GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics

GNE myopathy is a rare disease, which is also known by other names like Nonaka myopathy, distal myopathy with rimmed vacuoles-DMRV, hereditary inclusion body myopathy-HIBM, Inclusion body myopathy 2-IBM2 and quadriceps sparing myopathy. It has a prevalence of 1-21/1000,000 population. [1 –5] It is an autosomal recessive disease caused by bi-allelic inheritance of variable mutations in the GNE gene on chromosome 9, encoding a bifunctional enzyme- uridine diphosphate-N-acetylglucosamine 2-epimerase /N-acetylmannosamine kinase required in sialic acid- 5-N-acetylneuraminic acid (Neu5A c) synthesis, which in turn plays a role in glycoprotein and glycolipid stability.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research