Conditions / Genetic
autosomal recessive Emery-Dreifuss muscular dystrophy 3
info · Genetic
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
Signs and symptoms
- Gait disturbance
- Joint contracture
- Loss of ambulation
- Generalized amyotrophy
- Elevated circulating creatine kinase activity
- Muscular dystrophy
- Arrhythmia
- Muscle weakness
- Elbow flexion contracture
- Hypertriglyceridemia
Also known as: EDMD3; Emery-Dreifuss muscular dystrophy 3, autosomal recessive