spinal muscle atrophy, proximal, adult, autosomal dominant
spinal muscle atrophy, proximal, adult, autosomal dominantA form (OMIM:182980) of spinal muscular atrophy, a neuromuscular disorder characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It begins after the third decade with proximal muscle weakness in the legs and then the arms, and has a benign course. Most patients remain ambulatory for decades after onset.
Caused by defects of VAPB, which encodes a membrane protein involved in vesicle trafficking.