MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MYOTONIA, GENERALIZED
BECKER DISEASE
Number of Symptoms 21
OrphanetNr:
OMIM Id: 255700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002015) Dysphagia 301 / 7739
2
(HPO:0003712) Skeletal muscle hypertrophy 15/27 [HPO:probinson] 42 / 7739
3
(HPO:0010548) Percussion myotonia 26/27 [HPO:probinson] 18337100 IBIS 5 / 7739
4
(HPO:0002486) Myotonia 29 / 7739
5
(HPO:0008968) Muscle hypertrophy of the lower extremities 1 / 7739
6
(HPO:0003730) EMG: myotonic runs 2 / 7739
7
(HPO:0003326) Myalgia 11/27 [HPO:probinson] 143 / 7739
8
(HPO:0003740) Myotonia with warm-up phenomenon 27/27 [HPO:probinson] 2 / 7739
9
(HPO:0003552) Muscle stiffness 25/27 [HPO:probinson] 18337100 IBIS 23 / 7739
10
(HPO:0001324) Muscle weakness 75% [HPO:skoehler] 859 / 7739
11
(MedDRA:10024443) Lid lag 2 / 7739
12
(OMIM) Hangrip myotonia 1 / 7739
13
(OMIM) Transient muscle weakness occur in 75% of patients, particularly in the arms and hands 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Eyelid myotonia 2 / 7739
16
(HPO:0011463) Childhood onset 65 / 7739
17
(OMIM) Myotonia improves with continued activity ('warm-up phenomenon') 2 / 7739
18
(HPO:0003812) Phenotypic variability 129 / 7739
19
(OMIM) EMG shows spontaneous, repetitive electrical activity ('myotonic runs') 2 / 7739
20
(OMIM) Myotonia is most pronounced in the extremities 2 / 7739
21
(OMIM) Tongue myotonia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Te Kamp (1907) reported possible homozygosity in cases of myotonia congenita.

Becker (1966) concluded that a recessive form of myotonia congenita is more frequent and more severe than the dominant myotonia congenita of Thomsen. Segregation ratios ...

Molecular genetics OMIM In 3 brothers, born of consanguineous parents, with autosomal recessive myotonia congenita, Koch et al. (1992) identified a homozygous mutation in the CLCN1 gene (118425.0001).

In affected members of a German family with recessive myotonia, Lorenz ...

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 ...