proximal spinal muscular atrophy
Findings
No curated finding names proximal spinal muscular atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness 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:0019079), read 2026-09-29. CC BY 4.0.
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- Bulbar palsyHPOHP:0001283
- Frequent (30% to 79% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 38
- Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
- Intercostal muscle weaknessHPOHP:0004878
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Frequent (30% to 79% of cases)
- Recurrent aspiration pneumoniaHPOHP:0002100
- Frequent (30% to 79% of cases)
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
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: proximal spinal muscular atrophy
- Also called
- SMA