Metadata | |
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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 | |
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 | |
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 |