It is possible that the main title of the report Myopathy, Desmin Storageis not the name you expected.
- Cardiomyopathy Due to Desmin Defect
- Desmin Storage Myopathy
- Myopathy with Sarcoplasmic Bodies and Intermediate Filaments
- Congenital Proximal Myopathy Associated with Desmin Storage Myopathy
- Cardiomyopathy Associated with Desmin Storage Myopathy
- Autosomal Dominant Desmin Distal Myopathy with Late Onset
Desmin storage myopathy (DSM) is a rare inherited muscle disorder that may be apparent at birth (congenital) or may not appear until as late as age 40. Three forms of this disorder have been described in the medical literature. The symptoms and age of onset depend upon which form affects the individual. Symptoms of late onset desmin storage myopathy (autosomal dominant DSM) may include weakness of the muscles at the base of the thumb and/or weakness of the muscles used to flex the hand. Muscle weakness in the face, shoulder, and/or pelvic area, a spine that curves backward and to one side, and/or heart disease may occur in the congenital form of the disorder. The third form of desmin storage myopathy is characterized by heart disease (cardiomyopathy associated with DSM) that appears at variable ages and may lead to life-threatening complications.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
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Last Updated: 5/21/2008
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