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

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Nemaline myopathy occurs in 3 forms based on age of onset and severity of clinical symptoms.
Our son has a neuromuscular disease, called nemaline myopathy, which is a rare form of muscular dystrophy.
cystic fibrosis, fragile X syndrome and spinal muscular atrophy), tests for hemoglobinopathies (sickle cell anemia, alpha thalassemia and beta thalassemia) and routine tests for the Ashkenazi Jewish population, Good Start now offers the following additional tests: dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, glycogen storage disease type 1a, Joubert syndrome 2, maple syrup urine diseases type A/B, nemaline myopathy, Usher syndrome type 1F, Usher syndrome type III, and Walker-Warburg syndrome.