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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked dominant scapuloperoneal myopathy


Other Names for this Disease
  • Scapuloperoneal myopathy, X-linked dominant
  • Scapuloperoneal myopathy, FHL1-related
  • SPM
Related Diseases
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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.
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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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, X-linked dominant
  • Scapuloperoneal myopathy, FHL1-related
  • SPM
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.