Mitochondrial Disease Terms

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The table below contains frequently used terms related to Mitochondrial Disease.

Terms Definition
Acetyl CoA Acetyl CoA compound C25H38N7O17P3S formed as an intermediate in
metabolism and active as a coenzyme in biological acetylations.
Acute Acute is characterized by sharpness or severity of sudden onset acute
pain; having a sudden onset, sharp rise, and short course acute
illness; being, providing, or requiring short-term medical care (as
for serious illness or traumatic injury); lasting a short time.
Adaptive Equipment Adaptive equipment covers items that are specifically designed for
people with disabilities and would seldom be used by a non-disabled
Adenosine diphosphate (ADP) ADP is a nucleotide C10H15N5O10P2 composed of adenosine and two
phosphate groups that is formed in living cells as an intermediate
between ATP and AMP and that is reversibly converted to ATP for the
storing of energy by the addition of a high-energy phosphate group
Adenosine triphosphate (ATP) ATP is a phosphorylated nucleotide C10H16N5O13P3 composed of adenosine
and three phosphate groups that supplies energy for many biochemical
cellular processes by undergoing enzymatic hydrolysis especially to
Aerobic Metabolism Aerobic metabolism is a physiological process that requires oxygen to
be available in order to use carbohydrate, fat, or protein for energy
production. When oxygen is not available, only carbohydrate can be
used for energy, this is anaerobic metabolism.
Alanine Alanine is a simple nonessential crystalline amino acid C3H7NO2
Alopecia Alopecia is loss of hair, wool, or feathers; Doctors use “alopecia” to
refer to various forms of hair loss, including “alopecia areata,” a
sudden loss of hair in patches that involves little or no
Alper’s disease Alpers disease is a progressive neurologic disorder that begins during
childhood and is complicated in many instances by serious liver
disease. Symptoms include increased muscle tone with exaggerated
reflexes (spasticity), seizures, and loss of cognitive ability
Alpha lipoic acid (ALA) Alpha lipoic acid is any of several microbial growth factors
especially : a fatty acid C8H14O2S2 that is essential for the
oxidation of alpha-keto acids (such as pyruvic acid) in metabolism.
Amino acid proteins Amino acid proteins are an amphoteric organic acid containing the
amino group NH2 especially : any of the various amino acids having the
amino group in the alpha position that are the chief components of
proteins and are synthesized by living cells or are obtained as
essential components of the diet.
Aminoglycoside antibiotics Aminoglycoside antibiotics are any of a group of antibiotics (as
streptomycin and neomycin) that inhibit bacterial protein synthesis
and are active especially against gram-negative bacteria
Amnesia Amnesia is the loss of memory due usually to brain injury, shock,
fatigue, repression, or illness; a gap in one’s memory; the selective
overlooking or ignoring of events or acts that are not favorable or
useful to one’s purpose or position.
Anaerobic metabolism Anaerobic metabolism is the sum of the processes in the buildup and
destruction of protoplasm; specifically : the chemical changes in
living cells by which energy is provided for vital processes and
activities and new material is assimilated; : the sum of the processes
by which a particular substance is handled in the living body; the sum
of the metabolic activities taking place in a particular environment;
the metabolism when living, active, occurring, or existing in the
absence of free oxygen.
Anesthesia protocol Anesthesia Protocol is a statement that reports the uninterpreted
results of observations about anesthesia and provides the basis for
scientific confirmation about anesthesia; anesthesia is the loss of
sensation with or without loss of consciousness.
Anoxia Anoxia is hypoxia especially of such severity as to result in
permanent damage; the absence of dissolved oxygen in a body of water.
Antioxidants Antioxidants are substances (such as beta-carotene and vitamin C) that
inhibit oxidation or reactions promoted by oxygen, peroxides, or free
Antiretrovirals Antiretrovirals are a group of drugs that are affected against the
retroviral group of viruses which include: any of a family
(Retroviridae) of single-stranded RNA viruses that produce reverse
transcriptase by means of which DNA is produced using their RNA as a
template and incorporated into the genome of infected cells, that are
often tumorigenic, and that include the lentiviruses (such as the
HIVs) and the causative agent of Rous sarcoma.
Anxiety Anxiety is an abnormal and overwhelming sense of apprehension and fear
often marked by physical signs (such as tension, sweating, and
increased pulse rate), by doubt concerning the reality and nature of
the threat, and by self-doubt about one’s capacity to cope with it.
Apnea Apnea is a transient cessation of respiration.
Ataxia Ataxia is an inability to coordinate voluntary muscular movements that
is symptomatic of some central nervous system disorders and injuries
and not due to muscle weakness.
Atonic Seizure Atonic Seizures are the physical manifestations (such as convulsions,
sensory disturbances, or loss of consciousness) resulting from
abnormal electrical discharges in the brain (as in epilepsy).
Autism Autism is a variable developmental disorder that appears by age three
and is characterized especially by difficulties in forming and
maintaining social relationships, by impairment of the ability to
communicate verbally or nonverbally, and by repetitive behavior
patterns and restricted interests and activities.
Austism spectrum disorders (ASD) Autism Spectrum Disorders (ASD) is any of a group of developmental
disorders (such as autism and Asperger’s syndrome) marked by
impairments in the ability to communicate and interact socially and by
the presence of repetitive behaviors or restricted interests.
Autistic regression Regressive autism occurs when a child appears to develop typically but
then starts to lose speech and social skills, typically between the
ages of 15 and 30 months, and is subsequently diagnosed with
autism.[1] Other terms used to describe regression in children with
autism are autism with regression, autistic regression, setback-type
autism, and acquired autistic syndrome.[2] There is no standard
definition for regression,[2] and the prevalence of regression varies
depending on the definition used.[3] Some children show a mixture of
features, with some early delays and some later losses; and there is
evidence of a continuous spectrum of behaviors, rather than a
black-and-white distinction, between autism with and without
regression.[3] According to the definitions in the DSM-5 the term
“regressive autism” can refer to any type of autism spectrum disorder
that involves regression, including childhood disintegrative
Autonomic dysfunction Dysautonomia or autonomic dysfunction is a condition in which the
autonomic nervous system does not work properly. This may affect the
functioning of the heart, bladder, intestines, sweat glands, pupils,
and blood vessels. Dysautonomia has many causes, not all of which may
be classified as neuropathic. A number of conditions can feature
dysautonomia, such as Parkinson’s disease, HIV/AIDS, multiple system
atrophy, autonomic failure, postural orthostatic tachycardia syndrome,
Ehlers-Danlos syndrome.
autonomic nervous system Autonomic Nervous System is a part of the vertebrate nervous system
that innervates smooth and cardiac muscle and glandular tissues and
governs involuntary actions (such as secretion and peristalsis) and
that consists of the sympathetic nervous system and the
parasympathetic nervous system.
Autosomal dominant Autosomal dominant is one of many ways that a trait or disorder can be
passed down through families. In an autosomal dominant disease, if you
get the abnormal gene from only one parent, you can get the disease.
Often, one of the parents may also have the disease.
Autosomal recessive Autosomal Recessive is a genetic disorder that is passed down in
autosomal recessive fashion—in other words, you have to inherit an
abnormal gene from each parent for the trait to appear.
Baseline Baseline is a usually initial set of critical observations or data
used for comparison or a control.
Beckman oral motor techniques About Beckman Oral Motor Intervention “Oral motor” has been defined in
a variety of ways. Many of the strategies of the 1950’s and ’60’s were
primarily stimulation techniques, such as brushing (pressure massage),
icing (thermal stimulation), quick stretch (tapping), and vibration
(manual and mechanical).
Beta blockers Beta Blockers are any of a class of drugs (such as propranolol) that
decrease the rate and force of heart contractions and lower high blood
pressure by blocking the activity of beta-receptors.
Biochemical testing Biochemical Testing is the act of testing for chemical reactions in
living organisms such as a defect in the brain.
Biofeedback Biofeedback is the technique of making unconscious or involuntary
bodily processes (such as heartbeats or brain waves) perceptible to
the senses (as by the use of an oscilloscope) in order to manipulate
them by conscious mental control.
Biomedical ltreatments Biomedical Treatments are based on the application of the principles
of the natural sciences and especially biology and biochemistry.
Bipolar disorder Bipolar Disorder is any of several psychological disorders of mood
characterized usually by alternating episodes of depression and mania.
Blood lactate Blood lactate is a test that measures the amount of lactic acid (also
called “lactate”) in your blood. This acid is made in muscle cells and
red blood cells. It forms when your body turns food into energy. Your
body relies on this energy when its oxygen levels are low. Oxygen
levels might drop during an intense workout or when you have an
infection or disease.
Buccal swab test Buccal Swab Test is a test that involves swiping the lining of the
oral cavity/mouth.
Echocardiogram Echocardiogram is the use of ultrasound to examine the structure and
functioning of the heart for abnormalities and disease.
Cardiomyopathy Cardiomyopathy is any of several structural or functional diseases of
heart muscle marked especially by hypertrophy and obstructive damage
to the heart.
Carnitine Carnitine is a quaternary ammonium compound C7H15NO3 that is present
especially in vertebrate muscle, that in the levorotatory form is
involved in the transfer of fatty acids across mitochondrial
membranes, and in humans is obtained from food (such as meat or milk)
or is synthesized chiefly in the liver and kidneys from a lysine
Carnitine transport Carnitine Transport or better known as Cotransport is the coupled
transport of chemical substances across a cell membrane in which the
energy required to move a substance (such as glucose) against a
gradient in concentration or in electrical potential is provided by
the movement of another substance (such as a sodium ion) along its
gradient in concentration or in electric potential.
Casein Casein is one that is precipitated from milk by heating with an acid
or by the action of lactic acid in souring and is used in making
paints and adhesives; one that is produced when milk is curdled by
rennet, is the chief constituent of cheese, and is used in making
Catabolic state in metabolic diseases Metabolic disease, including mitochondrial disease, leads to a partial
or complete disruption of the body’s normal chemical processes.
Certain chemicals are not turned over; these compounds build up and
create cellular toxicity; certain chemicals are not made, which
creates a cellular deficiency. When individuals with metabolic disease
undergo a normal or abnormal catabolic stress, they begin turning over
protein, carbohydrate and fat stores as they should – but due to the
inherent chemical disruption, create more than normal levels of toxic
substances and less than normal levels of the required product. In the
case of mitochondrial disease, cells are less efficient at creating
adequate energy from protein, fat and carbohydrate stores. In the
catabolic state, the cell’s need for more cellular energy is often not
met. It is during these times when the individual with mitochondrial
disease is more vulnerable to cellular injury in various organs,
including the brain. Certain organs can rapidly decompensate and enter
a state of organ failure.
