Myopathy

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myopathy

[mī′äp·ə·thē]
(medicine)
Any disease of the muscles. Also known as myopathia.

Myopathy

 

progressive muscular dystrophy; a hereditary disease.

Myopathies can be transmitted as autosomal recessive or dominant, or sex chromosome-linked traits. Myopathies result from metabolic disturbances in muscle cells and a change in the biosynthesis of nucleic acids; the degradation of muscle proteins is considerably more rapid than their biosynthesis. In myopathies, muscles become flaccid and some of the fibers are replaced by fatty tissue. Electron microscopy reveals structural changes in the membranes of muscle cells. The main symptoms of the disease are increasing muscular weakness, symmetrical muscular atrophy, decrease in tendon reflexes and, in the later stages, bone and joint deformity. Autonomic trophic nerve functions are invariably impaired.

Myopathy is treated with anticholinesterase preparations, anabolic hormones, and vitamins B and E. Preventive measures include early diagnosis and detection of the heterozygous carrier state for the myopathy gene by using electrophysiological and biochemical tests.

REFERENCES

Badalian, L. O., V. A. Tabolin, and Iu. V. Vel’tishchev. Nasledstvennye bolezni u detei. Moscow, 1971.
Hausmanowa-Petrusewicz, I. Myshechnye zabolevaniia. Warsaw, 1971. (Translated from Polish.)

L. O. BADALIAN

References in periodicals archive ?
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
Adult-onset nemaline myopathy and monoclonal gammopathy Arch Neurol 2006; 63: 132-4.
A rare structural myopathy: Nemaline myopathy. Turk Pediatri Ars 2019; 54(1): 3-6.
Kress et al., "Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy," Journal of Neurology, vol.
Engel, "Sporadic late onset nemaline myopathy," Neurology, vol.
In nemaline myopathy and congenital myotubular myopathy, an inadequate oxygen supply to the body during severe bouts of respiratory weakness can lead to heart problems.
Congenital nemaline myopathy has several classic clinical features.
The gold standard for diagnosis of nemaline myopathy is muscle biopsy.
There are eight inheritable myopathies: central core disease, myotonia congenita, paramyotonia congenita, myotubular myopathy, nemaline myopathy, hypokalemic periodic paralysis, hyperkalemic periodic paralysis and normokalemic periodic paralysis.
First described in 1963, nemaline myopathy is a disease of voluntary muscle that is often nonprogressive.