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Animal mitochondrion diagram en (edit).svg|
| ICD-10 | G713 | |
|---|---|---|
| ICD-9 | ||
| OMIM | [1] | |
| DiseasesDB | [2] | |
| MedlinePlus | [3] | |
| eMedicine | / | |
| MeSH | {{{MeshNumber}}} | |
Mitochondrial myopathy is a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease usually demonstrate "ragged red" muscle fibers. These ragged-red fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Inheritance is maternal (non-Mendelian extranuclear). There are several subcategories of mitochondrial myopathies.
Treatment[]
Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an embryotic mitochondrial transplant.[1]
Signs and symptoms[]
Signs and symptoms 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
- Weight loss
- Myoclonic epilepsy and ragged-red fibers (MERRF)
- Progressive myoclonic epilepsy
- Clumps of diseased mitochondria accumulate in muscle fibers and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
- Short stature
- Kearns-Sayre syndrome (KSS)
- External ophthalmoplegia
- Cardiac conduction defects
- Sensorineural hearing loss
- Chronic progressive external ophthalmoplegia (CPEO)
- Progressive ophthalmoparesis
- Symptomatic overlap with other mitochondrial myopathies
References[]
- ↑ Three-parent embryo formed in lab. (web) Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents.. BBC News. URL accessed on 2008-02-08.
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359) | |||||||||||||||||||||||||||||
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| Neuromuscular- junction disease |
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| Myopathy/ congenital myopathy |
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|} Template:Mitochondrial diseases
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