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Paramyotonia congenita/myotonia congenita

MedGen UID:
865305
Concept ID:
C4016868
Congenital Abnormality
Synonym: PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
 
OMIM®: 603967

Professional guidelines

PubMed

Miller TM
Muscle Nerve 2008 Mar;37(3):293-9. doi: 10.1002/mus.20923. PMID: 18067134

Recent clinical studies

Etiology

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
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
Wan Y, Zhou C, Chang X, Wu L, Zheng Y, Yu J, Bai L, Luan M, Yu M, Wang Q, Zhang W, Yuan Y, Deng J, Wang Z
J Med Genet 2024 Jun 20;61(7):626-632. doi: 10.1136/jmg-2023-109786. PMID: 38413182
Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R
Brain 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. PMID: 34529042Free 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

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
Yanagita Y, Shikino K, Ikusaka M
BMJ Case Rep 2021 May 6;14(5) doi: 10.1136/bcr-2020-240779. PMID: 33958356Free 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
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Glasberg MR
Neurosurgery 1979 Dec;5(6):747-58. doi: 10.1227/00006123-197912000-00017. PMID: 392333

Therapy

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM
Muscle Nerve 2020 Oct;62(4):430-444. Epub 2020 May 27 doi: 10.1002/mus.26887. PMID: 32270509Free PMC Article
Finkel MJ
Clin Ther 1984;6(5):577-91. PMID: 6383610
Buchthal F
Muscle Nerve 1982;5(9S):S52-9. PMID: 6763149
Marmer MJ
Anesth Analg 1969 Jul-Aug;48(4):612-6. PMID: 4307407

Prognosis

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R
Genes (Basel) 2023 Jun 28;14(7) doi: 10.3390/genes14071363. PMID: 37510268Free PMC Article
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F
Cells 2021 Feb 11;10(2) doi: 10.3390/cells10020374. PMID: 33670307Free PMC Article
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, Laing NG
F1000Res 2018;7 Epub 2018 Dec 11 doi: 10.12688/f1000research.16422.1. PMID: 30631434Free PMC Article
Streib EW
Muscle Nerve 1987 Sep;10(7):603-15. doi: 10.1002/mus.880100704. PMID: 3309651

Clinical prediction guides

Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Öz Tunçer G, Sanri A, Aydin S, Hergüner ÖM, Özgün N, Kömür M, İçağasioğlu DF, Toker RT, Yilmaz S, Arslan EA, Güngör M, Kutluk G, Erol İ, Mert GG, Polat BG, Aksoy A
J Neuromuscul Dis 2023;10(5):915-924. doi: 10.3233/JND-230046. PMID: 37355912Free PMC Article
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X
Channels (Austin) 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. PMID: 35170402Free PMC Article
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F
Cells 2021 Feb 11;10(2) doi: 10.3390/cells10020374. PMID: 33670307Free PMC Article
Schirwani S, Sarkozy A, Phadke R, Childs AM, Mein R, Ismail A, Smith A, Muntoni F, Hobson E, Pysden K
Neuromuscul Disord 2021 Apr;31(4):359-366. Epub 2020 Oct 3 doi: 10.1016/j.nmd.2020.09.033. PMID: 33558124

Recent systematic reviews

Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R
Genes (Basel) 2023 Jun 28;14(7) doi: 10.3390/genes14071363. PMID: 37510268Free PMC Article
Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

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