mitochondrial myopathy

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Related to mitochondrial myopathy: Mitochondrial disease


any disease of a muscle. adj., adj myopath´ic.
centronuclear myopathy myotubular myopathy.
distal myopathy an autosomal dominant form of muscular dystrophy, appearing in two types. The first has onset in infancy, does not progress past adolescence, and is not incapacitating. The second has onset in adulthood and is called late distal hereditary myopathy. Called also distal muscular dystrophy.
glycolytic myopathy any metabolic myopathy resulting from a defect of glycolytic enzyme activity, marked by exercise intolerance and cramping, the accumulation of glycogen in muscle, and recurrent myoglobinuria.
late distal hereditary myopathy distal myopathy that sets in usually after age 40, does not affect life span and first affects the small muscles of the hands and feet and then spreads proximally.
metabolic myopathy myopathy due to disordered metabolism, usually caused by genetic defects or hormonal dysfunction.
mitochondrial myopathy any of a group of myopathies associated with an increased number of enlarged, often abnormal, mitochondria in muscle fibers, manifested by exercise intolerance, generalized weakness, lactic acidosis, infantile tetraparesis, ophthalmoplegia, and cardiac abnormalities.
myotubular myopathy a form marked by myofibers resembling the myotubules of early fetal muscle.
nemaline myopathy a congenital abnormality of myofibrils in which small threadlike fibers are scattered through the muscle fibers; marked by hypotonia and proximal muscle weakness.
ocular myopathy a slowly progressive form affecting the extraocular muscles, with ptosis and progressive immobility of the eyes.

mi·to·chon·dri·al my·op·a·thy

weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. There are autosomal dominant [MIM*251900] and recessive forms due to deletions or duplications of mitochondrial DNA, with one recessive form [MIM*252010] associated with a deficiency of complex I of the mitochondrial respiratory chain.


strictly speaking, any disease of a muscle. Common usage is to restrict its use to describe the noninflammatory degenerations of skeletal muscle characterized by hyaline degeneration of muscle fibers, muscle weakness, myoglobinuria and a high serum level of muscle enzymes. This includes post-exertional rhabdomyolysis, enzootic nutritional muscular dystrophy, congenital myopathies, neurogenic atrophy and pale, soft, exudative pork. See also muscular.

capture myopathy
an acute myopathy occurring most frequently in wild animals after a long chase or with a lot of struggling. The course is short and the death rate high. Affected animals are recumbent, dyspneic, hyperthermic and show muscle tremor. It is basically an exertional myopathy.
centronuclear myopathy
myotubular myopathy.
congenital myotonic myopathy
see myotonia congenita.
equine polysaccharide storage myopathy
(EPSM) a form of exertional rhabdomyolysis that occurs in several breeds but particularly the Quarter horse and draft horse breeds, resulting in muscle tremor and weakness. Affected horses have enhanced glucose storage and glycogen synthesis, elevated muscle glycogen and polysaccharide storage inclusions in type II muscle fibers, but a specific enzyme defect has not been identified.
exertional myopathy
acute myopathy occurring as a result of intensive activity of large muscle masses. See paralytic myglobinuria, tying-up syndrome, capture myopathy (above), porcine stress syndrome.
fibrotic myopathy
fibrous adhesions between the muscle masses in the posterior thigh muscles in horses. A sequel to traumatic mysositis. See also ossifying myopathy (below).
Golden retriever myopathy
a congenital disorder of muscles seen from a very young age in male Golden retrievers that show a stiff gait, abduction of thoracic limbs, bunny-hopping in the pelvic limbs, and enlargement of the tongue. The clinical signs worsen with exercise and as the dog matures. Now recognized as an X-linked inherited deficiency of dystrophin, analogous to the human disorder, Duchenne muscular dystrophy.
hereditary m's
see X-linked muscular dystrophy, Golden retriever myopathy (above), nemaline body myopathy, type II muscle fiber deficiency.
hypokalemic myopathy
see feline hypokalemic polymyopathy.
lipid storage myopathy
increased amounts of lipid accumulate in myofibers causing weakness, muscle pain and atrophy and rarely cardiomyopathy. Reported in dogs; the cause is unknown but abnormalities in levels of lactate, pyruvate and carnitine have been found.
mitochondrial myopathy
caused by a deficiency of pyruvate dehydrogenase; reported in Clumber spaniels, Sussex spaniels and Old English sheepdogs.
myotubular myopathy
a form marked by myofibers resembling those of early fetal muscle, i.e. myotubules.
nemaline myopathy
a rare inherited neuromuscular disease of humans characterized by myotonia and the presence of fine fibrous threads called nemaline rods. Reported in cats.
ossifying myopathy
calcification of the adhesions of fibrotic myopathy. A special occurrence is in the semimembranosus, semitendinosus and biceps femoris muscles of Western performance horses. See ossifying fibrotic myopathy.
myopathy post-exercise
see exertion myopathy (above).
postoperative myopathy
after a period of recumbency with general anesthesia, affected horses are usually unable to rise. If they do rise, they show severe tremor, weakness and easy falling. Serum muscle enzyme levels indicate gross muscle damage and both fore- and hindlimbs are affected.
References in periodicals archive ?
Also, Professor HANkan Westerblad and his research group at Karolinska Institutet have evaluated the effects of NeuroVive's cyclophilin inhibitors in an experimental model of mitochondrial myopathy.
Leu(UUR)] mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
Sol Jorgensen, 55, left her position as an arts lecturer at St Martins College of Art in London in the 1980s to care for her son, Seth, now 20, who suffers from mitochondrial myopathy - a genetic disorder which causes neuromuscular problems.
Mattie died in 2004, just short of his 14th birthday, of dysautonomic mitochondrial myopathy, a disease that interrupts autonomic, or automatic, functioning.
I'm now conversant in surge-suppressing, high temperature superconductor cable, and Stu can discuss inclusion, newborn screening, and mitochondrial myopathy.
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.
One hundred eight muscle biopsies were evaluated from patients referred to rule out mitochondrial myopathy.
Cori's or Forbes' disease) Mitochondrial myopathy Carnitine deficiency Carnitine palmityl transferase deficiency Phosphoglycerate kinase deficiency Phosphoglycerate mutase deficiency Lactate dehydrogenase deficiency Myoadenylate deaminase deficiency
Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.

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