Myopathy(redirected from congenital myotonic myopathy)
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Related to congenital myotonic myopathy: Congenital myotonic dystrophy
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.
REFERENCESBadalian, 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