Inclusion body myopathy 2

Common Name(s)

Inclusion body myopathy 2

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. 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inclusion body myopathy 2" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Inclusion body myopathy 2" returned 1 free, full-text research articles on human participants. First 3 results:

The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
 

Author(s): Stephan Hinderlich, Ilan Salama, Iris Eisenberg, Tamara Potikha, Lars R Mantey, Kevin J Yarema, RĂ¼diger Horstkorte, Zohar Argov, Menachem Sadeh, Werner Reutter, Stella Mitrani-Rosenbaum

Journal: FEBS Lett.. 2004 May;566(1-3):105-9.

 

Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder, caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid biosynthesis. In Middle Eastern patients a single homozygous mutation occurs, converting methionine-712 ...

Last Updated: 31 Dec 1969

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The terms "Inclusion body myopathy 2" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Natural History Study of Patients With GNE Myopathy
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy

 

Last Updated: 15 Sep 2018

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