What is GNE Myopathy?
GNE Myopathy is a rare, inherited disease that causes progressive muscle weakness. The disease is caused by defects of the GNE gene. In this disorder the defect of the GNE enzyme disrupts the functioning of the sialic acid metabolic pathway, and interferes with normal muscle function.
GNE Myopathy typically affects young adults. One of the first signs of the disease includes inability to lift the front of the foot (foot drop). This may cause toes to drag while walking. As the disease progresses, it usually leads to physical disability. GNE Myopathy does not affect the muscles of the face, or swallowing ability. It does not typically affect the heart or breathing muscles.
GNE Myopathy is a rare disease estimated to affect around 6 in 1,000,000 people. It is found in populations worldwide but is more common in certain populations. Like many other rare diseases, GNE Myopathy is under diagnosed and many people with the disease remain undiagnosed.
GNE Myopathy has also been known as HIBM (Hereditary Inclusion Body Myopathy), Nonaka Myopathy, Distal Myopathy with Rimmed Vacuoles, Inclusion Body Myopathy 2 (IBM 2), and Quadriceps-Sparing Myopathy. To facilitate diagnosis, GNE myopathy is the preferred name.
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