Summary Literature (0)

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: Finkel disease, Finkel late-adult type SMA, SMAFK, autosomal dominant adult proximal spinal muscular atrophy, autosomal dominant adult-onset proximal SMA, autosomal dominant late-onset spinal muscular atrophy, Finkel type,

Echinobase Genes :


OMIM:

MIM:182980 - spinal muscular atrophy, late-onset, finkel type; smafk

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee