Paramyotonia Congenita Of Von Eulenburg

Description

Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

Clinical Features

Top most frequent phenotypes and symptoms related to Paramyotonia Congenita Of Von Eulenburg

  • Feeding difficulties
  • Dysphagia
  • Neonatal hypotonia
  • Myalgia
  • Muscle stiffness
  • EMG: myopathic abnormalities
  • Myotonia
  • Percussion myotonia
  • Periodic hypokalemic paresis
  • Handgrip myotonia

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Paramyotonia Congenita Of Von Eulenburg Is also known as paramyotonia congenita.

Researches and researchers

Doctors, researchs, and experts related to Paramyotonia Congenita Of Von Eulenburg extracted from public data.

Paramyotonia Congenita Of Von Eulenburg Experts map



Current Researchs and researchers

  • BARI — Dr Paola IMBRICI

    Investigator of research project

    • Institution/s:
      — Dipartimento Farmaco-Biologico, Universit√† degli Studi di Bari Aldo Moro
    • Research area/topic::

      Preclinical evaluation of pharmacogenetics and new therapeutic options in nondystrophic myotonias toward personalized medicine


  • 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.



Mendelian

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Paramyotonia Congenita Of Von Eulenburg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCN4A (Myotonia) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SCN4A
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 %
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
100 %
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN
Specificity
8 %
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 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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