Emery-Dreifuss muscular dystrophy
MONDO:0016830Mondo
Findings
No curated finding names Emery-Dreifuss muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0016830), read 2026-09-29. CC BY 4.0.
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.
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Limb-girdle muscular dystrophyHPOHP:0006785
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Absent muscle fiber emerinHPOHP:0030117
- Frequent (30% to 79% of cases)
- Achilles tendon contractureHPOHP:0001771
- 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)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
Reported absent (1)
- Intellectual disabilityHPOHP:0001249
Show the remaining 31
- Elevated circulating LDL-C concentrationHPOHP:0003141
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- Proximal lower limb amyotrophyHPOHP:0008956
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Emery-Dreifuss muscular dystrophy
- Also called
- EDMDEmery Dreifuss Muscular Dystrophy