Term Name: autosomal dominant adult-onset proximal spinal muscular atrophy
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
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.
Ontology: Human Disease [DOID:0111194]   ( DOID:0111194 )

Relationships
is a type of: spinal muscular atrophy