Myopathy, Desmin Storage

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Myopathy, Desmin Storage is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Cardiomyopathy Due to Desmin Defect
  • Desmin Storage Myopathy
  • Myopathy with Sarcoplasmic Bodies and Intermediate Filaments

Disorder Subdivisions

  • Congenital Proximal Myopathy Associated with Desmin Storage Myopathy
  • Cardiomyopathy Associated with Desmin Storage Myopathy
  • Autosomal Dominant Desmin Distal Myopathy with Late Onset

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.


March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
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American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see

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