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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked dominant scapuloperoneal myopathy


Other Names for this Disease

  • Scapuloperoneal myopathy, FHL1-related
  • Scapuloperoneal myopathy, X-linked dominant
  • SPM
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Overview

X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow.[1][2] Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner.[3] Treatment is symptomatic and supportive.[1]
Last updated: 8/9/2012

References

  1. Scapuloperoneal myopathy. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/436/viewAbstract. Accessed 8/9/2012.
  2. Scapuloperoneal myopathy, MYH7-related. Online Mendelian Inheritance in Man (OMIM). 2008; http://omim.org/entry/181430. Accessed 8/9/2012.
  3. Scapuloperoneal myopathy, X-linked dominant. Online Mendelian Inheritance in Man (OMIM). 2010; http://omim.org/entry/300695. Accessed 8/9/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about X-linked dominant scapuloperoneal myopathy. We will answer your question and update these pages with new resources and information.

Basic Information

  • The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked dominant scapuloperoneal myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Scapuloperoneal myopathy, FHL1-related
  • Scapuloperoneal myopathy, X-linked dominant
  • SPM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.