Hopp til hovedinnhold

Myotonier (nondystrofe)

Sist oppdatert: Sist revidert:
Sist revidert av:

  1. 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. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle Nerve 2020. pmid:32270509 PubMed  
  2. Matthews E, Holmes S, Fialho D. Skeletal muscle channelopathies: a guide to diagnosis and management. Pract Neurol. 2021 Jun;21(3):196-204. PMID: 33563766. PubMed  
  3. Vereb N, Montagnese F, Gläser D, Schoser B. Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. J Neurol. 2021 May;268(5):1708-1720. PMID: 33263785 PubMed  
  4. Heatwole CR, Statland JM, Logigian EL. The diagnosis and treatment of myotonic disorders. Muscle Nerve. 2013 May;47(5):632-48. PMID: 23536309 PubMed  
  5. Bryan ES, Alsaleem M. Myotonia Congenita. 2022 Aug 29. In: StatPearls Internet. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. PMID: 32966006. PubMed  
  6. Jitpimolmard N, Matthews E, Fialho D. Treatment Updates for Neuromuscular Channelopathies. Curr Treat Options Neurol. 2020;22(10):34. PMID: 32848354 PubMed  
  7. Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials. JAMA. 2018; Dec 11;320(22: 2344-2353. PMID: 30535218 PubMed  
  8. Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG; Consortium for Clinical Investigation of Neurologic Channelopathies.. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.. JAMA. 2012; 308(13): 1357-65. pmid:23032552 PubMed  
  9. Vicart S, Franques J, Bouhour F, Magot A, Péréon Y, Sacconi S, Nadaj-Pakleza A, Behin A, Zahr N, Hézode M, Fournier E, Payan C, Lacomblez L, Fontaine B. Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study. Neuromuscul Disord. 2021 Jun 27:S0960-8966(21)00164-4. PMID: 34702654. PubMed  
  10. Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J. The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study. Brain. 2017 Sep 1;140(9):2295-2305 . pmid:29050397 PubMed  
  11. Kley RA, Tarnopolsky MA, Vorgerd M. Creatine for treating muscle disorders.Cochrane Database Syst Rev. 2013 Jun 5;6:CD004760. doi: 10.1002/14651858.CD004760.pub4.PMID: 23740606 PubMed  
  12. Brooks EK, Schweitzer D, Robinson HL. A case of paramyotonia congenita in pregnancy. Obstet Med. 2020 Dec;13(4):192-194. PMID: 33343696 PubMed  
  13. Snyder Y, Donlin-Smith C, Snyder E, Pressman E, Ciafaloni E. The course and outcome of pregnancy in women with nondystrophic myotonias. Muscle Nerve. 2015 Apr 21 . pmid:25900207 PubMed  
  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD