congenital muscular dystrophy 1B
Findings
No curated finding names congenital muscular dystrophy 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
Definition from the Mondo Disease Ontology (MONDO:0011486), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Diaphragmatic weaknessHPOHP:0009113
- Childhood onset
- Respiratory failureHPOHP:0002878
- Childhood onset
Where it sits
- A kind of
Other names
3 names
Resolves to: congenital muscular dystrophy 1B
- Also called
- CMD1Bcongenital muscular dystrophy type 1BMDC1B