Thomsen And Becker Disease

Description

Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

Clinical Features

Phenotypes and symptoms related to Thomsen And Becker Disease

  • EMG abnormality
  • Myotonia

Incidence and onset information

— Based on the latest data available THOMSEN AND BECKER DISEASE have a estimated prevalence of 1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Thomsen And Becker Disease Is also known as myotonia congenita.

Researches and researchers

Doctors, researchs, and experts related to Thomsen And Becker Disease extracted from public data.

Thomsen And Becker Disease Experts map



Current Researchs and researchers

  • LEIDEN — Dr J.A.H. [Just] EEKHOF

    Investigator of research project

    • Institution/s:
      — LUMC - Leids Universitair Medisch Centrum
    • Research area/topic::

      GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.


  • UTRECHT — Ms F. [Femke] SEESING

    Investigator of research project

    • Institution/s:
      — Piet van Dommelenhuis
    • Research area/topic::

      GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.



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Thomsen And Becker Disease 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.

ORPHANET Rare Disease Search Engine

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