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Summary Literature (1)
DOID:0050529 - adult spinal muscular atrophy


Disease Ontology Definition:A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

Synonyms: SMA4, SPINAL MUSCULAR ATROPHY, ADULT FORM, SPINAL MUSCULAR ATROPHY, TYPE IV, spinal muscular atrophy 4

Xenbase Genes : smn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010056 - spinal muscular atrophy, type IV

OMIM:
OMIM:271150 - SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), childhood spinal muscular atrophy (is_a), spinal muscular atrophy (is_a)