Diseases & Conditions


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Myopathy, Desmin Storage


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
    National Center
    Dallas TX 75231-4596
    Phone #: 214-373-6300
    800 #: 800-242-8721
    e-mail: inquire@heart.org
    Home page: http://www.americanheart.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    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



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 http://www.rarediseases.org/search/rdblist.html