spinal muscular atrophy, type II
MONDO:0009673Mondo
Findings
No curated finding names spinal muscular atrophy, type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Definition from the Mondo Disease Ontology (MONDO:0009673), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMN1; SMN2HGNC:11117
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: spinal muscular atrophy, type II
- Also called
- chronic infantile spinal muscular atrophychronic spinal muscular atrophyIntermediate spinal muscular atrophymuscular atrophy, spinal, infantile chronic formmuscular atrophy, spinal, intermediate typeSMA type 2SMA type IISMA-IISMA2spinal muscular atrophy-2