Myotonia congenita, autosomal recessive

Preferred Label : Myotonia congenita, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myotonia, generalized; Becker disease;

Description : Autosomal recessive myotonia congenita is a nondystrophic 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 (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, 118425.0001);

Prefixed ID : #255700;

Details

Origin ID

255700;

UMLS CUI

C0751360;

Automatic exact mappings (from CISMeF team)
- Becker muscular dystrophy (disorder) [SNOMED CT concept]
- becker generalized myotonia [MeSH concept]
- endomyocardial fibrosis [DO Concept]
- myotonia congenita [MeSH Descriptor]
- myotonia congenita [MeSH concept]
DO Cross reference
- myotonia congenita [DO Concept]
Genes related to phenotype
- Chloride channel 1, skeletal muscle [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Delayed relaxation of muscle fibers after contraction [HPO term]
- Dysphagia [HPO term]
- EMG: myotonic runs [HPO term]
- Lid lag on downgaze [HPO term]
- Muscle hypertrophy of the lower extremities [HPO term]
- Muscle stiffness [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Myotonia [HPO term]
- Myotonia is most pronounced in the extremities [HPO term]
- Myotonia with warm-up phenomenon [HPO term]
- Percussion myotonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
ORDO concept(s)
- Thomsen and Becker disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myotonia, autosomal recessive form (disorder) [SNOMED CT concept]
- becker generalized myotonia [MeSH concept]
- congenital myotonia, autosomal recessive form [SNOMED Notion]
Validated automatic mappings to BTNT
- Thomsen and Becker disease [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients