Emery-Dreifuss muscular dystrophy (EDMD) is a rare, genetically diverse muscle disorder characterized by a distinct clinical presentation. It is associated with mutations in several genes, many of which encode proteins of the nuclear envelope.
Clinical Features
- Age of Onset: Symptoms typically appear between 2–15 years but can manifest later.
- Muscle Weakness:
- Slowly progressive humeroperoneal muscle weakness (biceps, triceps, and peroneal muscles).
- Early signs include ankle and elbow contractures and spinal rigidity.
- Muscle weakness progresses slowly, with foot drop and eventual non-ambulance in 10% of patients by the third to fifth decades.