Cellular respiration Cellular respiration is the process through which cells convert fuel
into energy and nutrients. To create ATP and other forms of energy
that they can use to power their life functions, cells require both
fuel, and an electron acceptor which drives the chemical process of
turning energy from that fuel into a useable form.
Central nervous system Central nervous system definition is – the part of the nervous system
which in vertebrates consists of the brain and spinal cord, to which
sensory impulses are transmitted and from which motor impulses pass
out, and which coordinates the activity of the entire nervous system.
Cerebral palsy Cerebral Palsy is a disability resulting from damage to the brain
before, during, or shortly after birth and outwardly manifested by
muscular incoordination and speech disturbances.
Chelation therapy Chelation Therapy is a therapy for mercury or lead poisoning that
binds the toxins in the bloodstream by circulating a chelating
solution; a form of complementary therapy involving the intravenous
infusion of substances intended to remove calcium from hardened
Chromosome Chromosome is a threadlike structure of nucleic acids and protein
found in the nucleus of most living cells, carrying genetic
information in the form of genes.
Chronic progressive external opthalmoplegia (CPEO) Chronic progressive external ophthalmoplegia (CPEO), also known as
progressive external ophthalmoplegia (PEO), is a type of eye disorder
characterized by slowly progressive inability to move the eyes and
Clinical presenetation Clinical Presentation are typical physical signs or symptoms that are
associated with a particular disease process. The proper
interpretation of the clinical presentation often leads to a specific
Coenzyme Q10 Coenzyme Q10 is a ubiquinone C59H90O4 of humans and most other mammals
that has a side chain with ten isoprenoid units and possesses
antioxidant properties. The many claims made by proponents of coenzyme
Q10 … that it can help treat heart failure, cancer and diabetes,
improve sperm quality and even help you live longer—stem from the fact
that the compound plays a crucial role in almost every cell in the
body. As a rule, coenzymes help enzymes do their job: in this case,
the enzymes that produce energy in our cells.
Cognition Cognition is the conscious intellectual activity (such as thinking,
reasoning, or remembering); based on or capable of being reduced to
empirical factual knowledge
Cognitive behavioral therapy (CBT) Cognitive Behavioral Therapy (CBT) is psychotherapy that combines
cognitive therapy with behavior therapy by identifying faulty or
maladaptive patterns of thinking, emotional response, or behavior and
substituting them with desirable patterns of thinking, emotional
response, or behavior; (Note: Cognitive behavioral therapy is used in
the treatment of various mental and emotional disorders including
depression, anxiety, anorexia, and substance abuse. Cognitive therapy
and cognitive behavioral therapy are often used interchangeably.)
Cognitive degeneration Some of the possible signs and symptoms of Cognitive Degeneration may
include: Difficulty thinking (cognitive impairment) Impulsive
behavior. Depression or apathy. Short-term memory loss. Difficulty
planning and carrying out tasks (executive function) Emotional
Cognitive delay A cognitive delay refers to problems with thinking and can sometimes
be referred to as an intellectual disability. If your little one has a
cognitive developmental delay then it may be due to a learning
disability (like ADHD), lead poisoning, a genetic disorder, or autism
spectrum disorder (ASD).
Colitis Colitis refers to inflammation of the inner lining of the colon. There
are numerous causes of colitis including infection, inflammatory bowel
disease (Crohn’s disease and ulcerative colitis are two types of IBD),
ischemic colitis, allergic reactions, and microscopic colitis.
Symptoms of colitis depend upon the cause and may include. abdominal
Common metabolic catabolic stressors in mitochondrial diseases There are several catabolic stressors to the body, including prolonged
fasting, illness, surgery and anesthesia. Of these, one that is faced
commonly in the pediatric and adult population is illness. Viral
illnesses are frequent occurrences in the growing child. And there is
currently no clear way to prevent a child or adult from acquiring
viral infections, though hand-washing and limiting exposures to sick
contacts/contagious persons have benefits. The patient with
mitochondrial disease is not more prone to life-threatening
infections. There is some anecdotal (experience-based) and small
study-based evidence that mitochondrial patients have more frequent
non-life-threatening viral infections such as colds, stomach-flues,
bronchitis, and ear infections. This vulnerability may be due to some,
yet unquantifiable, dysfunction of the immune system – though, to
date, all routine measures of immune function in mitochondrial
patients are normal. There is no specific treatment for mitochondrial
patients despite the potentially increased frequency of
non-life-threatening infections.
Complex I Complex I (EC (also referred to as NADH:ubiquinone
oxidoreductase or, especially in the context of the human protein,
NADH dehydrogenase (ubiquinone)) is an enzyme of the respiratory
chains of myriad organisms from bacteria to humans. It catalyzes the
transfer of electrons from NADH to coenzyme Q10 (CoQ10) and, in
eukaryotes, it is located in the inner mitochondrial membrane.
Complex II Like all components of the ETC, complex II (CII) is an enzyme; namely
succinate dehydrogenase. As illustrated above, the primary substrate
of CII is succinate (sometimes known as succinic acid).
Complex III Complex III is a multisubunit transmembrane protein encoded by both
the mitochondrial (cytochrome b) and the nuclear genomes (all other
subunits). Complex III is present in the mitochondria of all animals
and all aerobic eukaryotes and the inner membranes of most eubacteria.
Complex IV The enzyme cytochrome c oxidase or Complex IV, EC is a large
transmembrane protein complex found in bacteria, archaea, and in
eukaryotes in their mitochondria. It is the last enzyme in the
respiratory electron transport chain of cells located in the membrane.
Cytochrome c oxidase, Complex IV The enzyme cytochrome c oxidase or Complex IV, EC is a large
transmembrane protein complex found in bacteria, archaea, and in
eukaryotes[1] in their mitochondria. It is the last enzyme in the
respiratory electron transport chain of cells located in the membrane.
It receives an electron from each of four cytochrome c molecules, and
transfers them to one dioxygen molecule, converting the molecular
oxygen to two molecules of water. In this process it binds four
protons from the inner aqueous phase to make two water molecules, and
translocates another four protons across the membrane, increasing the
transmembrane difference of proton electrochemical potential which the
ATP synthase then uses to synthesize ATP.
Creatinine Creatinine is a waste product formed by the normal breakdown of muscle
cells. Healthy kidneys take creatinine out of the blood and put it
into the urine to leave the body. When the kidneys are not working
well, creatinine builds up in the blood.
Cristae Cristae are sub-compartments of the inner membrane of mitochondria and
are essential to mitochondrial function.Mitochondria are often
considered the powerhouses of the cell since they are the organelles
responsible for the generation of ATP, the energy currency of the
Cyclical vomiting syndrome (CVS) Cyclic vomiting syndrome is a disorder that causes recurrent episodes
of nausea, vomiting, and tiredness (lethargy). This condition is
diagnosed most often in young children, but it can affect people of
any age. The episodes of nausea, vomiting, and lethargy last anywhere
from an hour to 10 days.
Cytochrome A cytochrome is any of a number of compounds consisting of heme bonded
to a protein. Cytochromes function as electron transfer agents in many
metabolic pathways, especially cellular respiration.
Cytopathy Cytopathy is any disorder of a cell or anomaly of any of its
constituents. [cyto- + G. pathos, disease]
D5 Dextrose/electrolyte therapy should be considered if a patient is
unable to maintain oral fluid intake in the face of a catabolic
stressor, including fever, illness or vomiting.
Dehydration Dehydration is excessive loss of body water.
Dementia Dementia is a significant loss of intellectual abilities, such as
memory capacity, that is severe enough to interfere with social or
occupational functioning.
DNA DNA is a nucleic acid that carries the genetic information in cells
and some viruses, consisting of two long chains of nucleotides twisted
into a double helix and joined by hydrogen bonds between the
complementary bases adenine and thymine or cytosine and guanine
Developmental delay Developmental delay is a condition in which a child is behind schedule
in reaching milestones of early childhood development.
Dominant Inheritance Dominant Inheritance is a pattern of inheritance in which an affected
individual has one copy of a mutant gene and one normal gene on a pair
of autosomal chromosomes.
Down Syndrome Down Syndrome is a common birth defect that is usually due to an extra
chromosome 21 (trisomy 21). Down syndrome causes mental retardation, a
characteristic facial appearance, and multiple malformations. It
occurs most frequently in children born to mothers over age 35. It is
associated with a major risk for heart problems, a lesser risk of
duodenal atresia (partially undeveloped intestines), and a minor but
significant risk of acute leukemia.
Dysautonomia Dysautonomia is a disorder of the autonomic nervous system that causes
disturbances in all or some autonomic functions and may result from
the course of a disease (as diabetes) or from injury or poisoning
Dysmotility Dysmotility is a term used to describe a health problem in which the
muscles of the digestive system do not work as they should. This can
result in a change in the speed, strength or coordination of the
muscles of the esophagus, stomach, small intestine and/or the large
Dysphasia Dysphasia is difficulty in swallowing.
Dyspnea Dyspnea is difficult or labored respiration.
Dyspraxia Dyspraxia is the impairment of the ability to perform coordinated
Early intervention Early Intervention is acting early with the outcome or course
especially of a condition or process (as to prevent harm or improve
Echocardiogram Echocardiogram is using ultrasound to examine the structure and
functioning of the heart for abnormalities and disease.
Electrolytes Electrolytes are a substance that when dissolved in a suitable solvent
or when fused becomes an ionic conductor; any of the ions (as of
sodium or calcium) that in biological fluid regulate or affect most
metabolic processes (such as the flow of nutrients into and waste
products out of cells).
Electron An electron is an elementary particle consisting of a charge of
negative electricity equal to about 1.602 × 10−19 coulomb and having a
mass when at rest of about 9.109 × 10−31 kilogram or about ¹/₁₈₃₆ that
of a proton.
Electron transport chain An Electron Transport Chain is the sequential transfer of electrons
especially by cytochromes in cellular respiration from an oxidizable
substrate to molecular oxygen by a series of oxidation-reduction
Encephalopathy Encelphalopathy is a disease of the brain.
Energetics Energetics is a branch of mechanics that deals primarily with energy
and its transformations; the total energy relations and
transformations of a physical, chemical, or biological system.
Enteral nutrition Enteral Nutrition is nutrition by tube wheras the patient receives
nutrition by having a coating designed to pass through the stomach
unaltered and disintegrate in the intestines.
