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Hyperkalemic Periodic Paralysis Type 1(HYPP)

MedGen UID:
442147
Concept ID:
CN074266
Disease or Syndrome
Synonyms: ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; GAMSTORP DISEASE; HYPERKALEMIC PERIODIC PARALYSIS; HYPP
 
Gene (location): SCN4A (17q23.3)
OMIM®: 170500

Disease characteristics

Excerpted from the GeneReview: Hyperkalemic Periodic Paralysis
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. Although the absence of paramyotonia (muscle stiffness aggravated by cold and exercise) was originally postulated as a means of distinguishing hyperPP from paramyotonia congenita (PMC), approximately 45% of individuals with hyperPP have paramyotonia. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. Potassium-rich food or rest after exercise may precipitate an attack. A cold environment and emotional stress provoke or worsen the attacks. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then disappears. Cardiac arrhythmia or respiratory insufficiency usually does not occur during attacks. Between attacks, approximately half of individuals with hyperPP have mild myotonia (muscle stiffness) that does not impede voluntary movements. More than 80% of individuals with hyperPP older than 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy. [from GeneReviews]
Authors:
Frank Weber  |  Karin Jurkat-Rott  |  Frank Lehmann-Horn   view full author information

Additional descriptions

From OMIM
The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000). Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.  http://www.omim.org/entry/170500
From GHR
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. Factors that can trigger attacks include rest after exercise, potassium-rich foods such as bananas and potatoes, stress, fatigue, alcohol, pregnancy, exposure to 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.  http://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis

Professional guidelines

PubMed

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T; EFNS
Eur J Neurol 2010 May;17(5):641-8. Epub 2010 Mar 9 doi: 10.1111/j.1468-1331.2010.02985.x. [Epub ahead of print] PMID: 20298421

Recent clinical studies

Etiology

Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. PMID: 11216900
Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N
Am J Hum Genet 1995 Feb;56(2):374-80. PMID: 7847370Free PMC Article

Diagnosis

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA
Ann Neurol 2015 May;77(5):840-50. Epub 2015 Mar 27 doi: 10.1002/ana.24389. [Epub ahead of print] PMID: 25707578Free PMC Article
Lucas B, Ammar T, Khogali S, DeJong D, Barbalinardo M, Nishi C, Hayward LJ, Renaud JM
Physiol Genomics 2014 Jun 1;46(11):385-97. Epub 2014 Apr 8 doi: 10.1152/physiolgenomics.00166.2013. [Epub ahead of print] PMID: 24714718
Ko WJ, Kim KY, Kim SM, Hong SJ, Lee SH, Song R, Yang HI, Lee YA
J Korean Med Sci 2013 Jul;28(7):1111-3. Epub 2013 Jul 3 doi: 10.3346/jkms.2013.28.7.1111. PMID: 23853500Free PMC Article
Heatwole CR, Moxley RT 3rd
Neurotherapeutics 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. PMID: 17395134
Meola G, Sansone V, Rotondo G, Mancinelli E
Eur J Histochem 2003;47(1):17-28. PMID: 12685554

Prognosis

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA
Ann Neurol 2015 May;77(5):840-50. Epub 2015 Mar 27 doi: 10.1002/ana.24389. [Epub ahead of print] PMID: 25707578Free PMC Article
Meola G, Sansone V, Rotondo G, Mancinelli E
Eur J Histochem 2003;47(1):17-28. PMID: 12685554
Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F
Neurology 1997 Oct;49(4):1018-25. PMID: 9339683

Clinical prediction guides

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA
Ann Neurol 2015 May;77(5):840-50. Epub 2015 Mar 27 doi: 10.1002/ana.24389. [Epub ahead of print] PMID: 25707578Free PMC Article
Lucas B, Ammar T, Khogali S, DeJong D, Barbalinardo M, Nishi C, Hayward LJ, Renaud JM
Physiol Genomics 2014 Jun 1;46(11):385-97. Epub 2014 Apr 8 doi: 10.1152/physiolgenomics.00166.2013. [Epub ahead of print] PMID: 24714718
Lossin C, Nam TS, Shahangian S, Rogawski MA, Choi SY, Kim MK, Sunwoo IN
Neurology 2012 Sep 4;79(10):1033-40. Epub 2012 Aug 22 doi: 10.1212/WNL.0b013e3182684683. [Epub ahead of print] PMID: 22914841
Weckbecker K, Würz A, Mohammadi B, Mansuroglu T, George AL Jr, Lerche H, Dengler R, Lehmann-Horn F, Mitrovic N
Neuromuscul Disord 2000 Jan;10(1):31-9. PMID: 10677861
Rojas CV, Neely A, Velasco-Loyden G, Palma V, Kukuljan M
Am J Physiol 1999 Jan;276(1 Pt 1):C259-66. PMID: 9886942

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