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Definition - a group of diseases that affect the mitochondria, tiny energy factories found inside almost all cells, and interfere with the function of muscles. The group is comprised of Kearns-Sayre syndrome (KSS) ; Leigh's syndrome ; mitochondrial DNA depletion syndrome (MDS) ; mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS) ; myoclonus epilepsy with ragged red fibers (MERRF) ; mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) ; neuropathy, ataxia and retinitis pigmentosa (NARP) ; Pearson syndrome; and progressive external ophthalmoplegia (PEO).
Cause - a defect in either a mitochondrial gene or a gene in the cell nucleus that affects the functioning of the mitochondria
Onset - varies according to disease
Symptoms - vary according to disease; in general, nervous system impairment, eye problems, cardiac abnormalities, skeletal muscle abnormalities, and disorders of the gastrointestinal tract
Progression - varies according to disease
Inheritance - if defect is in a mitochondrial gene, inheritance is from mother only; if in a nuclear gene, it depends on the gene and is not restricted to maternal inheritance
 Facts About Mitochondrial Myopathies
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