Myotonia Congenita, Autosomal Dominant

Description

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 Becker disease.See also paramyotonia congenita (PMC ) and potassium-aggravated myotonia (OMIM ), overlapping phenotypes caused by mutations in the SCN4A gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Myotonia Congenita, Autosomal Dominant

  • Muscle weakness
  • Pain
  • Hypothyroidism
  • Myalgia
  • Paralysis
  • Muscle stiffness
  • Myotonia
  • Skeletal muscle hypertrophy
  • Percussion myotonia
  • Handgrip myotonia

And another 3 symptoms. If you need more information about this disease we can help you.

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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 Dominant Is also known as thomsen disease, thd.

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.


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Myotonia Congenita, Autosomal Dominant 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 %

We have 40 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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