Postsynaptic Congenital Myasthenic Syndromes

Clinical Features

Top most frequent phenotypes and symptoms related to Postsynaptic Congenital Myasthenic Syndromes

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy
  • Respiratory failure
  • Facial palsy
  • Abnormality of eye movement
  • Cyanosis
  • Diplopia

And another 27 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Researches and researchers

Doctors, researchs, and experts related to Postsynaptic Congenital Myasthenic Syndromes extracted from public data.

Postsynaptic Congenital Myasthenic Syndromes Experts map



Current Researchs and researchers

  • ANTWERPEN — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Study on the role of LRP4 in the regulation of Wnt signaling and bone formation.


  • ANTWERPEN-EDEGEM — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Study on the role of LRP4 in the regulation of Wnt signaling and bone formation.


Postsynaptic Congenital Myasthenic Syndromes 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
9 %
Early Onset Myotonia Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CLCN1, DMPK
Specificity
34 %
Genes
9 %
Myotonic Syndrome Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1
Specificity
15 %
Genes
9 %
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CACNA1S, KCNJ2
Specificity
34 %
Genes
9 %
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
70 %
Genes
75 %
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
6 %
Genes
67 %
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
9 %
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
9 %

You can get up to 283 more panels with our dedicated tool

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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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