autosomal dominant congenital benign spinal muscular atrophy
MeSH: C563981ORPHA: 1216
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant congenital benign spinal muscular atrophy, sourced from HPO and Orphanet clinical annotations.
HypotoniaJoint stiffnessDistal amyotrophyCachexiaNonprogressive muscular atrophy
Classification & Codes
MeSH Code
C563981Orphanet Code
ORPHA:1216autosomal dominant congenital benign spinal muscular atrophy
| MeSH | C563981 |
| Orphanet | ORPHA:1216 |
| Treatments | 0 drug(s) |
| Symptoms on record | 5 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO