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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cap myopathy


Other Names for this Disease

  • Cap disease
  • Congenital myopathy with caps
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Overview

Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.[1]
Last updated: 9/23/2013

References

  1. Cap myopathy. Genetics Home Reference (GHR). April 2012; http://ghr.nlm.nih.gov/condition/cap-myopathy. Accessed 9/23/2013.
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Basic Information

  • Genetics Home Reference contains information on Cap myopathy. This website is maintained by the National Library of Medicine.

In Depth Information

  • Orphanet is a European reference portal for¬†information on rare diseases and orphan drugs.¬† Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cap myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cap disease
  • Congenital myopathy with caps
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.