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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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory