Term Name: | autosomal dominant adult-onset proximal spinal muscular atrophy |
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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 ) |