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Copyright 1994, 1995, 2000
Synonyms of Myopathy, Desmin Storage
- Cardiomyopathy Due to Desmin Defect
- Desmin Storage Myopathy
- Myopathy with Sarcoplasmic Bodies and Intermediate Filaments
Disorder Subdivisions
- Autosomal Dominant Desmin Distal Myopathy with Late Onset
- Cardiomyopathy Associated with Desmin Storage Myopathy
- Congenital Proximal Myopathy Associated with Desmin Storage Myopathy
General Discussion
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.
Organizations related to Myopathy, Desmin Storage
- American Heart Association
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
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