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Metadata
ID DOID:0050529
Name adult spinal muscular atrophy
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.
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
Xrefs

ICD10CM:G12.1

MESH:C563948

MIM:271150

ORDO:83420

UMLS_CUI:C1838230

Subsets

DO_rare_slim

Synonyms

SMA4 [EXACT]

spinal muscular atrophy 4 [EXACT]

SPINAL MUSCULAR ATROPHY, ADULT FORM [EXACT]

SPINAL MUSCULAR ATROPHY, TYPE IV [EXACT]

Parent Relationships

is_a spinal muscular atrophy

is_a autosomal recessive disease

Subclass Logical Relationships

has symptom some progressive weakness

existence starts during some Adult onset

has material basis in some autosomal recessive inheritance

has symptom some muscle weakness

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