Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111194 )
Relationships
is a type of
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Genes Involved
Zebrafish Models