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Diseases

Genetic and Rare Diseases Information Center (GARD)

Inclusion body myopathy 2


Other Names for this Disease
  • IBM2
  • Inclusion body myopathy, autosomal recessive
  • Inclusion body myopathy, quadriceps-sparing
  • QSM
  • Hereditary inclusion body 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.

Overview

Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time.[1] Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance.[2] Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner.[1] Treatment is focused on managing individual symptoms.[3]
Last updated: 1/13/2014

References

  1. Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.
  2. About HIBM. Neuromuscular Disease Foundation. http://www.ndf-hibm.org/index.php/about-hibm. Accessed 12/4/2012.
  3. O'Ferrall E, Sinnreich M. GNE-Related Myopathy. GeneReviews. August 2009; http://www.ncbi.nlm.nih.gov/books/NBK1262/. Accessed 12/4/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Inclusion body myopathy 2. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
    The Online Mendelian Inheritance in Man (OMIM)
    The Online Mendelian Inheritance in Man (OMIM)
  • 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 Inclusion body myopathy 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • IBM2
  • Inclusion body myopathy, autosomal recessive
  • Inclusion body myopathy, quadriceps-sparing
  • QSM
  • Hereditary inclusion body 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.