Enteric nervous system (ENS) The enteric nervous system or intrinsic nervous system is one of the
main divisions of the autonomic nervous system and consists of a
mesh-like system of neurons that governs the function of the
gastrointestinal system. It is derived from neural crest.
Enzymes Enzymes are any of numerous complex proteins that are produced by
living cells and catalyze specific biochemical reactions at body
Enzymology Enzymology is a branch of biochemistry that deals with the properties,
activity, and significance of enzymes.
Epidemiology Epidemiology is a branch of medical science that deals with the
incidence, distribution, and control of disease in a population; the
sum of the factors controlling the presence or absence of a disease or
Epilepsy Epilepsy are any of various disorders marked by abnormal electrical
discharges in the brain and typically manifested by sudden brief
episodes of altered or diminished consciousness, involuntary
movements, or convulsions.
Erytthromycin Erythromycin is a broad-spectrum antibiotic C37H67NO13 produced by an
actinomycete (Saccharopolyspora erythraea synonym Streptomyces
erythraeus) and administered orally or topically.
Exercise Function Test Exercise Testing is a technique for evaluating circulatory response to
physical stress; it involves continuous electrocardiographic
monitoring during physical exercise, the objective being to increase
the intensity of physical exertion until a target heart rate is
reached or signs and symptoms of cardiac ischemia appear.
Exercise intolerance Exercise intolerance, which is defined as the reduced ability to
perform activities involving dynamic movement because of symptoms of
dyspnea or fatigue, is the most common clinical symptom among patients
with heart failure.
Failure to thrive Failure to thrive refers to children whose current weight or rate of
weight gain is much lower than that of other children of similar age
and gender. Causes Failure to thrive may be caused by medical problems
or factors in the child’s environment, such as abuse or neglect.
Fatty acid A fatty acid is a carboxylic acid with a long aliphatic chain, which
is either saturated or unsaturated. Most naturally occurring fatty
acids have an unbranched chain of an even number of carbon atoms, from
4 to 28. Fatty acids are usually not found in organisms, but instead
as three main classes of esters: triglycerides, phospholipids, and
cholesterol esters. In any of these forms, fatty acids are both
important dietary sources of fuel for animals and they are important
structural components for cells.
Fatty acid oxidation disorder When your body runs out of sugar, it usually breaks down fat for
energy. A baby with fatty disorder can’t change fat into energy.
Fatty acid oxidation defect Fatty acid oxidation defects: Fatty acid oxidation defects are
deficiencies in the body’s ability to break down fatty acids to make
energy due to a defective or missing enzyme.
Febrile Febrile is having or showing the symptoms of a fever: feverish ·
fevered · hot · burning · burning up · fiery · flushed · sweating · in
a cold sweat · shivering · delirious · with a temperature · pyretic.
Fibroblasts Fibroplasts are cells that generates the protein COLLAGEN, a major
component of connective tissue and the main structural material of the
body. Fibroblasts are important in wound healing. They can readily be
cultured artificially. Fibroblasts have a branched cytoplasm
surrounding an elliptical, speckled nucleus having two or more
nucleoli . Active fibroblasts can be recognized by their abundant
rough endoplasmic reticulum . Inactive fibroblasts (called fibrocytes)
are smaller, spindle-shaped, and have a reduced amount of rough
endoplasmic reticulum.
Fine motor skills Fine Motor Skills is the use of precise coordinated movements in such
activities as writing, buttoning, cutting, tracing, or visual
Flavine adenine dinucleotide Flavine Adenine Dinucleotide is a coenzyme that transfers hydrogen
from one substrate to another. It is derived from the B vitamine
Fragile X syndrome Fragile X syndrome is the most common form of inherited mental
retardation. Individuals with this condition have developmental delay,
variable levels of mental retardation, and behavioral and emotional
difficulties. They may also have characteristic physical traits.
Generally, males are affected with moderate mental retardation and
females with mild mental retardation.
Free radical Free radicals are formed naturally as products of metabolic processes
and can also be introduced from outside the body through smoking,
inhaling environmental pollutants, or exposure to ultraviolet
radiation. They interact readily with nearby molecules and may cause
cellular damage, including genetic alterations. It has been theorized
that they are involved in degenerative disorders such as Alzheimer
dementia and parkinsonism, in plaque formation in atherosclerosis, and
in cancer. Natural enzymes such as superoxide dismutase and peroxidase
are thought to counteract free radicals, and there is evidence that
many nutrients, including vitamins C and E and beta-carotene, also
exert an antioxidant effect.
Gastric dismotility Gastric Dysmotility occurs when the intestinal tract loses its ability
to coordinate the muscular contractions of the bowel. With intestinal
dysmotility, certain muscles, including the esophagus, stomach, small
and large intestines fail to work normally when moving food, drink and
medication through the gastrointestinal tract.
Gastrointestinal (GI) Gastrointestinal is the stomach, small intestine, and large intestine;
often used as a synonym of digestive tract.
Gastrostomy Tube (G Tube) Gastrostomy Tube is a tube placed directly into the stomach for
long-term enteral feeding or gastric decompression. This may be done
laparoscopically, surgically, or by percutaneous endoscopic
gastrostomy tube technique.
Gastroparesis Gastroparesis is a disorder characterized by delayed movement of food
from the stomach into the small intestine because of impaired stomach
motility, resulting in nausea, vomiting, and a feeling of fullness.
Gene Gene is one of the biologic units of heredity, self-reproducing, and
located at a definite position (locus) on a particular chromosome.
Genes make up segments of the complex deoxyribonucleic acid (DNA)
molecule that controls cellular reproduction and function. There are
thousands of genes in the chromosomes of each cell nucleus; they play
an important role in heredity because they control the individual
physical, biochemical, and physiologic traits inherited by offspring
from their parents. Through the genetic code of DNA they also control
the day-to-day functions and reproduction of all cells in the body.
For example, the genes control the synthesis of structural proteins
and also the enzymes that regulate various chemical reactions that
take place in a cell. The gene is capable of replication. When a cell
multiplies by mitosis each daughter cell carries a set of genes that
is an exact replica of that of the parent cell. This characteristic of
replication explains how genes can carry hereditary traits through
successive generations without change.
Genetic Genetic – pertaining to reproduction, birth, or origin; pertaining to
genetics or heredity; pertaining to or produced by a gene; inherited.
Genetic Counseling Genetic counseling aims to facilitate the exchange of information
regarding a person’s genetic legacy. It attempts to: accurately
diagnose a disorder; assess the risk of recurrence in the concerned
family members and their relatives; provide alternatives for
decision-making; provide support groups that will help family members
cope with the recurrence of a disorder.
Genetic disease A genetic disease is any disease caused by an abnormality in the
genetic makeup of an individual. The genetic abnormality can range
from minuscule to major — from a discrete mutation in a single base
in the DNA of a single gene to a gross chromosomal abnormality
involving the addition or subtraction of an entire chromosome or set
of chromosomes.
Genome Genome is the complete set of genes or genetic material present in a
cell or organism.
Genome sequencing Genome sequencing is figuring out the order of DNA nucleotides, or
bases, in a genome—the order of As, Cs, Gs, and Ts that make up an
organism’s DNA. The human genome is made up of over 3 billion of these
genetic letters. Genome sequencing is often compared to “decoding,”
but a sequence is still very much in code. In a sense, a genome
sequence is simply a very long string of letters in a mysterious
language. When you read a sentence, the meaning is not just in the
sequence of the letters. It is also in the words those letters make
and in the grammar of the language. Similarly, the human genome is
more than just its sequence. Imagine the genome as a book written
without capitalization or punctuation, without breaks between words,
sentences, or paragraphs, and with strings of nonsense letters
scattered between and even within sentences.
Gastroesophageal reflux disease (GERD) Gastroesophageal Reflux Disease is a condition in which acidic gastric
fluid flows backward into the esophagus, resulting in heartburn.
Global delay A global developmental delay is when kids have delays in at least two
areas. Many parents and caregivers worry that their child’s delays are
somehow their fault. But developmental delays are typically caused by
things beyond your control. For example, teaching a child more than
one language doesn’t lead to speech or language problems.
Glucophage Glucophage is an oral diabetes medicine that helps control blood sugar
levels.Glucophage is used together with diet and exercise to improve
blood sugar control in adults with type 2 diabetes mellitus.
Glucose Glucose is a simple sugar with the molecular formula C₆H₁₂O₆. Glucose
is the most abundant monosaccharide, a subcategory of carbohydrates.
Glucose is mainly made by plants and most algae during photosynthesis
from water and carbon dioxide, using energy from sunlight. There it is
used to make cellulose in cell walls, which is the most abundant
carbohydrate. In energy metabolism, glucose is the most important
source of energy in all organisms. Glucose for metabolism is partially
stored as a polymer, in plants mainly as starch and amylopectin and in
animals as glycogen. Glucose circulates in the blood of animals as
blood sugar.
Glutathione metabolism Glutathione is an antioxidant in plants, animals, fungi, and some
bacteria and archaea. Glutathione is capable of preventing damage to
important cellular components caused by reactive oxygen species such
as free radicals, peroxides, lipid peroxides, and heavy metals. It is
a tripeptide with a gamma peptide linkage between the carboxyl group
of the glutamate side chain and cysteine. The carboxyl group of the
cysteine residue is attached by normal peptide linkage to glycine.
Gluten Gluten is a group of proteins, called prolamins and glutelins, which
occur with starch in the endosperm of various cereal grains. This
protein complex comprises 75–85% of the total protein in bread wheat.
It is found in related wheat species and hybrids, barley, rye, and
oats, as well as products derived from these grains, such as breads
and malts.
Glycolysis Glycolysis (from glycose, an older term for glucose + -lysis
degradation) is the metabolic pathway that converts glucose C6H12O6,
into pyruvate, CH3COCOO + H. The free energy released in this process
is used to form the high-energy compounds ATP (adenosine triphosphate)
and NADH (reduced nicotinamide adenine dinucleotide).
Gross motor skills Gross motor skills are movements that involve large muscle groups and
are generally more broad and energetic than fine motor movements.
These include walking, kicking, jumping, and climbing stairs. Some
milestones for gross motor skills also involve eye-hand coordination,
such as throwing or catching a ball.
Heat intolerance Heat Intolerance is an uncomfortable feeling of being overheated in
hot environments.
Hemophilia Hemophilia is caused by deficiency of clotting factors, a certain type
of protein in the body. Major symptoms include unexplained bleeding,
blood in urine or stool. Treatment involves injections of the
insufficient clotting factors or plasma.
