Disease - Spinal muscular atrophy, proximal, adult, autosomal dominant
- DefinitionA 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.
- AcronymSMAPAD
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Browse 1 entry- Vesicle-associated membrane protein-associated protein B/C · Gene: VAPB · Homo sapiens (Human) · 243 amino acids · Evidence at protein level · Annotation score: 5/5