autosomal dominant adult-onset proximal spinal muscular atrophy

Term ID

DOID:0111194

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

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. (2)

References

• OMIM:182980
• ORDO:209335

Ontology

Human Disease   ( DOID:0111194 )