Mitochondrial myopathy
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| Mitochondrial myopathy | |
| File:562px-Diagram of a human mitochondrion.png | |
|---|---|
| Simplified structure of a typical mitochondrion | |
| ICD-10 | G71.3 |
| MeSH | D017240 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.
Examples include:
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
- varying degrees of cognitive impairment and dementia
- lactic acidosis
- strokes
- transient ischemic attacks
- hearing loss
- dysmotility
- weight loss
Myoclonic epilepsy and ragged-red fibers (MERRF)
- progressive myoclonic epilepsy
- clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain
- short stature
Kearns-Sayre syndrome (KSS)
- external ophthalmoplegia
- cardiac conduction defects
- sensory-neural hearing loss
Progressive external ophthalmoplegia (PEO)
- progressive ophthalmoparesis is the cardinal feature
- symptomatic overlap with many other mitochondrial myopathies
Template:PNS diseases of the nervous system Template:Mitochondrial diseases