congenital muscular dystrophy 1B
MeSH: C565748ORPHA: 98893
Overview
congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has material basis in variation in the chromosome region 1q42
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C565748Orphanet Code
ORPHA:98893congenital muscular dystrophy 1B
| MeSH | C565748 |
| Orphanet | ORPHA:98893 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO