myopathy (redirected from congenital myotonic myopathy)

myopathy /my·op·a·thy/ (mi-op´ah-the) any disease of muscle.myopath´ic

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centronuclear myopathy  myotubular m.

mitochondrial myopathy  any of a group of myopathies associated with an increased number of large, often abnormal, mitochondria in muscle fibers and manifested by exercise intolerance, weakness, lactic acidosis, infantile quadriparesis, ophthalmoplegia, and cardiac abnormalities.

myotubular myopathy  an often fatal X-linked myopathy 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  progressive external ophthalmoplegia.

thyrotoxic myopathy  weakness and wasting of skeletal muscles, especially of the pelvic and shoulder girdles, accompanying hyperthyroidism.

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my·op·a·thy (m-p-th)

n.

Any of various abnormal conditions or diseases of the muscular tissues, especially one involving skeletal muscle.

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myo·pathic (m-pthk) adj.

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Myopathy

A disorder that causes weakening of muscles.

Mentioned in: Alcohol-Related Neurologic Disease, Dermatomyositis, Sick Sinus Syndrome

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myopathy

[mī·op′əthē]

Etymology: Gk, mys + pathos, disease

an abnormal condition of skeletal muscle characterized by muscle weakness, wasting, and histologic changes within muscle tissue, as seen in any of the muscular dystrophies. A myopathy is distinct from a muscle disorder caused by nerve dysfunction. The specific diagnosis is made by using tests of serum enzyme levels, electromyography, and muscle biopsy. See also muscular dystrophy. myopathic, adj.

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myopathy (mī·ōˑ·p·thē),

n a condition of the musculoskeletal system characterized by muscle wasting, weakness, and histologic changes.

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myopathy (mīop´thē),

n weakness or degeneration of skeletal muscles associated with the many forms of muscular dystrophy. This should be distinguished from neuromuscular disorders.

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myopathy

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.

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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.

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myopathy

Orthopedics Any disease of skeletal muscle. See Central core myopathy, Centronuclear myopathy, Colchicine myopathy, Exertional myopathy, Fetal alcohol myopathy, Mitochondrial myopathy, Myotubular myoathy, Nemaline myopathy, Spheroid body myopathy, Vacuolar myopathy, X-linked centronuclear (myotubular) myopathy, Zebra body myopathy. Cf Cardiomyopathy.