Human genes for autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant adult-onset proximal spinal muscular atrophy [DOID:0111194]
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.
Synonyms: autosomal dominant adult-onset proximal spinal muscular atrophy, autosomal dominant adultonset proximal spinal muscular atrophy, autosomal dominant adult-onset proximal spinal muscular atrophies, DOID:0111194, autosomal dominant adult-onset proximal SMA ...