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by mtarsi

General Management

A. When the Patient is Well

i. Nutrition

ii. Diet

iii. Fluids

iv. Fasting tolerance

Jul 02, 2008 Comments: 0
by mtarsi

A patient's caregivers (the parent, the spouse, or other family member) are often superb observers who appreciate the minor and major symptoms that a patient displays when s/he is not feeling well.  They also know what a patient's baseline level of good health looks like.  However, the vast majority of caregivers are not medically-trained and so may not be able to assess properly or fully the severity of a patient's symptoms.  Furthermore, they may be unable to discern appropriate behavior or physical findings that do not require intervention from those that require attention

Jul 02, 2008 Comments: 0
by mtarsi

Different clinicians run their practices differently.  Some have more support staff available that can help the clinician accommodate the many and frequent needs of a family with a mitochondrial patient.  Some are primarily community-based practices with few or infrequent connections with a wide array of specialists.  Some are very high-volume practices that would be very overwhelmed by a case that is so chronic and medically intensive.

Jul 02, 2008 Comments: 0
by mtarsi

The key word in describing the care needed by a mitochondrial disease patient is thorough.  Given the complicated nature of the disease, a complete and detailed history will identify the many challenges facing the patient and family.Below is a list of questions that compose a suitable review of systems.GENERAL

Infections - are symptoms (esp. fatigue) more severe than in sibs or than expected.  Is recovery to baseline overly long (by days or weeks)? Tolerance to general anesthesia.

NEUROLOGICAL

Jul 02, 2008 Comments: 0
by mtarsi

As we learn from Lewis Carroll's Alice in Wonderland, it is (truly) best to start at the beginning.  The provider should collect what medical history is available, from the many providers s/he has seen, and review them.  This can be a time-consuming undertaking but can pay off in a better and more thorough understanding of the patient's issues and the medical journey s/he has followed.  On the one hand, reviewing the material in advance of the patient's initial visit can make that visit more productive, productive enough for a comprehensive managemen

Jul 02, 2008 Comments: 0
by mtarsi

It is easy to understand how a clinician can quickly feel overwhelmed when taking on the care of a new patient with mitochondrial disease.  First it is rare that the primary provider has even heard of mitochondrial disease, so her/his having a base of knowledge about or experience with these disorders is non-existent.  There are few resources available that can aid in the details of such a patient's care.  Mitochondrial patients have multiple active issues with several subspecialists involved in the case.  The patient's parents (especially the mother who is usually the p

Jul 02, 2008 Comments: 0
by mtarsi

Bakker HD, Scholte HR, Jeneson JA.  Vitamin E in a mitochondrial myopathy with proliferating mitochondria.  Lancet 1993;342(8864):175.

Bennett MJ, Sherwood WG, Gibson KM, Burlina AB.  Secondary inhibition of multiple NAD-requiring dehydogenases in respiratory complex I deficiency: Possible metabolic markers for the primary defect.  J Inher Metab Dis 1993;16:560-62.

Bradley JL, Blake JC, Chamberlain S, et al.  Clinical, biochemical, and molecular genetic correlations in Friedreich's ataxia.  Hum Molec Gen 2000;9(2):275-82.

Jun 30, 2008 Comments: 0
by mtarsi

There is no simple way of simply increasing the capacity of the cell to generate energy.

Treatment then demands attention to aspects of care that can increase or promote energy production and mechanisms for reducing energy losses (Chinnery, 2003).  Special recommendations are necessary for school and the workplace.  Regular monitoring is also important for documenting progression of the disease, allowing (often effective) intervention to occur.

 

PROMOTING ENERGY PRODUCTION:

Jun 30, 2008 Comments: 0
by mtarsi

The classification of mitochondrial diseases is lacking and remains under development.  Available classifications (e.g., based on molecular etiology or to functional deficit) do not necessarily have a meaningful clinical application where the patient is concerned.  Disorders are called by their enzymatic defect, or by the DNA lesion, or by an acronym (usually describing certain significant symptoms), or by eponyms based on the name of a clinician or scientist who played a major role in identifying one or more patients with a particular phenotype.  However, as a rule, there is

Jun 30, 2008 Comments: 0

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