Inclusion body myopathy 2

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. 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.

Last updated on 05-01-20

How is inclusion body myopathy 2 inherited?

Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Last updated on 05-01-20

How might inclusion body myopathy 2 be treated?

Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2. Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.

Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here.

Last updated on 05-01-20

Name: ARM (Advancement of Research for Myopathies) P.O. Box 261926
Encino, CA, 91426-1926, United States
Phone: (800) ARM-2000 Email: http://hibm.org/arm/about_arm:contact_us Url: http://www.hibm.org/arm/home
Name: Neuromuscular Disease Foundation 269 South Beverly Drive, Suite 1206
Beverly Hills, CA, 90212 , United States
Phone: 310-736-2978 Url: https://curehibm.org/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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