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Hypokalemic periodic paralysis(HOKPP)

MedGen UID:
116058
Concept ID:
C0238358
Disease or Syndrome
Synonym: HOKPP
SNOMED CT: Familial hypokalemic periodic paralysis (82732003); Hypokalemic periodic paralysis (82732003); HOKPP - hypokalemic periodic paralysis (82732003); Periodic paralysis I (82732003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: SCN4A, CACNA1S
 
Monarch Initiative: MONDO:0008223
Orphanet: ORPHA681

Disease characteristics

Excerpted from the GeneReview: Hypokalemic Periodic Paralysis
Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP. [from GeneReviews]
Authors:
Frank Weber  |  Frank Lehmann-Horn   view full author information

Additional descriptions

From OMIM
There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, 188580), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).  http://www.omim.org/entry/170400
From MedlinePlus Genetics
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, some develop persistent muscle weakness later in life.

People with hypokalemic periodic paralysis typically have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.  https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis

Professional guidelines

PubMed

Sung CC, Cheng CJ, Lo YF, Lin MS, Yang SS, Hsu YC, Lin SH
Am J Med Sci 2012 Apr;343(4):281-5. doi: 10.1097/MAJ.0b013e31822b430c. PMID: 21841462
Alkaabi JM, Mushtaq A, Al-Maskari FN, Moussa NA, Gariballa S
Eur J Emerg Med 2010 Feb;17(1):45-7. doi: 10.1097/mej.0b013e32832d6436. PMID: 20201128
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068

Recent clinical studies

Etiology

Holm-Yildiz S, Krag T, Witting N, Pedersen BS, Dysgaard T, Sloth L, Pedersen J, Kjær R, Kannuberg L, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Vissing J
J Neurol 2023 Dec;270(12):6057-6063. Epub 2023 Sep 1 doi: 10.1007/s00415-023-11964-z. PMID: 37656291Free PMC Article
Vivekanandam V, Munot P, Hanna MG, Matthews E
Neurol Clin 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. PMID: 32703462
Fialho D, Griggs RC, Matthews E
Handb Clin Neurol 2018;148:505-520. doi: 10.1016/B978-0-444-64076-5.00032-6. PMID: 29478596
Singhai P, Krishnan S, Patil VU
J Assoc Physicians India 2017 Nov;65(11):98-99. PMID: 29322723
Lin SH
Mayo Clin Proc 2005 Jan;80(1):99-105. doi: 10.1016/S0025-6196(11)62965-0. PMID: 15667036

Diagnosis

Vivekanandam V, Jayaseelan D, Hanna MG
Handb Clin Neurol 2023;195:521-532. doi: 10.1016/B978-0-323-98818-6.00006-6. PMID: 37562884
Vivekanandam V, Munot P, Hanna MG, Matthews E
Neurol Clin 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003. PMID: 32703462
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Stapleton LJ
Scott Med J 2018 Feb;63(1):28-31. Epub 2017 Aug 25 doi: 10.1177/0036933017727420. PMID: 28841083
Fontaine B
Adv Genet 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8. PMID: 19185183

Therapy

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Stapleton LJ
Scott Med J 2018 Feb;63(1):28-31. Epub 2017 Aug 25 doi: 10.1177/0036933017727420. PMID: 28841083
Singhai P, Krishnan S, Patil VU
J Assoc Physicians India 2017 Nov;65(11):98-99. PMID: 29322723
Tariq M, Peshin R, Ellis O, Grover K
BMJ Case Rep 2015 Jan 7;2015 doi: 10.1136/bcr-2014-206872. PMID: 25566931Free PMC Article
Alkaabi JM, Mushtaq A, Al-Maskari FN, Moussa NA, Gariballa S
Eur J Emerg Med 2010 Feb;17(1):45-7. doi: 10.1097/mej.0b013e32832d6436. PMID: 20201128

Prognosis

Holm-Yildiz S, Krag T, Witting N, Pedersen BS, Dysgaard T, Sloth L, Pedersen J, Kjær R, Kannuberg L, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Vissing J
J Neurol 2023 Dec;270(12):6057-6063. Epub 2023 Sep 1 doi: 10.1007/s00415-023-11964-z. PMID: 37656291Free PMC Article
Chaudhry MA, Wayangankar S
Curr Rheumatol Rev 2016;12(3):190-194. doi: 10.2174/1573397112666160404124822. PMID: 27041083
Lin SH, Huang CL
J Am Soc Nephrol 2012 Jun;23(6):985-8. Epub 2012 Mar 29 doi: 10.1681/ASN.2012010046. PMID: 22460532Free PMC Article
Matthews E, Portaro S, Ke Q, Sud R, Haworth A, Davis MB, Griggs RC, Hanna MG
Neurology 2011 Nov 29;77(22):1960-4. Epub 2011 Nov 16 doi: 10.1212/WNL.0b013e31823a0cb6. PMID: 22094484Free PMC Article
Mohammadianpanah M, Omidvari S, Mosalaei A, Ahmadloo N
Clin Ther 2004 Aug;26(8):1320-3. doi: 10.1016/s0149-2918(04)80177-2. PMID: 15476912

Clinical prediction guides

Holm-Yildiz S, Krag T, Witting N, Pedersen BS, Dysgaard T, Sloth L, Pedersen J, Kjær R, Kannuberg L, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Vissing J
J Neurol 2023 Dec;270(12):6057-6063. Epub 2023 Sep 1 doi: 10.1007/s00415-023-11964-z. PMID: 37656291Free PMC Article
Vivekanandam V, Suetterlin K, Matthews E, Thornton J, Jayaseelan D, Shah S, Morrow JM, Yousry T, Hanna MG
Muscle Nerve 2023 Oct;68(4):439-450. Epub 2023 Jul 28 doi: 10.1002/mus.27947. PMID: 37515374
Mintz M, Badner V, Feldman LK, Mintz P, Saraghi M, Diaz J, Mezhebovsky I, Axelrod I, Gleeson J, Liu C, Smith C, Chow H, Zurakowski D, Segal MM
Psychopharmacol Bull 2022 Jun 27;52(3):20-30. PMID: 35815177Free PMC Article
Hiraga A, Kamitsukasa I, Kojima K, Kuwabara S
J Neurol Sci 2012 Feb 15;313(1-2):42-5. Epub 2011 Oct 13 doi: 10.1016/j.jns.2011.09.034. PMID: 22000401
Lehmann-Horn F, Jurkat-Rott K, Rüdel R
Curr Neurol Neurosci Rep 2002 Jan;2(1):61-9. doi: 10.1007/s11910-002-0055-9. PMID: 11898585

Recent systematic reviews

Desaphy JF, Altamura C, Vicart S, Fontaine B
J Neuromuscul Dis 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393Free PMC Article
Ignacio KHD, Bagnas MAC, Espiritu AI, Reyes JPBT
J Clin Neurosci 2019 Dec;70:254-257. Epub 2019 Aug 19 doi: 10.1016/j.jocn.2019.08.063. PMID: 31439490
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
Cochrane Database Syst Rev 2008 Jan 23;(1):CD005045. doi: 10.1002/14651858.CD005045.pub2. PMID: 18254068

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