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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked myopathy with excessive autophagy


Other Names for this Disease
  • XMEA
  • Myopathy, X-linked, with excessive autophagy
  • Vacuolar myopathy
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Overview

X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk as they get older, while others require assistance in adulthood. This disorder is caused by mutations in the VMA21 gene and is inherited in an X-linked recessive fashion.[1][2]

Last updated: 12/22/2015

References

  1. Myopathy, X-linked, with excessive autophagy. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/omim/310440. Accessed 6/15/2011.
  2. VMA21. Genetics Home Reference. October 4, 2011; http://ghr.nlm.nih.gov/gene/VMA21. Accessed 10/10/2011.
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Basic Information

In Depth Information

  • 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. 
  • 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 X-linked myopathy with excessive autophagy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • XMEA
  • Myopathy, X-linked, with excessive autophagy
  • Vacuolar myopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.