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DOID:0111194 - autosomal dominant adult-onset proximal spinal muscular atrophy
Disease Ontology 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.
Synonyms: autosomal dominant adult-onset proximal SMA, autosomal dominant adult proximal spinal muscular atrophy, autosomal dominant late-onset spinal muscular atrophy, Finkel type, Finkel disease, Finkel late-adult type SMA, SMAFK
Xenbase Genes
:
vapb
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spinal muscular atrophy (is_a)