| Metadata | |
|---|---|
| ID | DOID:0111194 |
| Name | autosomal dominant adult-onset proximal spinal muscular atrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15372378, https://www.ncbi.nlm.nih.gov/pubmed/7258225 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant adult proximal spinal muscular atrophy [EXACT] autosomal dominant adult-onset proximal SMA [EXACT] autosomal dominant late-onset spinal muscular atrophy, Finkel type [EXACT] Finkel disease [EXACT] Finkel late-adult type SMA [EXACT] SMAFK [EXACT] |
| Parent Relationships |