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autosomal dominant adult-onset proximal spinal muscular atrophy
Summary
- Synonym
-
- 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
- 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.
- Super Class
- spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111194
- Mondo Disease Ontology
- ORDO
- OMIM