Heteroplasmy Heteroplasmy is the presence of more than one type of organellar
genome (mitochondrial DNA or plastid DNA) within a cell or individual.
It is an important factor in considering the severity of mitochondrial
Histological testing Histological testing is the study of the microscopic anatomy of cells
and tissues of plants and animals. It is commonly performed by
examining cells and tissues under a light microscope or electron
microscope, which have been sectioned, stained and mounted on a
microscope slide.
Homepathic medicine Homeopathic medicine is a science that stimulates the individual’s
body to correct imbalances, eliminate waste and maintain equilibrium
in the body by means of preparations which facilitate the process of
self-cure and enable the body to heal itself by following the Laws of
Homeostatis Homeostasis is the tendency toward a relatively stable equilibrium
between interdependent elements, especially as maintained by
physiological processes.
Hospice Hospice is a home providing care for the sick or terminally ill.
Hydration Hydration is: Chemically, the addition of water; differentiated from
hydrolysis, where the union with water is accompanied by a splitting
of the original molecule and the water molecule; Clinically, the
taking in of water; used commonly in the sense of reduced hydration or
dehydration; the formation of a shell of water molecules around a
molecular entity.
Hypoglycemia Hypoglycemia is literally translated as low blood sugar. Hypoglycemia
occurs when blood sugar (or blood glucose) concentrations fall below a
level necessary to properly support the body’s need for energy and
stability throughout its cells.
Hypotonia Hypotonia is reduced tension in any part, as in the eyeball;
Relaxation of the arteries; A condition in which there is a diminution
or loss of muscular tonicity.
Hypoxia Hypoxia is diminished availability of oxygen to the body tissues; its
causes are many and varied and includes a deficiency of oxygen in the
atmosphere, as in altitude sickness; pulmonary disorders that
interfere with adequate ventilation of the lungs; anemia or
circulatory deficiencies, leading to inadequate transport and delivery
of oxygen to the tissues; and finally, edema or other abnormal
conditions of the tissues themselves that impair the exchange of
oxygen and carbon dioxide between capillaries and tissues.
Individuals with Disailities Act The Individuals with Disabilities Education Act is a four-part piece
of American legislation that ensures students with a disability are
provided with Free Appropriate Public Education that is tailored to
their individual needs. IDEA was previously known as the Education for
All Handicapped Children Act from 1975 to 1990. In 1990, the United
States Congress reauthorized EHA and changed the title to IDEA.
Overall, the goal of IDEA is to provide children with disabilities the
same opportunity for education as those students who do not have a
Idiopathic An idiopathic disease is any disease with an unknown cause or
mechanism of apparent spontaneous origin. From Greek ἴδιος idios
“one’s own” and πάθος pathos “suffering”, idiopathy means
approximately “a disease of its own kind”. For some medical
conditions, one or more causes are somewhat understood, but in a
certain percentage of people with the condition, the cause may not be
readily apparent or characterized. In these cases, the origin of the
condition is said to be idiopathic. With some other medical
conditions, the root cause for a large percentage of all cases have
not been established—for example, focal segmental glomerulosclerosis
or ankylosing spondylitis; the majority of these cases are deemed
Individual Family Service Place (IFSP) An Individual Family Service Plan (IFSP) is a plan for special
services for young children with developmental delays. An IFSP only
applies to children from birth to three years of age. The IFSP is
developed with service coordinator for a Part C eligible child and
family. The service is available “Part C” (formerly Part H) of the
Individuals with Disabilities Education Act (IDEA) The IFSP is set up
to identify individualized supports and services that will enhance the
child’s development. The IFSP is usually done at 6 month intervals but
can be done more often if necessary. The plan must include an
assessment of child’s present level of development, a statement of
goals, support services that will be put in place to achieve those
goals, date services will begin, name and identification of the
service coordinator.
Individualized Education Program (IEP) Once a child turns 3 years old, an Individualized Education Program
(IEP) is put into place. This program was created by US Public Law
99-457.1 An IEP strictly revolves around the student, because it’s the
child’s education which is being discussed.
Insensible Fluid Loss Insensible loss (insensible water loss) is the amount of fluid lost on
a daily basis from the lungs, skin, and respiratory tract, as well as
water excreted in the feces; the exact amount cannot be measured, but
it is estimated to be between 40 cc and 600 cc in an adult under
normal circumstances.
Intellectual Disability Intellectual disability is a disability characterized by significant
limitations in both intellectual functioning and in adaptive behavior,
which covers many everyday social and practical skills.
Ischemia Ischemia is an inadequate blood supply to an organ or part of the
body, especially the heart muscles.
Jejunostomy Tube (J tube) A jejunostomy tube is a feeding tube inserted in the jejunum, the
second section of the small intestine. In many cases, a jejunostomy
tube will help to provide nutrition for a terminally ill patient.
Jejunum The jejunum is the second part of the small intestine in humans and
most higher vertebrates, including mammals, reptiles, and birds. Its
lining is specialized for the absorption by enterocytes of small
nutrient molecules which have been previously digested by enzymes in
the duodenum. The jejunum lies between the duodenum and the ileum and
is considered to start at the suspensory muscle of the duodenum, a
location called the duodenojejunal flexure. The division between the
jejunum and ileum is not anatomically distinct. In adult humans, the
small intestine is usually 6-7m long, about two-fifths of which (2.5
m) is the jejunum.
Kearns Sayre Syndrome The Kearns-Sayre syndrome is one of the mitochondrial
encephalomyopathies. These disorders are due to defects in the DNA of
the mitochondria, the cell structures that produce energy. These
defects cause the brain and muscles to function abnormally
Ketogenic diet Ketogenic diet is an extreme low-carbohydrate diet that aims to
promote the metabolism of fats into ketone bodies (rather than
carbohydrates into glucose) to provide the body’s main source of
Kidney dysfunction Kidney Dysfunction is disturbance, impairment, or abnormality of
kidney functioning.
Kreb’s Cycle Kreb’s cycle (also known as Citric Acid Cycle or Tricarboxylic Acid
Cycle) is a step wise cyclic process which is used to oxidize the
pyruvate formed during the glycolytic breakdown of glucose into Carbon
Dioxide (CO 2) and Water (H 2 O). It also oxidizes acetyl CoA which
arises from breakdown of carbohydrate, lipid, and protein
Lactated ringer’s (LR) Lactated Ringer’s solution, also known as sodium lactate solution and
Hartmann’s solution, is a mixture of sodium chloride, sodium lactate,
potassium chloride, and calcium chloride in water. It is used for
replacing fluids and electrolytes in those who have low blood volume
or low blood pressure. It may also be used to treat metabolic acidosis
and to wash the eye following a chemical burn. It is given by
injection into a vein or applied to the affected area.
Lactic acid Lactic acid is an organic acid. It has a molecular formula
CH₃CH(OH)CO₂H. It is white in solid state and it is miscible with
water. While in liquid state it is a colorless solution. Production
includes both artificial synthesis as well as natural sources. Lactic
acid is an alpha-hydroxy acid due to the presence of carboxyl group
adjacent to the hydroxyl group. It is used as a synthetic intermediate
in many organic synthesis industries and in various biochemical
industries. The conjugate base of lactic acid is called lactate.
Lactic acidosis Lactic acidosis is a medical condition characterized by the buildup of
lactate in the body, with formation of an excessively low pH in the
bloodstream. It is a form of metabolic acidosis, in which excessive
acid accumulates due to a problem with the body’s oxidative
Leber’s Hereditary optic neuropathy (LHON) Leber’s hereditary optic neuropathy (LHON) or Leber hereditary optic
atrophy is a mitochondrially inherited (transmitted from mother to
offspring) degeneration of retinal ganglion cells (RGCs) and their
axons that leads to an acute or subacute loss of central vision; this
affects predominantly young adult males.
Leigh’s disease Leigh’s syndrome (also called Leigh disease and subacute necrotizing
encephalomyelopathy) is an under-recognized inherited neurometabolic
disorder that affects the central nervous system. It is named after
Archibald Denis Leigh, a British neuropsychiatrist who first described
the condition in 1951.[2] Normal levels of thiamine, thiamine
monophosphate, and thiamine diphosphate are commonly found but there
is a reduced or absent level of thiamine triphosphate. This is thought
to be caused by a blockage in the enzyme thiamine-diphosphate kinase,
and therefore treatment in some patients would be to take thiamine
triphosphate daily.
Lethargy Lethargy is a state of tiredness, weariness, fatigue, or lack of
energy. It can be accompanied by depression, decreased motivation, or
apathy. Lethargy can be a normal response to inadequate sleep,
overexertion, overworking, stress, lack of exercise, improper
nutrition, boredom, or a symptom of an illness or a disorder. It may
also be a side-effect of medication or caused by an interaction
between medications or medication(s) and alcohol. When part of a
normal response, lethargy often resolves with rest, adequate sleep,
decreased stress, physical exercise and good nutrition.[1][2]
Lethargy’s symptoms can last days or even months.
Leukodystrophy Leukodystrophy is one of a group of disorders characterized by
degeneration of the white matter in the brain.[1] The word
leukodystrophy comes from the Greek roots leuko, “”white””, dys,
“”abnormal””, and troph, “”growth””. The leukodystrophies are caused
by imperfect growth or development of the myelin sheath, the fatty
insulating covering around nerve fibers.[2] When damage occurs to
white matter, immune responses can lead to inflammation in the central
nervous system (CNS), along with loss of myelin. The degeneration of
white matter can be seen in an MRI scan and used to diagnose
leukodystrophy. Leukodystrophy is characterized by specific symptoms
including decreased motor function, muscle rigidity, and eventual
degeneration of sight and hearing. While the disease is fatal, the age
of onset is a key factor as infants are given a lifespan of 2–8 years
(sometimes longer), while adults typically live more than a decade
after onset. Treatment options are limited, although hematopoietic
stem cell transplantations using bone marrow or cord blood seem to
help in certain types while further research is being done.
Magnetic resonance imaging (MRI) Magnetic resonance imaging (MRI) is a medical imaging technique used
in radiology to form pictures of the anatomy and the physiological
processes of the body. MRI scanners use strong magnetic fields,
magnetic field gradients, and radio waves to generate images of the
organs in the body. MRI does not involve X-rays or the use of ionizing
radiation, which distinguishes it from CT or CAT scans and PET scans.
