Types of Mitochondrial Diseases

ADOA: Autosomal Dominant Optic Atrophy

Autosomal DominantWhen a genetic condition is caused by a change to one of someone's two copies of a gene. Autosomal conditions do not include the X or Y chromosome. Optic Atrophy is a neuro-ophthalmic condition that tends to begin in the first ten years of life and is characterized by degeneration of the optic nerves, causing visual loss. The severity of the disease is highly variable, with the visual acuity ranging from normal to legal blindness. About 20% of DOA patients present with additional multi-systemic features, including neurosensory hearing loss, or less common chronic progressive external ophthalmoplegiaParalysis or weakness of the eye muscles. A common symptom in some kinds of mitochondria disease, myopathy, peripheral neuropathy, multiple sclerosis-like illnesses, spastic paraplegia, or cataracts.

Alpers Disease

Alpers diseaseA progressive, neurodevelopmental mitochondrial DnA depletion syndrome. it is characterized by psychomotor regression (dementia), seizures and liver disease. is a rare mitochondrial condition where the protein that helps replicate and repair the mitochondrial DNA does not work as well as it should. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and in creating other materials the body needs.

Barth Syndrome

Barth syndromeA rare, genetic disorder of lipid metabolism that primarily affects males. is a rare mitochondrial condition where a protein on the mitochondrial membrane doesn’t work as well as it should, resulting in immature cardiolipin production. Cardiolipin is important for the structure and organization of the mitochondria as well as cell death. Mitochondria are parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and creating other materials the body needs. Mitochondrial conditions can cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy like muscles and the brain.

CDD: Creatine Deficiency Syndromes

The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders:

1. Guanidinoacetate methyltransferase (GAMT) deficiency
2. L-arginineAn amino acid that helps to build protein in the body.:glycine amidinotransferase (AGAT) deficiency
3. Creatine transporter (CRTR) deficiency

Co-Enzyme Q10 Deficiency

Co-Enzyme Q10 Deficiency – an autosomal recessiveWhen a genetic condition is caused by changes to both of someone's copies of a gene. Autosomal conditions do not include the X or Y chromosome. condition with a clinical spectrum that encompasses at least five major phenotypes: (1) encephalomyopathy characterized by the triad of recurrent myoglobinuriaA breakdown of muscle after exercise or muscle injury. That causes leakage of a protein called myoglobin from the muscles into the urine. This occurrence stresses the kidney's ability to filter waste, brain involvement, and ragged red fibers; (2) severe infantile multisystemic disease; (3) cerebellar ataxiaImpaired coordination of voluntary muscle movements. Manifestations can include, among others, slurred speech, poor balance, unsteady walking, falling, and involuntary eye movements (nystagmus). Usual; (4) Leigh syndrome with growth retardationWhen the fetus does not develop at a normal rate., ataxia and deafness; and (5) isolated myopathy. The variability of phenotypes suggests genetic heterogeneity, which may be related to the multiple steps in CoQ10 biosynthesis. Clinical presentation includes generalized weakness, exercise intolerance, recurrent myoglobinuria, proximal muscle weakness, seizuresEpisodes of abnormal electrical activity in the brain., cognitive impairment, cerebellar symptoms, infantile encephalopathy with renal involvement, retinitis pigmentosaThe breakdown and loss of cells in the retina. Resulting in difficulty seeing at night and the loss of side vision., optic nerve atrophy, bilateral sensorineural deafness, nephrotic syndrome, progressive ataxia, cardiomyopathyAn abnormal condition of the heart muscle. Occurs in some kinds of mitochondrial disease., hypothermia, lactic acidosis, cerebral and cerebellar atrophy, and developmental delay were associated with renal tubulopathy and ventricular hypertrophy. The clinical presentation of the variant isolated myopathy, recently described in four patients, is the subacute onset of exercise intolerance and proximal limb weakness at variable ages. Treatment includes high-dose oral CoQ10 supplementation.