intermediate spinal muscular atrophy (DOID:0050530)
Alliance: disease page
Synonyms: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; SMA2; SMA II; spinal muscular atrophy 2; spinal muscular atrophy type II
Alt IDs: OMIM:253550, MESH:D014897, NCI:C156310, UMLS_CUI:C0393538
Definition: A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.