Magnetic resonance imaging is a medical application of nuclear
magnetic resonance (NMR). NMR can also be used for imaging in other
NMR applications such as NMR spectroscopy.
Magnetic resonance spectroscopy (MRS) Magnetic Resonance Spectroscopy (MRS) is a noninvasive technique that
is similar to magnetic resonance imaging but uses a stronger field and
is used to monitor body chemistry (as in metabolism or blood flow)
rather than anatomical structures —abbreviation MRS.
Malabsorption Malabsorption is faulty absorption especially of nutrient materials
from the gastrointestinal tract.
Malaise Malaise is an indefinite feeling of debility or lack of health often
indicative of or accompanying the onset of an illness.
Malignant hyperthermia (MH) Malignant hyperthermia is a rare inherited condition characterized by
a rapid, extreme, and often fatal rise in body temperature following
the administration of general anesthesia.
Malnutrition Malnutrition definition is – faulty nutrition due to inadequate or
unbalanced intake of nutrients or their impaired assimilation or
Maternal mitochondrial DNA mutation inhertiance (mtDNA) Mitochondrial DNA is never mixed with the father’s DNA, so the red
circle pedigree line above remains unbroken and intact and is passed
from mothers to all of their children, as you can see in the brother
and sister at the bottom. Only females pass mitochondrial DNA on to
their children, so all children carry their mother’s mtDNA thus why
the term Maternal Mitochondrial DNA mutation inheritance (mtDNA)/.
Matrix Matrix is something within or from which something else originates,
develops, or takes form.
Meditation Meditation is a discourse intended to express its author’s reflections
or to guide others in contemplation.
Mitochondrial encephalopathy lactic acidosis and stroke (MELAS) Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like
episodes (MELAS) is a condition that affects many of the body’s
systems, particularly the brain and nervous system (encephalo-) and
muscles (myopathy). The signs and symptoms of this disorder most often
appear in childhood following a period of normal development, although
they can begin at any age.
Melatonin Melatonin is a vertebrate hormone that is derived from serotonin, is
secreted by the pineal gland especially in response to darkness, and
has been linked to the regulation of circadian rhythms
Mendelian inheritance Mendelian inheritance of characters specifically transmitted by genes
in accord with Mendel’s laws — called also particulate inheritance.
Meningitis Meningitis is inflammation of the meninges and especially of the pia
mater and arachnoid specifically : a disease marked by inflammation of
the meninges that is either a relatively mild illness caused by a
virus (such as various Coxsackieviruses) or a more severe usually
life-threatening illness caused by a bacterium (especially the
meningococcus, Neisseria meningitides, or the serotype designated B of
Haemophilus influenzae). Note: Meningitis is often marked by fever,
headache, vomiting, malaise, and stiff neck, and if left untreated in
bacterial forms, may progress to confusion, stupor, convulsions, coma,
and death.
Myoclonic epilepsy and ragged red fiber disease (MERRF) MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a
mitochondrial disease. It is extremely rare, and has varying degrees
of expressivity owing to heteroplasmy. MERRF syndrome affects
different parts of the body, particularly the muscles and nervous
Metabolic crisis Metabolic crisis is a serious health condition caused by low blood
sugar and the build-up of toxic substances in the blood. Symptoms of a
metabolic crisis are poor appetite, nausea, vomiting, diarrhea,
extreme sleepiness, irritable mood and behavior changes.
Metabolic disease Metabolic disease is a disease caused by some defect in the chemical
reactions of the cells of the body.
Metaboic Syndrome Metabolic syndrome is a combination including at least three of the
following: abdominal obesity, hypertriglyceridemia, low level of
high-density lipoproteins, hypertension, and high fasting plasma
glucose level. It is associated with an increased risk for development
of diabetes mellitus and cardiovascular disease.
Metabolism Metabolism is the sum of the processes in the buildup and destruction
of protoplasm; specifically: the chemical changes in living cells by
which energy is provided for vital processes and activities and new
material is assimilated. Regular exercise can help to increase your
Metformin Metformin, marketed under the trade name Glucophage among others, is
the first-line medication for the treatment of type 2 diabetes,
particularly in people who are overweight. It is also used in the
treatment of polycystic ovary syndrome.
Glucophage Glucophage, also known as metformin, is an oral diabetes medicine that
helps control blood sugar levels. Glucophage is used together with
diet and exercise to improve blood sugar control in adults with type 2
diabetes mellitus . Glucophage is sometimes used together with insulin
or other medications, but it is not for treating type 1 diabetes.
Migrane Migraine is a condition marked by recurring moderate to severe
headache with throbbing pain that usually lasts from four hours to
three days, typically begins on one side of the head but may spread to
both sides, is often accompanied by nausea, vomiting, and sensitivity
to light or sound, and is sometimes preceded by an aura and is often
followed by fatigue.
Mitochondrial recessive ataxia syndrome (MIRAS) Ataxia neuropathy spectrum now includes the conditions previously
called mitochondrial recessive ataxia syndrome (MIRAS) and sensory
ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). As the name
implies, people with ataxia neuropathy spectrum typically have
problems with coordination and balance (ataxia) and disturbances in
nerve function (neuropathy).
Mito cocktail The mito cocktail refers to the group of vitamins and supplements used
by patients with mitochondrial disease to help the body improve energy
production at the cellular level.
Mitochondria Definition of mitochondrion ( plural mitochondria) : any of various
round or long cellular organelles of most eukaryotes that are found
outside the nucleus, produce energy for the cell through cellular
respiration, and are rich in fats, proteins, and enzymes.
Mitochondrial diseases Mitochondrial diseases are a group of disorders caused by
dysfunctional mitochondria, the organelles that generate energy for
the cell. Mitochondria are found in every cell of the human body
except red blood cells, and convert the energy of food molecules into
the ATP that powers most cell functions.
Mitochondiral neurogastrointestinal encephalopathy (MNGIE) Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is
a rare autosomal recessive mitochondrial disease. It has been
previously referred to as polyneuropathy, ophthalmoplegia,
leukoencephalopathy, and POLIP syndrome. The disease presents in
childhood, but often goes unnoticed for decades.
Mitochondrial oxidative stress Mitochondrial oxidative stress is characterized by the overproduction
of reactive oxygen species, which can induce mitochondrial DNA
mutations, damage the mitochondrial respiratory chain, alter membrane
permeability, and influence Ca2+ homeostasis and mitochondrial defense
Molecular diagnosis Molecular diagnosis is a technique used to analyse biological markers
in the genome and proteome—the individual’s genetic code and how their
cells express their genes as proteins—by applying molecular biology to
medical testing. The technique is used to diagnose and monitor
disease, detect risk, and decide which therapies will work best for
individual patients.
Genetic diagnosis Preimplantation genetic diagnosis (PGD) is a procedure used prior to
implantation to help identify genetic defects within embryos. This
serves to prevent certain genetic diseases or disorders from being
passed on to the child. The embryos used in PGD are usually created
during the process of  in vitro fertilization  (IVF).
Moelcular DNA sequencing DNA sequencing is the process of determining the nucleic acid sequence
– the order of nucleotides in DNA. It includes any method or
technology that is used to determine the order of the four bases:
adenine, guanine, cytosine, and thymine.
Molecular testing Molecular testing (also called biomarker testing) looks for biological
changes in genes or proteins, like EGFR or ALK, that may be associated
with your cancer. In most cases, this involves testing a piece of
tissue from the cancer (a biopsy).
Motility Motility is the ability to move spontaneously and actively, consuming
energy in the process. Motility is genetically determined (see genetic
determinism) but may be affected by environmental factors.
Motor delay Motor Delay refers to children showing unusually slow development of
fine-motor or gross-motor abilities. Fine motor abilities include
things like grasping a pencil or handling a spoon.
Motor movement disorders Motor movement disorders are disorders of the nervous system that
cause abnormal and involuntary movements. They can result from damage
to the motor system. Motor disorders are defined in the fifth edition
of the Diagnostic and Statistical Manual of Mental Disorders –
published in 2013 to replace the fourth text revision – as a new
sub-category of neurodevelopmental disorders. The DSM-5 motor
disorders include developmental coordination disorder, stereotypic
movement disorder, and the tic disorders including Tourette syndrome.
Muscle biopsy A muscle biopsy is a procedure used to diagnose diseases involving
muscle tissue. Your healthcare provider will remove tissue and cells
from a specific muscle and view them microscopically. Your provider
will only need to remove a small piece of tissue from the designated
muscle. Your doctor takes the tissue sample by inserting a biopsy
needle into your muscle. If a larger sample is required, your
healthcare provider may make an incision in your skin (open biopsy)
and remove a larger section of muscle. The muscle selected for your
biopsy depends on the location of symptoms, which may include pain or
weakness. The muscles often selected for sampling are the bicep (upper
arm muscle), deltoid (shoulder muscle), or quadriceps (thigh muscle).
Genetic mutation Some inherited genetic mutations can be good for the offspring. Some
inherited genetic mutations cause few forms of cancer. Different
genetic mutations cause few forms of cancer. Somatic mutations can be
inherited from parents or acquired during life. Genetic mutations that
cause diseases are always passed on to offspring.
Myasthenia gravis Myasthenia gravis (my-us-THEE-nee-uh GRAY-vis) is characterized by
weakness and rapid fatigue of any of the muscles under your voluntary
control. It’s caused by a breakdown in the normal communication
between nerves and muscles. There’s no cure for myasthenia gravis, but
treatment can help relieve signs and symptoms, such as weakness of arm
or leg muscles, double vision, drooping eyelids, and difficulties with
speech, chewing, swallowing and breathing. Though this disease can
affect people of any age, it’s more common in women younger than 40
and in men older than 60.
Myclonic seizure Myclonic Seizure is any of various disorders marked by abnormal
electrical discharges in the brain and typically manifested by sudden
brief episodes of altered or diminished consciousness, involuntary
movements, or convulsions.
Myoclonus Myoclonus is irregular involuntary contraction of a muscle usually
resulting from functional disorder of controlling motor neurons.
Myopathy Myopathy is a disorder of the muscle tissue or muscles.
Dehydrogenase Dehydrogenase is an enzyme that accelerates the removal of hydrogen
from metabolites and its transfer to other substances.
NADH Nicotinamide adenine dinucleotide (NADH) may cause hemolytic anemia in
Neuromuscular Neuromuscular is “of or relating to nerves and muscles especially :
jointly involving or affecting nervous and muscular elements”.
Neurontin Neurontin is an anti-epileptic drug, also called an anticonvulsant.It
affects chemicals and nerves in the body that are involved in the
cause of seizures and some types of pain. Neurontin is used in adults
to treat neuropathic pain (nerve pain) caused by herpes virus or
shingles (herpes zoster).. The Neurontin is also used to treat
seizures in adults and children who are at least 3 years old.
Neropathic pain Neuropathic pain is pain caused by damage or disease affecting the
somatosensory nervous system. Neuropathic pain may be associated with
abnormal sensations called dysesthesia or pain from normally
non-painful stimuli. It may have continuous and/or episodic
components. The latter resemble stabbings or electric shocks. Common
qualities include burning or coldness, “pins and needles” sensations,
numbness and itching.
Neuropathy Neuropathy, or nerve damage, can result from a wide range of
conditions such as diabetes and even treatments like chemotherapy. In
fact, neuropathy, which is sometimes referred to as peripheral
neuropathy, is not a single health condition but rather a term used to
describe a range of health problems involving damage to the peripheral
nerves, as well as the symptoms of those issues. While the group of
conditions is irreversible, you can take steps to help prevent
neuropathy or manage it through diet, lifestyle, and treatment.
Neuropathy, ataxis and retinities pigemntosa (NARP) Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP
syndrome, is a rare disease with mitochondrial inheritance that causes
a variety of signs and symptoms chiefly affecting the nervous system
Beginning in childhood or early adulthood, most people with NARP
experience numbness, tingling, or pain in the arms and legs; muscle
weakness; and problems with balance and coordination. Many affected
individuals also have vision loss caused by changes in the
light-sensitive tissue that lines the back of the eye. In some cases,
the vision loss results from a condition called retinitis pigmentosa.
This eye disease causes the light-sensing cells of the retina
gradually to deteriorate.
Neuropsychological evaluation (NPE) Neuropsychological or also known as Neuropsychological Evaluation
(NPE) is an important component of the assessment and treatment of
brain injury, dementia, neurological conditions, and psychological and
psychiatric disorders. Neuropsychological testing is also an important
tool for examining the effects of toxic substances and medical
conditions on brain functioning.
Neropsychological issue Neuropsychological issues are the structure and function of the brain
as they relate to specific psychological processes and behaviors. It’s
an experimental field of psychology that aims to understand how
behavior and cognition are influenced by brain functioning and is
concerned with the diagnosis and treatment of behavioral and cognitive
effects of neurological disorders.
Neuropsychological testing Neuropsychological testing (unlike bedside cognitive and behavioral
neurologic screens) are standardized, meaning that they are given in
the same manner to all patients and scored in a similar manner time
after time. An individual’s scores on tests are interpreted by
comparing their score to that of healthy individuals of a similar
demographic background (i.e., of similar age, education, gender,
and/or ethnic background) and to expected levels of functioning. In
this way, a neuropsychologist can determine whether one’s performance
on any given task represents a strength or weakness.
Neuropsychological Neuropsychology studies the structure and function of the brain as
they relate to specific psychological processes and behaviors. It’s an
experimental field of psychology that aims to understand how behavior
and cognition are influenced by brain functioning and is concerned
with the diagnosis and treatment of behavioral and cognitive effects
of neurological disorders.
Neutropenia Neutropenia is the presence of abnormally few neutrophils in the
blood, leading to increased susceptibility to infection. It is an
undesirable side effect of some cancer treatments.
NPO Neutropenia means “nothing by mouth”. While meaning nothing by mouth
it is derived from the Latin words, “nil per os”, thus why it is
called NPO.
Nuclear DNA Nuclear DNA, or nuclear deoxyribonucleic acid (nDNA), is DNA contained
within a nucleus of eukaryotic organisms. Nuclear DNA encodes for the
majority of the genome in eukaryotes, with DNA located in mitochondria
and plastids coding for the rest.
Obsessive compulsive disoder (OCD) Obsessive-Compulsive Disorder (OCD) is a common, chronic and
long-lasting disorder in which a person has uncontrollable,
reoccurring thoughts (obsessions) and behaviors (compulsions) that he
or she feels the urge to repeat over and over.
Occupational therapy Occupational therapy is the use of assessment and intervention to
develop, recover, or maintain the meaningful activities, or
occupations, of individuals, groups, or communities. It is an allied
health profession performed by occupational therapists and
occupational therapy assistants. OTs often work with people with
mental health problems, disabilities, injuries, or impairments.
Oculocraniosomatic disease Oculocraniosomatic Disease, also known as, Kearns–Sayre syndrome (KSS)
is a mitochondrial myopathy with a typical onset before 20 years of
age. KSS is a more severe syndromic variant of chronic progressive
external ophthalmoplegia (abbreviated CPEO), a syndrome that is
characterized by isolated involvement of the muscles controlling
movement of the eyelid (levator palpebrae, orbicularis oculi) and eye
(extra-ocular muscles). This results in ptosis and ophthalmoplegia
respectively. KSS involves a combination of the already described CPEO
as well as pigmentary retinopathy in both eyes and cardiac conduction
abnormalities. Other symptoms may include cerebellar ataxia, proximal
muscle weakness, deafness, diabetes mellitus, growth hormone
deficiency, hypoparathyroidism, and other endocrinopathies.[2] In both
of these diseases, muscle involvement may begin unilaterally but
always develops into a bilateral deficit, and the course is
progressive. This discussion is limited specifically to the more
severe and systemically involved variant.
OHI OHI is a popular indicator developed in 1960 to determine oral hygiene
status in epidemiological studies. The index consists of an oral
debris score and a calculus score. Six indicator teeth are examined
for soft deposits and calculus. Numerical values are assigned to the
six indicator teeth according to the extraneous deposits present. The
scores are added and divided by the number of surfaces examined to
calculate the average oral hygiene score.
Optic nerve atrophy Optic nerve atrophy also known as Optic Neuropathy is damage to the
optic nerve from any cause. Damage and death of these nerve cells, or
neurons, leads to characteristic features of optic neuropathy. The
main symptom is loss of vision, with colors appearing subtly washed
out in the affected eye. On medical examination, the optic nerve head
can be visualised by an ophthalmoscope. A pale disc is characteristic
of long-standing optic neuropathy. In many cases, only one eye is
affected and patients may not be aware of the loss of color vision
until the doctor asks them to cover the healthy eye.
Organelle Organelle is a specialized cellular part (such as a mitochondrion,
chloroplast, or nucleus) that has a specific function and is
considered analogous to an organ.
Organic acidemia Organic acidemia, is a term used to classify a group of metabolic
disorders which disrupt normal amino acid metabolism, particularly
branched-chain amino acids, causing a buildup of acids which are
usually not present.
Clinical trial Clinical trial is a scientifically controlled study of the safety and
effectiveness of a therapeutic agent (such as a drug or vaccine) using
consenting human subjects.
Osmotic laxative Osmotic Laxatives, purgatives, or aperients are substances that loosen
stools and increase bowel movements. They are used to treat and
prevent constipation. Laxatives vary as to how they work and the side
effects they may have. Certain stimulant, lubricant and saline
laxatives are used to evacuate the colon for rectal and bowel
examinations, and may be supplemented by enemas under certain
circumstances. Sufficiently high doses of laxatives may cause
Oxidative phosphorylation (OX-PHOS) Oxidative phosphorylation (OX-phos) IS the synthesis of ATP by
phosphorylation of ADP for which energy is obtained by electron
transport and which takes place in the mitochondria during aerobic
Oxidative stress Oxidative stress reflects an imbalance between the systemic
manifestation of reactive oxygen species and a biological system’s
ability to readily detoxify the reactive intermediates or to repair
the resulting damage. Disturbances in the normal redox state of cells
can cause toxic effects through the production of peroxides and free
radicals that damage all components of the cell, including proteins,
lipids, and DNA. Oxidative stress from oxidative metabolism causes
base damage, as well as strand breaks in DNA. Base damage is mostly
indirect and caused by reactive oxygen species generated, e.g. O₂⁻, OH
and H₂O₂. Further, some reactive oxidative species act as cellular
messengers in redox signaling. Thus, oxidative stress can cause
disruptions in normal mechanisms of cellular signaling.
Palliative Care Palliative care is an interdisciplinary approach to specialized
medical and nursing care for people with chronic conditions. It
focuses on providing relief from the symptoms, pain, physical stress,
and mental stress at any stage of illness. The goal is to improve
quality of life for both the person and their family. Evidence as of
2016 supports palliative care’s efficacy in the improvement of a
patient’s quality of life. Palliative care is provided by a team of
physicians, nurses, physiotherapists, occupational therapists,
speech-language pathologists and other health professionals who work
together with the primary care physician and referred specialists and
other hospital or hospice staff to provide additional support. It is
appropriate at any age and at any stage in a serious illness and can
be provided as the main goal of care or along with curative treatment.
Although it is an important part of end-of-life care, it is not
limited to that stage. Palliative care can be provided across multiple
settings including in hospitals, at home, as part of community
palliative care programs, and in skilled nursing facilities.
Interdisciplinary palliative care teams work with people and their
families to clarify goals of care and provide symptom management,
psycho-social, and spiritual support. Physicians sometimes use the
term palliative care in a sense meaning palliative therapies without
curative intent, when no cure can be expected (as often happens in
late-stage cancers). For example, tumor debulking can continue to
reduce pain from mass effect even when it is no longer curative. A
clearer usage is palliative, noncurative therapy when that is what is
meant, because palliative care can be used along with curative or
aggressive therapies.Medications and treatments are said to have a
palliative effect if they relieve symptoms without having a curative
effect on the underlying disease or cause. This can include treating
nausea related to chemotherapy or something as simple as morphine to
treat the pain of broken leg or ibuprofen to treat pain related to an
influenza infection.
Exocrine pancreatic insufficiency Exocrine pancreatic insufficiency is the inability to properly digest
food due to a lack of digestive enzymes made by the pancreas. EPI is
found in humans afflicted with cystic fibrosis and Shwachman–Diamond
syndrome, and is common in dogs. EPI is caused by a progressive loss
of the pancreatic cells that make digestive enzymes; loss of digestive
enzymes leads to maldigestion and malabsorption of nutrients from
normal digestive processes.
Paresthesia Paresthesia is a sensation of pricking, tingling, or creeping on the
skin that has no objective cause.
Paroxysmal neuropathies Paroxysmal extreme pain disorder is considered a form of peripheral
neuropathy because it affects the peripheral nervous system, which
connects the brain and spinal cord to muscles and to cells that detect
sensations such as touch, smell, and pain.
