OBO ID: DOID:0111194
Term Name: autosomal dominant adult-onset proximal spinal muscular atrophy Search Ontology:
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:
OTHER autosomal dominant adult-onset proximal spinal muscular atrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VAPB Spinal muscular atrophy, late-onset, Finkel type 182980
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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