autosomal dominant adult-onset proximal spinal muscular atrophy (DOID:0111194)
Alliance: disease page
Synonyms: autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; Finkel disease; Finkel late-adult type SMA; SMAFK
Alt IDs: OMIM:182980, ORDO:209335
Definition: 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.