Peripheral nervous system (PNS) Peripheral Nervous System (PNS) is the part of the nervous system that
is outside the central nervous system and comprises the cranial nerves
excepting the optic nerve, the spinal nerves, and the autonomic
nervous system.
Peripheral neuropathy Peripheral Neuopathy is a disease or degenerative state of the
peripheral nerves in which motor, sensory, or vasomotor nerve fibers
may be affected and which is marked by muscle weakness and atrophy,
pain, and numbness.
Pervasive development disorder (PDD) The diagnostic category pervasive developmental disorders, as opposed
to specific developmental disorders, is a group of five disorders
characterized by delays in the development of multiple basic functions
including socialization and communication. The pervasive developmental
disorders are: All autism spectrum disorders and Rett syndrome.
Petit mal seizure Petit Mal Seizure, also known as an “absence seizure” is a
nonconvulsive seizure that is marked by the temporary impairment of
consciousness usually manifested as a blank facial expression, that
begins and ends abruptly, and that is usually unremembered afterward.
An absence seizure is a type of generalized seizure affecting both
cerebral hemispheres and usually lasting from a few seconds to no more
than 30 seconds. Absence seizures are often accompanied by unconscious
repetitive movements (such as smacking of the lips or blinking of the
eyelids) and may occur many times a day. This type of seizure is
characteristic of childhood and juvenile absence epilepsies.
Grand mal seizure A Grand mal seizure is a seizure marked by abrupt loss of
consciousness with initially prolonged tonic muscle contractions
followed by clonic muscle spasms
Phenotype Phenotype is the observable properties of an organism that are
produced by the interaction of the genotype and the environment.
Phenylalanine Phenylalanine is an essential amino acid C9H11NO2 that is converted in
the normal body to tyrosine.
Phenylketonuria (PKU) Phenylketonuria (PKU) is an inherited metabolic disorder caused by an
enzyme deficiency resulting in accumulation of phenylalanine and its
metabolites in the blood causing usually severe intellectual
disability and seizures unless phenylalanine is restricted from the
diet beginning at birth.
Physiatrist Physiatrist is a physician who specializes in physical medicine and
Physical medicine and rehabilitation, also known as Physical Therapy,
Physiatry, and Physical Medicine
Physical medicine and rehabilitation (Physical Therapy) is a medical
specialty concerned with preventing, diagnosing, and treating
disabling diseases, disorders, and injuries by physical means (as by
the use of electrotherapy, therapeutic exercise, or pharmaceutical
pain control) — called also physiatry, physical medicine.
Physiotherapist A Physiotherapist is also known as a Physical Therapist. (see above)
Plasma Amino Acids Plasma amino acids is a screening test done on infants that looks at
the amounts of amino acids in the blood. Amino acids are the building
blocks for proteins in the body.
Alanine Aminotransferase (ALT) Alanine aminotransferase (ALT) is an enzyme found primarily in the
liver and kidney. It was originally referred to as serum glutamic
pyruvic transaminase (SGPT). Normally, a low level of ALT exists in
the serum. ALT is increased with liver damage and is used to screen
for and/or monitor liver disease.
DNA Polymerase subunit gamma (POLG) DNA polymerase subunit gamma is an enzyme that in humans is encoded by
the POLG gene. POLG is a gene that codes for the catalytic subunit of
the mitochondrial DNA polymerase, called DNA polymerase gamma. The
human POLG cDNA and gene were cloned and mapped to chromosome band
Prader-Willi Syndrome Prader-Willi Syndrome is a genetic disorder characterized especially
by short stature, intellectual disability, hypotonia, functionally
deficient gonads, and uncontrolled appetite leading to extreme
Precautions against catabolism in people with mitochondrial diseases The best treatment against catabolism is preventing it from occurring.
This means: – Prevent prolonged fasting with maintaining oral fluid
intake and/or IV fluids before and after a procedure/surgery – Ensure
that the fluids provided contain a source of dextrose – Avoid
medications that may be toxic to the mitochondria, such as propofol,
aminoglycosides, and valproic acid, when possible – Avoid fluids that
may be toxic to the mitochondria, such as ringer’s lactate – Prevent
over-sedation by volatile anesthetics – Ensure that the patient has an
illness precautions letter.
Primary diagnosis Primary Diagnosis is the condition having the most impact on patient’s
health, length of stay, resource consumption and the like, regardless
of when it occurred during the hospital admission. The primary
diagnosis may or may not be the same as the principal diagnosis.
Primary Generalized Epilepsy Types of Primary Generalized Epilepsy Seizures Myoclonic: Limbs or the
whole body experience “jerks” during the daytime, when the patient is
awake. Absence: Brief staring spells that last three to five seconds.
Eyelid myoclonia with absences: Absence seizures with eye rolling and
Probiotics Probiotics are microorganisms (such as lactobacillus) that when
consumed (as in a food or a dietary supplement) maintains or restores
beneficial bacteria to the digestive tract.
Prognosis Prognosis is the prospect of recovery as anticipated from the usual
course of disease or peculiarities of the case.
Propofol Propofol is a sedating and hypnotic agent C12H18O administered
intravenously to induce and maintain anesthesia or sedation.
Proton A proton is an elementary particle that is identical with the nucleus
of the hydrogen atom, that along with the neutron is a constituent of
all other atomic nuclei, that carries a positive charge numerically
equal to the charge of an electron, and that has a mass of 1.673 ×
10−27 kilogram.
Intestinal Pseudo obstruction An intestinal pseudo obstruction is a condition in which the patient
has symptoms of intestinal obstruction with no sign of actual physical
obstruction. This condition may be due to problems with the nerves
that control intestinal muscles or to other causes.
Psychotropic drugs The phrase “psychotropic drugs” is a technical term for psychiatric
medicines that alter chemical levels in the brain which impact mood
and behavior.
Ptosis Ptosis is a sagging or prolapse of an organ or part especially : a
drooping of the upper eyelid.
Pulmonary function assessment Pulmonary function assessment carried out by pulmonary function tests,
or PFTs, measure how well your lungs work. They include tests that
measure lung size and air flow, such as spirometry and lung volume
tests. Other tests measure how well gases such as oxygen get in and
out of your blood.
Pyruvate dehydrogenase complex (PDC) Pyruvate dehydrogenase complex (PDC) is a complex of three enzymes
that convert pyruvate into acetyl-CoA by a process called pyruvate
decarboxylation. Acetyl-CoA may then be used in the citric acid cycle
to carry out cellular respiration, and this complex links the
glycolysis metabolic pathway to the citric acid cycle.
Pyruvate dehyrdogenase complex deficiency (PDCD) Pyruvate dehydrogenase deficiency (also known as pyruvate
dehydrogenase complex deficiency or PDCD) is one of the most common
neurodegenerative disorders associated with abnormal mitochondrial
metabolism. PDCD is an X-linked disease that shows heterogeneous
characteristics in both clinical presentation and biochemical
Pyruvic acid Pyruvic acid is a yellowish organic acid which occurs as an
intermediate in many metabolic processes, especially glycolysis.
Quadriparesis Quadriparesis is a muscle weakness affecting all four limbs and is
also referred to as tetraparesis.
Ragged red fibers (RRF) Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that
affects many parts of the body, particularly the muscles and nervous
system. In most cases, the signs and symptoms of this disorder appear
during childhood or adolescence. The features of MERRF vary widely
among affected individuals, even among members of the same family.
Reactive oxygen species (ROS) Reactive oxygen species (ROS) are chemically reactive molecules
containing oxygen. Examples include peroxides, superoxide, hydroxyl
radical, and singlet oxygen. In a biological context, ROS are formed
as a natural byproduct of the normal metabolism of oxygen and have
important roles in cell signaling and homeostasis.
Autosomal Recessive inheritance Autosomal Recessive Inheritance is a result of a recessive mutation in
one of the autosomes. This genetic defect affects children whose
parents, both father and mother, are carriers of one recessive gene
Gastroesophageal Reflux Gastroesophageal Reflux, also known as heartburn, is the backward flow
of the contents of the stomach into the esophagus that is due to
malfunctioning of a sphincter at the lower end of the esophagus.
Refractory to treatment In medicine, refractory describes a disease or condition which does
not respond to attempted forms of treatment. A cancer is said to be
refractory when it does not respond to (or is resistant to) cancer
Regression Regression (also known as reversion) is a progressive decline of
manifestation of a disease; a gradual loss of differentiation and
function by a body part especially as a physiological change
accompanying aging; and/or a gradual loss of memories and acquired
Rehabilitation physician Physical medicine and rehabilitation, also known as physiatry and
physiatrics, is a branch of medicine that aims to enhance and restore
functional ability and quality of life to those with physical
impairments or disabilities. A physician having completed training in
this field may be referred to as a physiatrist or a Rehabilitation
physician. Physiatrists specialize in restoring optimal function to
people with injuries to the muscles, bones, ligaments, or nervous
Renal tubular acidosis Renal tubular acidosis is the decreased ability of the kidneys to
excrete hydrogen ions that is associated with a defect in the renal
tubules without a defect in the glomeruli and that results in the
production of urine deficient in acidity.
Respiratory chain Respiratory chain is the metabolic pathway along which electron
transport occurs in cellular respiration; the series of respiratory
enzymes involved in this pathway.
Respiratory syncytial virus (RSV) Respiratory syncytial virus (RSV) is a paramyxovirus (species Human
respiratory syncytial virus of the genus Pneumovirus) that is
responsible for severe respiratory diseases (such as bronchopneumonia
and bronchiolitis) in children and especially in infants.
Restorative Restorative is something that serves to restore to consciousness,
vigor, or health.
Schizophrenia Schizophrenia is a long-term mental disorder of a type involving a
breakdown in the relation between thought, emotion, and behavior,
leading to faulty perception, inappropriate actions and feelings,
withdrawal from reality and personal relationships into fantasy and
delusion, and a sense of mental fragmentation.
Secondary diagnosis Secondary diagnosis means a diagnosis other than the principal
diagnosis for which an inpatient is admitted to a hospital.
Primary mitochondrial myopathy (PMM) Primary mitochondrial myopathy (PMM) is a mitochondrial disease that
causes prominent muscular problems is called a mitochondrial myopathy
(myo means muscle, and pathos means disease), while a mitochondrial
disease that causes both prominent muscular and neurological problems
is called a mitochondrial encephalomyopathy (encephalo refers to the
Seizure A seizure is a sudden experiencing of a physical or mental disorder
(i.e. an epileptic seizure).
