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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



What is MYH7-related scapuloperoneal myopathy?

What causes MYH7-related scapuloperoneal myopathy?

How might scapuloperoneal myopathy be treated?


What is MYH7-related scapuloperoneal myopathy?

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

What causes MYH7-related scapuloperoneal myopathy?

MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.[3]
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. MYH7. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/gene/MYH7. Accessed 8/9/2012.