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Diseases

Genetic and Rare Diseases Information Center (GARD)

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MYH7-related scapuloperoneal myopathy


Other Names for this Disease
  • Scapuloperoneal muscular dystrophy
  • Scapuloperoneal myopathy, MYH7-related
  • Scapuloperoneal syndrome, myopathic type
  • SPMD
  • SPMM
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Overview


MYH7-related 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. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases.[1][2] 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.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss MYH7-related scapuloperoneal myopathy. Click on the link to view a sample search on this topic.