adult spinal muscular atrophy

Term ID

DOID:0050529

Synonyms

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

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

References

• ICD10CM:G12.1
• MESH:C563948
• OMIM:271150
• ORDO:83420
• UMLS_CUI:C1838230

Ontology

Human Disease   ( DOID:0050529 )