Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Findings
No curated finding names Emery-Dreifuss muscular dystrophy 3, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.
Definition from the Mondo Disease Ontology (MONDO:0014676), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
42 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.
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- Joint contractureHPOHP:0034392
- 1 of 1 reported patient · Adult onset
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Hyporeflexia of lower limbsHPOHP:0002600
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Achilles tendon contractureHPOHP:0001771
- Frequent (30% to 79% of cases)
- Atrioventricular blockHPOHP:0001678
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- Decreased cervical spine flexion due to contractures of posterior cervical musclesHPOHP:0004631
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- Also called
- autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNALMNA autosomal recessive Emery-Dreifuss muscular dystrophy