DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Hypokalemic Periodic Paralysis

MODERATE

A rare genetic disorder causing episodes of muscle weakness or paralysis triggered by low potassium levels. Episodes often occur during rest after exercise or high-carbohydrate meals. Muscles work normally between attacks. Can lead to permanent weakness over time.

Global Affected

50.0K

Countries

89

Symptoms

Muscle weakness episodes
Paralysis (temporary)
Triggered by rest after exercise
High-carbohydrate meals trigger
Cold exposure trigger
Weakness in legs > arms
Normal strength between attacks
Irregular heartbeat (some)

Treatment Options

Potassium supplements (acute)
Acetazolamide
Dichlorphenamide
Potassium-sparing diuretics
Potassium-rich diet
Avoidance of triggers
Cardiac monitoring
Physical therapy

Risk Factors

1Family history (autosomal dominant)
2CACNA1S gene mutation
3SCN4A gene mutation
4Male gender
5Age 15-35 (onset)

Diagnostic Methods

  • 1Serum potassium (during attack)
  • 2EMG
  • 3Muscle biopsy
  • 4Genetic testing (CACNA1S, SCN4A)
  • 5Exercise testing
  • 6Family history assessment

Prognosis

Good with treatment. Episodes decrease with age but fixed weakness may develop. Quality of life good with proper management. Cardiac complications in some variants.

Prevention

  • Genetic counseling
  • Avoid high-carbohydrate meals
  • Gradual exercise cool-down
  • Keep warm (avoid cold)
  • Potassium management
  • Regular monitoring

Research Status

Potassium supplementation during attacks. Acetazolamide or dichlorphenamide for prevention. Potassium-sparing diuretics. Avoidance of triggers. Cardiac monitoring important as some have arrhythmias.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoRussiaChinaIndiaSwedenNorwayFinlandNetherlandsBelgiumSwitzerlandAustriaDenmarkPolandCzech RepublicHungaryRomaniaBulgariaCroatiaSloveniaSlovakiaLTLVEEIrelandPortugalGreeceCYMTLUIcelandNew ZealandSouth KoreaTaiwanSingaporeHong KongMalaysiaThailandIndonesiaPhilippinesVietnamSouth AfricaEgyptTurkeySaudi ArabiaUAEQatarKuwaitBHOmanJordanLebanonSyriaIraqIranPakistanBangladeshLKMMKHLAMNKPUzbekistanKazakhstanKGTJTMAzerbaijanAMGEUkraineBelarusMDALBAMKMESerbiaXK

Sources

  • https://rarediseases.org/rare-diseases/hypokalemic-periodic-paralysis
  • https://www.ncbi.nlm.nih.gov/books/NBK1338
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.