Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Findings
No curated finding names Emery-Dreifuss muscular dystrophy 2, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
Definition from the Mondo Disease Ontology (MONDO:0021569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Neonatal onset · Slowly progressive · Young adult onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
50 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.
- Difficulty climbing stairsHPOHP:0003551
- 3 of 3 reported patients
- Difficulty runningHPOHP:0009046
- 7 of 7 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 13 of 13 reported patients
- Exertional dyspneaHPOHP:0002875
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 7 of 7 reported patients
- First degree atrioventricular blockHPOHP:0011705
- 1 of 1 reported patient
- Foot dorsiflexor weaknessHPO
Show the remaining 38
- Limb-girdle muscle weaknessHPOHP:0003325
- 1 of 1 reported patient
- Peroneal muscle atrophyHPOHP:0009049
- 1 of 1 reported patient
- Peroneal muscle weaknessHPOHP:0011727
- 1 of 1 reported patient
- Reduced left ventricular ejection fractionHPOHP:0012664
- 1 of 1 reported patient
- SyncopeHPOHP:0001279
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 5 of 5 reported patients
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
- Definitive · Ambry Genetics · Semidominant · 2017
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
8 names
Resolves to: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Also called
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNAEDMD2Hauptmann-Thannhauser muscular dystrophyLGMD1Blimb-girdle muscular dystrophy due to lamin A/C deficiencyLMNA autosomal dominant limb-girdle muscular dystrophymuscular dystrophy, limb-girdle type 1Bproximal muscular dystrophy type 1B