Myotonia Congenita, Autosomal Recessive
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Myotonia Congenita, Autosomal Recessive
- Muscle weakness
- Pain
- Flexion contracture
- Fever
- Dysphagia
- Rigidity
- Myalgia
- Clumsiness
- Muscle stiffness
- Myotonia
And another 11 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Myotonia Congenita, Autosomal Recessive Is also known as becker disease, myotonia, generalized.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Myotonia Congenita, Autosomal Recessive Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 CLCN1 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
CLCN1
Specificity
100 %
Genes
100 % |
|
Early Onset Myotonia Evaluation.
By Athena Diagnostics Inc (United States).
SCN4A, CLCN1, DMPK
Specificity
34 %
Genes
100 % |
|
Myotonic Syndrome Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1
Specificity
15 %
Genes
100 % |
|
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
 CLCN1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CLCN1
Specificity
100 %
Genes
100 % |
 Myotonia congenita (deletion/duplication analysis of CLCN1 gene).
By CGC Genetics (Portugal).
CLCN1
Specificity
100 %
Genes
100 % |
|
Non-dystrophic myotonias (NGS panel for 11 genes).
By CGC Genetics (Portugal).
SCN4A, CACNA1A, CACNA1S, CAV3, CLCN1, KCNJ18, HINT1, HSPG2, KCNA1, KCNE3, ATP2A1
Specificity
10 %
Genes
100 % |
|
Myotonia congenita (sequence analysis of CLCN1 gene).
By CGC Genetics (Portugal).
CLCN1
Specificity
100 %
Genes
100 % |
You can get up to 40 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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