Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Inclusion body myopathy 2


Other Names for this Disease

  • Distal myopathy with rimmed vacuoles
  • DMRV
  • GNE myopathy
  • Hereditary inclusion body myopathy
  • HIBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

What causes inclusion body myopathy 2?

Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2.[1][2] Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition.[1]
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.


Other Names for this Disease
  • Distal myopathy with rimmed vacuoles
  • DMRV
  • GNE myopathy
  • Hereditary inclusion body myopathy
  • HIBM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.