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Paramyotonia congenita/hyperkalemic periodic paralysis

MedGen UID:
349048
Concept ID:
C1858891
Finding
Synonym: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
 
OMIM®: 603967

Professional guidelines

PubMed

Miller TM
Muscle Nerve 2008 Mar;37(3):293-9. doi: 10.1002/mus.20923. PMID: 18067134
Jurkat-Rott K, Lehmann-Horn F
Neurotherapeutics 2007 Apr;4(2):216-24. doi: 10.1016/j.nurt.2007.02.001. PMID: 17395131
Rüdel R, Ricker K, Lehmann-Horn F
Arch Neurol 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011. PMID: 8215982

Recent clinical studies

Etiology

Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
Abraham A, Breiner A, Barnett C, Bril V, Katzberg HD
Muscle Nerve 2018 Jan;57(1):146-149. Epub 2017 Jul 31 doi: 10.1002/mus.25714. PMID: 28561926
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900

Diagnosis

Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
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
Hehir MK, Logigian EL
Phys Med Rehabil Clin N Am 2013 Feb;24(1):209-20. Epub 2012 Oct 16 doi: 10.1016/j.pmr.2012.08.015. PMID: 23177040
Saperstein DS
Semin Neurol 2008 Apr;28(2):260-9. doi: 10.1055/s-2008-1062262. PMID: 18351527
Heatwole CR, Moxley RT 3rd
Neurotherapeutics 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. PMID: 17395134

Therapy

Sansone VA, Johnson NE, Hanna MG, Ciafaloni E, Statland JM, Shieh PB, Cohen F, Griggs RC
Muscle Nerve 2021 Sep;64(3):342-346. Epub 2021 Jul 9 doi: 10.1002/mus.27354. PMID: 34129236Free PMC Article
Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F
Pflugers Arch 2010 Jul;460(2):239-48. Epub 2010 Mar 17 doi: 10.1007/s00424-010-0814-4. PMID: 20237798Free PMC Article
Weber MA, Nielles-Vallespin S, Essig M, Jurkat-Rott K, Kauczor HU, Lehmann-Horn F
Neurology 2006 Oct 10;67(7):1151-8. Epub 2006 Aug 23 doi: 10.1212/01.wnl.0000233841.75824.0f. PMID: 16931510
Meola G, Sansone V
Neurol Sci 2000;21(5 Suppl):S953-61. doi: 10.1007/s100720070009. PMID: 11382195
Izumi Y, Fukuuchi Y, Koto A, Nakajima S
Keio J Med 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. PMID: 8089960

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. PMID: 25707578Free PMC Article
Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C
Am J Med Genet A 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. PMID: 18203179
Meola G, Sansone V, Rotondo G, Mancinelli E
Eur J Histochem 2003;47(1):17-28. doi: 10.4081/803. PMID: 12685554
Desaphy JF, Pierno S, De Luca A, Didonna P, Camerino DC
Mol Pharmacol 2003 Mar;63(3):659-70. doi: 10.1124/mol.63.3.659. PMID: 12606775
Rüdel R, Ricker K, Lehmann-Horn F
Arch Neurol 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011. PMID: 8215982

Clinical prediction guides

Abraham A, Breiner A, Barnett C, Bril V, Katzberg HD
Muscle Nerve 2018 Jan;57(1):146-149. Epub 2017 Jul 31 doi: 10.1002/mus.25714. PMID: 28561926
Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG
Neurology 2013 Apr 16;80(16):1472-5. Epub 2013 Mar 20 doi: 10.1212/WNL.0b013e31828cf8d0. PMID: 23516313Free PMC Article
Rosenbaum HK, Miller JD
Anesthesiol Clin North Am 2002 Sep;20(3):623-664. doi: 10.1016/s0889-8537(02)00011-1. PMID: 12298310
Izumi Y, Fukuuchi Y, Koto A, Nakajima S
Keio J Med 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. PMID: 8089960
Rüdel R, Ricker K, Lehmann-Horn F
Arch Neurol 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011. PMID: 8215982

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

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