Preferred Label : Myotonia congenita, recessive;
ICD-11 definition : Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the
gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal
muscle disorder characterized by muscle stiffness and an inability of the muscle to
relax after voluntary contraction. Most patients have symptom onset in the legs, which
later progresses to the arms, neck, and facial muscles. Many patients show marked
hypertrophy of the lower limb muscles. Some patients show transient muscle weakness.;
ICD-11 synonym : Becker's disease, recessive;
ICD-11 inclusion : Chloride channel disorders, autosomal recessive inheritance;
Origin ID : 439347096;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Autosomal recessive myotonia congenita (Becker disease) is caused by mutation in the
gene encoding skeletal muscle chloride channel-1 (CLCN1). It is a non-dystrophic skeletal
muscle disorder characterized by muscle stiffness and an inability of the muscle to
relax after voluntary contraction. Most patients have symptom onset in the legs, which
later progresses to the arms, neck, and facial muscles. Many patients show marked
hypertrophy of the lower limb muscles. Some patients show transient muscle weakness.
