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

C565748

Orphanet Code

ORPHA:98893
congenital muscular dystrophy 1B
MeSHC565748
OrphanetORPHA:98893
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO