MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: THD MYOTONIA LEVIOR, INCLUDED
THOMSEN DISEASE
Number of Symptoms 14
OrphanetNr:
OMIM Id: 160800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001252) Muscular hypotonia 990 / 7739
2
(HPO:0010548) Percussion myotonia 5 / 7739
3
(HPO:0002486) Myotonia 29 / 7739
4
(HPO:0003326) Myalgia 143 / 7739
5
(HPO:0003552) Muscle stiffness 23 / 7739
6
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(OMIM) EMG shows spontaneous, repetitive electrical activity ('myotonic runs') 2 / 7739
9
(OMIM) Myotonia is most pronounced in the extremities 2 / 7739
10
(MedDRA:10024443) Lid lag 2 / 7739
11
(OMIM) Tongue myotonia 2 / 7739
12
(OMIM) Myotonia improves with continued activity ('warm-up phenomenon') 2 / 7739
13
(OMIM) Eyelid myotonia 2 / 7739
14
(OMIM) Handgrip myotonia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than ...
Clinical Description OMIM Myotonia congenita was first described by the Danish physician Julius Thomsen (1876) in his own family. A follow-up report (Thomasen, 1948) identified 64 affected persons in 7 consecutive generations. The pedigree of Birt (1908), who, like Thomsen, was ...
Molecular genetics OMIM In affected members of 3 unrelated families with autosomal dominant myotonia congenita, George et al. (1993) identified a heterozygous mutation in the CLCN1 gene (G230E; 118425.0002). The findings indicated that Thomsen disease and Becker disease are allelic. ...
Population genetics OMIM Sun et al. (2001) stated that the worldwide prevalence of myotonic congenita, both dominant and recessive forms, is 1:100,000. In the northern Norwegian population, Sun et al. (2001) found a prevalence of about 9:100,000, which was comparable to ...