congenital muscular dystrophy due to LMNA mutation
Findings
No curated finding names congenital muscular dystrophy due to LMNA mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
Definition from the Mondo Disease Ontology (MONDO:0013178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
43 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.
- Axial muscle weaknessHPOHP:0003327
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to roll overHPOHP:0032989
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 10 of 10 reported patients
- Distal muscle weaknessHPOHP:0002460
- 11 of 11 reported patients
- HypotoniaHPOHP:0001252
- 21 of 21 reported patients
- 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.
- LMNAHGNC:6636
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: congenital muscular dystrophy due to LMNA mutation
- Also called
- congenital muscular dystrophy caused by mutation in LMNAL-CMDLMNA congenital muscular dystrophyLMNA-related congenital muscular dystrophymuscular dystrophy Congenital, LMNA-relatedmuscular dystrophy, congenital