Conditions / Genetic
Becker disease
info · Genetic
A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel
A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
Signs and symptoms
- EMG: myotonic runs
- Myotonia
- Myotonia with warm-up phenomenon
- Muscle weakness
- Percussion myotonia
- Muscle stiffness
- Skeletal muscle hypertrophy
- Myopathy
- Abnormality of the nervous system
- Dysphagia