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adult-onset proximal spinal muscular atrophy, autosomal dominant

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset.
Mondo Term and Equivalent IDs
MONDO:0008453:  adult-onset proximal spinal muscular atrophy, autosomal dominant
DOID:0111194: 
Orphanet:209335: 
UMLS:CN200940: