Introduction
Hereditary Inclusion Body Myopathy (HIBM), or GNE Myopathy, is a rare hereditary disorder that causes progressive muscle weakness. Manifestations of the disease usually become apparent between 20 and 30 years of age and slowly involve muscles of the arms and legs. Patients may require a wheelchair approximately 10-20 years after the first symptoms appear.
HIBM results from mutations in a gene called GNE, which produces the enzyme responsible for making a sugar called sialic acid. HIBM patients have lower levels of sialic acid on the surface of certain proteins. These proteins include alpha-dystroglycan and polysialic acid on neural crest adhesion molecule (PSA-NCAM); these proteins are important for muscle function. Decreased sialic acid on these proteins could be the cause of the muscle wasting in HIBM patients.
The goal of this research study is to better understand the signs, symptoms, and clinical course of HIBM and to develop better tests to measure the progression of the disease. This information will be essential in preparation for clinical treatment trials.
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