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Inclusion body myopathy 2
Other Names for this Disease
- Distal myopathy with rimmed vacuoles
- GNE myopathy
- Hereditary inclusion body myopathy
 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. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.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.
Last updated: 1/13/2014
- Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.
- About HIBM. Neuromuscular Disease Foundation. http://www.ndf-hibm.org/index.php/about-hibm. Accessed 12/4/2012.
- 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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- 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 Online Mendelian Inheritance in Man (OMIM) is an 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.
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