spinal muscular atrophy with respiratory distress type 2
Findings
No curated finding names spinal muscular atrophy with respiratory distress type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Definition from the Mondo Disease Ontology (MONDO:0018450), 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.
- LAS1LHGNC:25726
- Supportive · Orphanet · Unknown · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: spinal muscular atrophy with respiratory distress type 2
- Also called
- diaphragmatic spinal muscular atrophy type 2severe infantile axonal neuropathy with respiratory failure type 2SMARD2X-linked spinal muscular atrophy with respiratory distress