Term Name: | intermediate spinal muscular atrophy |
---|---|
Synonyms: | MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM, MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE, SMA II, SMA2, spinal muscular atrophy 2, spinal muscular atrophy type II |
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. |
Ontology: | Human Disease [DOID:0050530] ( DOID:0050530 ) |