DISEASE SCANNER
Global Incurable Diseases Tracker
Emery-Dreifuss Muscular Dystrophy
A muscular dystrophy characterized by joint contractures (elbows, ankles, spine), slowly progressive muscle wasting and weakness, and cardiac conduction defects. X-linked (EDMD1/EMD), autosomal dominant (EDMD2/LMNA, EDMD3), and recessive forms.
80.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Variable progression. Cardiac involvement universal, requires pacemaker. Contractures develop early. Ambulation usually preserved until late adulthood. Life expectancy reduced, mainly due to cardiac complications.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Cardiac monitoring and pacemaker/ICD placement essential. Supportive care. Heart transplant for severe cardiomyopathy. No disease-modifying therapy. Sudden death prevention through cardiac management is priority.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.