GNE
Description
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM) with GNE mutation, is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is caused by mutations in the GNE gene, which encodes for an enzyme essential for the biosynthesis of sialic acid, a sugar molecule crucial for the proper functioning of muscles. The disease typically manifests in adulthood, with symptoms ranging from mild to severe, and often involves the muscles of the lower limbs, leading to difficulty walking and other mobility issues.
Associated Diseases
Did you know?
GNE myopathy is a rare disease affecting approximately 1 in 100,000 individuals worldwide.
