DISEASES

Disease-gene associations mined from literature

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 ...