Mitochondrial myopathy
Mitochondrial myopathy |
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Simplified structure of a typical mitochondrion |
Classification and external resources |
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ICD-10 |
G71.3 |
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MeSH |
D017240 |
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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)
- 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)
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. 5 February 2008. Retrieved 2008-02-08.
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| Neuromuscular- junction disease | |
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| Myopathy/ congenital myopathy | |
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| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
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| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
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| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
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| Carbohydrate metabolism | |
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| Primarily nervous system | |
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| Myopathies | |
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| No primary system | |
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| Chromosomal | |
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| see also mitochondrial proteins
Index of cells |
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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