Emery-Dreifuss muscular dystrophy

MONDO:0016830

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

Also known as: EDMD, Emery Dreifuss Muscular Dystrophy, Emery-Dreifuss muscular dystrophy, Humeroperoneal neuromuscular disease, (formerly), scapuloperoneal syndrome, X-linked (formerly)

16 clinical trials for this condition and its sub-types, 1 tagged with Emery-Dreifuss muscular dystrophy itself.

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Where it sits in the disease tree

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↑ Progressive muscular dystrophy (124) ↑ Familial dilated cardiomyopathy (60)

Sub-types of Emery-Dreifuss muscular dystrophy

Autosomal dominant Emery-Dreifuss muscular dystrophy 0 trials · 3 incl. sub-types
4 sub-types
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant 3 trials
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 trials
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 trials
Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 trials
X-linked Emery-Dreifuss muscular dystrophy 0 trials
3 sub-types
- Emery-Dreifuss muscular dystrophy 1, X-linked 0 trials
- Emery-Dreifuss muscular dystrophy 6, X-linked 0 trials
- X-linked myopathy with postural muscle atrophy 0 trials
Scapuloperoneal myopathy 0 trials
2 sub-types
- X-linked scapuloperoneal muscular dystrophy 0 trials
- Congenital myopathy 7A, myosin storage, autosomal dominant 0 trials

Including sub-types (16) Tagged with Emery-Dreifuss muscular dystrophy (1)

Trials to join now! 1

Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others

Knowledge-focused Recruiting now

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:10 UTC

Emery-Dreifuss muscular dystrophy

Where it sits in the disease tree

Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others