Definition
- Muscular dystrophy with early contractures, humeroperoneal weakness and cardiac conduction disease
Aetiology
- X linked recessive form from EMD mutation affecting emerin
- Autosomal dominant form from LMNA mutation affecting lamin A and C
Clinical Features
- Contractures of elbow, posterior neck and Achilles
- Contractures appear before significant weakness
- Rigid spine with limited neck and trunk flexion
- Slowly progressive humeroperoneal weakness
- Toe walking from Achilles contracture
- Heart block and arrhythmia
- Dilated cardiomyopathy
Investigations
- CK normal or moderately raised
- ECG and Holter monitoring
- Echocardiography
- Genetic testing
Differential Diagnosis
- Bethlem myopathy
- Becker muscular dystrophy
- Rigid spine syndrome
Management
- Heart block needs early pacemaker
- ICD for LMNA related disease given sudden death risk
- Regular cardiology review even when asymptomatic
- Stretching and splinting for contractures
- Achilles lengthening for equinus
- Spinal fusion for progressive scoliosis
- Preoperative cardiac assessment before any surgery
Complications
- Sudden cardiac death
- Recurrent contracture after release
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.