Changing Perceptions in Mitochondrial Disease

admin  ∼  September 12, 2014  ∼  Mitochondrial disease Muscle biopsy Gene testing Symptom Diagnose Whole Exome Sequencing (WES) Evaluation Medical Abuse Somatoform

VMP's Dr Fran Kendall Factoid Friday Blog on Rare Diseases


At this summer’s UMDF meeting, a number of changing perceptions were discussed and re-emphasized for both an improved understanding for other non-mito health care providers and that of the mito patient population. Some of the major points emphasized are as follows:

1) Primary mito disease is defined as one caused by a mutation in a mitochondrial gene or classic disease presentation (Leigh disease) and is progressive in nature.


2) Secondary mitochondrial disorders may occur due to damage of mitochondria and their functionality but do not cause progressive disease although affected patients may improve with the mito cocktail (patients with HIV myopathy, for example).


3) There are primary mito disease patients who CANNOT be diagnosed due to technology limitations. Of note, this is a critical point given that patients who fall into this group are those often targeted by hospital systems and family services. 


4) Muscle biopsies are rarely obtained anymore by most true mito specialists and have been shown to be abnormal due to environmental factors. Studies out of several countries including Canada found that patients with FTT have complex I and IV deficiencies which resolve with improved nutritional status. Also, if they are obtained they do NOT need to be fresh but muscle testing should not be limited to histology studies ONLY.

This post is not meant to be a recommendation or a substitute for professional advice and services rendered by qualified doctors, allied medical personnel, and other professional services. The responsibility for any use of this information, or for proper medical treatment, rests with you.