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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



What is X-linked scapuloperoneal myopathy?

What causes X-linked dominant scapuloperoneal myopathy?

How might scapuloperoneal myopathy be treated?


What is X-linked scapuloperoneal myopathy?

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

What causes X-linked dominant scapuloperoneal myopathy?

X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy.[4] 
Last updated: 8/9/2012

How might scapuloperoneal myopathy be treated?

There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.[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.
  4. FLH1. Genetics Home Reference (GHR). 2012; http://ghr.nlm.nih.gov/gene/FHL1. Accessed 8/9/2012.