intermediate spinal muscular atrophy

Term ID

DOID:0050530

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. https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2

References

• MESH:D014897
• MIM:253550
• NCI:C156310
• SNOMEDCT_US_2023_03_01:128212001
• UMLS_CUI:C0393538

Ontology

Human Disease   ( DOID:0050530 )