Hypokalemic Periodic Paralysis

Description

Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypokalemic Periodic Paralysis

  • Paralysis
  • EMG abnormality
  • Myotonia
  • Mildly elevated creatine phosphokinase
  • Adrenocortical adenoma
  • Abnormality of muscle fibers
  • Postprandial hyperglycemia
  • Impaired myocardial contractility
  • Periodic hypokalemic paresis
  • Increased intramyocellular lipid droplets

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HYPOKALEMIC PERIODIC PARALYSIS have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hypokalemic Periodic Paralysis Is also known as westphall disease.

Researches and researchers

Doctors, researchs, and experts related to Hypokalemic Periodic Paralysis extracted from public data.

Hypokalemic Periodic Paralysis Experts map



Current Researchs and researchers

  • PARIS — Dr Sophie NICOLE

    Investigator of research project - Contact person of biobank/collection

    • Institution/s:
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
      — Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Search for a new gene responsible for periodic paralysis by whole exome analysis of one family and sporadic cases


  • 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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Hypokalemic Periodic Paralysis 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
34 %
Early Onset Myotonia Evaluation.

By Athena Diagnostics Inc (United States).

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

By Athena Diagnostics Inc (United States).

SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1
Specificity
15 %
Genes
34 %
Periodic Paralysis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CACNA1S, KCNJ2
Specificity
67 %
Genes
67 %
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
34 %
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
2 %
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
34 %
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
34 %

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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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