Selective serotonin reuptake inhibitor (SSRI) SSRI definition is – any of a class of antidepressants (such as
fluoxetine) that inhibit the inactivation of serotonin by blocking its
reuptake by presynaptic neuron endings —called also selective
serotonin reuptake inhibitor.
Sensorineural deafness, also known as Sensorineural Hearing Loss
Sensorineural Hearing Loss (SNHL) is due to problems of the inner ear,
also known as nerve-related hearing loss.
Sensory processing disorder or SPD, originally called Sensory
Integration Dysfunction
Sensory Processing Disorder or SPD (originally called Sensory
Integration Dysfunction) is a neurological disorder in which the
sensory information that the individual perceives results in abnormal
responses. Sensory processing refers to the way the nervous system
receives messages from the senses and turns them into responses.
Sensory peripheral neuropathy Sensory peripheral neuropathy can make a simple task such as walking
into a store or physician’s office a difficult one. Sensory peripheral
neuropathy impedes your ability to feel or “sense” your feet, making
it difficult to keep a steady gait. You may lose your balance and
become more prone to falls.
Sensory processing disorder (SPD) Sensory Processing Disorder is currently a symptom or an “other”
(meaning SPD doesn’t exist) The DSM-5 lists sensory processing issues
as a symptom of a number of mental health conditions. The ICD book
lists “sensory integration disorder” under F88; however, this code is
classified as an “other condition”.
Serum ALT/ AST A normal serum ALT test result can range from 7-55 units per liter
(U/L); levels are normally higher in men; slightly high ALT levels may
be caused by: Alcohol abuse, Cirrhosis (long-term damage and scarring
of the liver), Mononucleosis, and drugs such as statins, aspirin, and
some sleep aids. Aspartate aminotransferase (also known as AST or
glutamic-oxaloacetic transaminase) is an enzyme that promotes transfer
of an amino group from glutamic acid to oxaloacetic acid and that when
present in abnormally high levels in the blood is a diagnostic
indication of heart attack or liver disease.
Short bowel syndrome Short bowel syndrome is defined as malabsorption from the small
intestine that is marked by diarrhea, malnutrition, and steatorrhea
and that results from resection of the small intestine.
Smooth muscle dysfunction Multisystemic Smooth Muscle Dysfunction Syndrome is a disease in which
the activity of smooth muscle throughout the body is impaired This
leads to widespread problems including blood vessel abnormalities, a
decreased response of the pupils to light, a weak bladder, and
weakened contractions of the muscles used for the digestion of food
Skeletal muscle Skeletal muscle dysfunction is very common in patients with COPD, and
may play an important role in limiting exercise performance in these
patients. Muscle strength and endurance are both decreased and the
muscle is more easily fatigued. Muscle atrophy is largely responsible
for the reduction in muscle strength.
Soft signs Soft signs are any of a number of signs that, considered collectively,
are felt to indicate the presence of damage to the central nervous
system. These signs include incoordination, visual motor difficulties,
nystagmus, the presence of associated movements, and difficulties with
motor control.
Speech Delay Speech delays in toddlers are common. In fact, language and speech
problems are the most common type of developmental delay. Speech
refers to verbal expression, including the way words are formed.
Language is a broader system of expressing and receiving information,
such as being able to understand gestures.
Speech, language, oral-motor therapy Speech and language oral motor therapy is considered to be an
effective approach when it comes to treating speech and language
disorders. Aside from being useful in improving speech production, it
is also capable of treating a lot of issues linked to feeding. If you
have a child who is facing difficulty in moving food around using his
tongue and chew it, then the therapy can work perfectly in improving
his condition. If provided by a competent and effective speech
language pathologist, the therapy can even be expected to offer a
great number of advantages.
Stamina Stamina is the bodily or mental capacity to sustain a prolonged
stressful effort or activity : endurance
Statins Statins are any of a group of drugs (such as lovastatin and
simvastatin) that inhibit the synthesis of cholesterol and promote the
production of LDL-binding receptors in the liver resulting in a
usually marked decrease in the level of LDL and a modest increase in
the level of HDL circulating in blood plasma. Statins are one of the
medications that should generally be avoided during times of illness
in individuals with mitochondrial disease.
Stroke A stroke is a sudden diminution or loss of consciousness, sensation,
and voluntary motion caused by rupture or obstruction (as by a clot)
of a blood vessel of the brain; also called apoplexy, brain attach,
and cerebrovascular accident.
Swallow dysfunction Swallowing dysfunction is a late complication of nephropathic
cystinosis, probably related to muscular dysfunction. Changes in the
consistency of foods, swallowing exercises, and long-term cysteamine
therapy should be considered for patients with cystinosis who have
difficulty in swallowing.
Swallow study Commonly referred to as the barium swallow study, swallow study is a
radiological examination that helps in visualization of the esophagus
for diagnostic purposes. It involves swallowing a radio contrast agent
known as barium sulfate. Barium comes prepared in powder form.
Synapse Synapse definition is – the point at which a nervous impulse passes
from one neuron to another.
Tachycardia Tachycardia is a relatively rapid heart action whether physiological
(as after exercise) or pathological.
Total prenanteral nutrition (TPN) Parenteral nutrition (PN) is feeding a person intravenously, bypassing
the usual process of eating and digestion. The person receives
nutritional formulae that contain nutrients such as glucose, amino
acids, lipids and added vitamins and dietary minerals. It is called
total parenteral nutrition (TPN) or total nutrient admixture (TNA)
when no significant nutrition is obtained by other routes.
Toxicity Toxicity is often a relative thing; in the words of a famous old
saying, “The dose makes the poison”. Thus, it’s possible to die from
drinking too much water, and lives have been saved by tiny doses of
arsenic. Even though botulinum toxin is the most toxic substance
known, it’s the basic ingredient in Botox, which is injected into the
face to get rid of wrinkles. With some poisons, mere skin contact can
be lethal; others are lethal when breathed into the lungs in
microscopic amounts. To determine if a chemical will be officially
called a poison, researchers often use the “LD50” test: If 50
milligrams of the substance for every kilogram of an animal’s body
weight results in the death of 50% of test animals, the chemical is a
poison. But there are problems with such tests, and toxicity remains a
very individual concept.
Toxins Toxins are a poisonous substance that is a specific product of the
metabolic activities of a living organism and is usually very
unstable, notably toxic when introduced into the tissues, and
typically capable of inducing antibody formation.
Transcutaneous electrical nerve stimulations therapy (TENS) Transcutaneous electrical nerve stimulation is the use of electric
current produced by a device to stimulate the nerves for therapeutic
purposes. TENS, by definition, covers the complete range of
transcutaneously applied currents used for nerve excitation although
the term is often used with a more restrictive intent, namely to
describe the kind of pulses produced by portable stimulators used to
treat pain. The unit is usually connected to the skin using two or
more electrodes. A typical battery-operated TENS unit is able to
modulate pulse width, frequency and intensity. Generally TENS is
applied at high frequency with an intensity below motor contraction or
low frequency with an intensity that produces motor contraction. While
the use of TENS has proved effective in clinical studies, there is
controversy over which conditions the device should be used to treat.
Treatment for catabolism in patients with mitochondrial diseases Once a patient is already in a catabolic state, treatment should begin
immediately. This treatment includes: – Stop the oral intake of a
toxic compound, including any applicable medications (usually by
making the patient NPO) – Provide IV fluids with dextrose – Give IV
fluids at a higher than maintenance rate – Insulin may be needed, not
only to prevent hyperglycemia but also to provide the body with a
hormonal signal to stop catabolism – Monitor routine chemistries,
glucose, ammonia, ketones and liver function for metabolic
derangements – Correct any metabolic derangements: (1) Hypoglycemia
if hypoglycemic, administer 1-2 g/kg of glucose IV STAT; follow with
(at least) a 10% glucose solution; (2) Metabolic acidosis – administer
NaHCO3 as a bolus (1 mEq/kg) if acutely acidotic with pH < 7.22 or
bicarb level < 14, followed by a continuous infusion. (3) Hyperammonemia – the elevated ammonia reflects a secondary inhibition of the urea cycle. As treatment for the metabolic decompensation proceeds, the ammonia level should diminish. A level > 200 may require
treatment. – – Provide medications such as IV levo-carnitine (100
mg/kg/day, divided tid) to facilitate the removal of toxic metabolic
species – Treat any underlying infection and fever.
Urinary retension Urinary retention is an inability to completely empty the bladder.
Onset can be sudden or gradual. When of sudden onset, symptoms include
an inability to urinate and lower abdominal pain.
Vagal nerve stimulators (VNS) Vagal nerve stimulators (VNS) are devices that stimulate the vagus
nerve. They can be used for a variety of medical reasons. (1) They can
be used to treat epilepsy and seizures. (2) VNS have been proven to
ease Rheumatoid Arthritis. The study, of 17 adults with the painful
autoimmune disease, tested the effects of vagus nerve stimulation — a
technique long used to control seizures in some people with epilepsy.
It found that over six weeks, most of the patients showed some
improvements in joint swelling. (3) Electrical stimulation of the
vagus nerve has been shown to be helpful for chronic depression,
controlling intractable epileptic seizures, and now, when coupled with
sound therapy, has the potential to reduce noise levels in those with
tinnitus. (4) Vagus nerve stimulation (VNS) is a surgical procedure
that can be used to treat those with treatment-resistant depression. A
pacemaker-like device, implanted in the body, is attached to a
stimulating wire that is threaded along a nerve called the vagus
nerve. The vagus nerve travels up the neck to the brain, where it
connects to areas believed to be involved in regulating mood. Once
implanted, this device delivers regular electrical impulses to the
vagus nerve. (5) This non-invasive, FDA-cleared treatment option
decreases the likelihood of headaches. Recent clinical trials have
been evaluating vagus nerve stimulation (VNS) for the treatment of
various headache conditions, including migraine and cluster headaches.
In November 2018, the FDA cleared the VNS device for treatment of
cluster headache.
Valproic acid Valproic acid is a synthetic crystalline compound with anticonvulsant
properties, used (generally as salts) in the treatment of
epilepsy. Valproic acid is one of the medications that should generally
be avoided during times of illness in individuals with mitochondrial
disease. If valproic acid (valproate) be used for the first time
during an acute mitochondrial illness, liver enzymes, ammonia and
synthetic live function should be closely monitored.
X-linked gene inheritance Genes are inherited from our biological parents in specific ways. One
of the basic patterns of inheritance of our genes is called X-linked
inheritance. X-linked gene inheritance means that the gene causing the
trait or the disorder is located on the X chromosome.