Hyperkalemic periodic paralysis
Dernière mise à jour 22 août 2023
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Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently in many people with the condition. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to hot or cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.
Description
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until mid-adulthood, after which they occur less frequently in many people with the condition. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to hot or cold temperatures, certain medications, and periods without food (fasting). Muscle strength usually returns to normal between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.
Most people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results when the weak or paralyzed muscles release potassium ions into the bloodstream. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Adynamia episodica hereditaria
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HyperKPP
HyperPP
Primary hyperkalemic periodic paralysis
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Lectures complémentaires et références
- Hyperkalemic periodic paralysis; MedlinePlus, National Library of Medicine.
- Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord. 2002 Aug;12(6):533-43. doi: 10.1016/s0960-8966(02)00007-x.
- Fontaine B. Periodic paralysis. Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8.
- Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss of function. Pflugers Arch. 2010 Jul;460(2):239-48. doi: 10.1007/s00424-010-0814-4. Epub 2010 Mar 17.
- Jurkat-Rott K, Lehmann-Horn F. Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. Neurotherapeutics. 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001.
- Jurkat-Rott K, Lehmann-Horn F. Paroxysmal muscle weakness: the familial periodic paralyses. J Neurol. 2006 Nov;253(11):1391-8. doi: 10.1007/s00415-006-0339-0. Epub 2006 Nov 30.
- Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptacek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00.
- Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan;129(Pt 1):8-17. doi: 10.1093/brain/awh639. Epub 2005 Sep 29.
- Weber F. Hyperkalemic Periodic Paralysis. 2003 Jul 18 [updated 2021 Jul 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1496/
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