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Dystrofia myotonika

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Solbakken G, Ørstavik K, Hagen T, Dietrichs E, Naerland T. Major involvement of trunk muscles in myotonic dystrophy type 1. Acta Neurol Scand. 2016 Dec;134(6):467-473. doi: 10.1111/ane.12565. Epub 2016 Feb 1. PMID: 26984572. PubMed  
  2. Solbakken G, Løseth S, Froholdt A, Eikeland TD, Nærland T, Frich JC, Dietrichs E, Ørstavik K. Pain in adult myotonic dystrophy type 1: relation to function and gender. BMC Neurol. 2021 Mar 4;21(1):101. doi: 10.1186/s12883-021-02124-9. PMID: 33663406 PubMed  
  3. Hilbert JE1, Barohn RJ2, Clemens PR2, Luebbe EA2, Martens WB2, McDermott MP2, Parkhill AL2, Tawil R2, Thornton CA2, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators.. High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.. Neurology. 2017. pmid:28855409 PubMed  
  4. Paunic T1, Peric S2, Cvitan E2, Raspopovic S3, Peric M4, Mandic Stojmenovic G2, Rakocevic Stojanovic V5.. Routine echocardiography in patients with myotonic dystrophy type 1.. J Chin Med Assoc. 2017. pmid:28601625 PubMed  
  5. Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec;8(6):507-520. pmid:30588381 PubMed  
  6. Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, 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. doi: 10.1001/jama.2018.18020. PMID: 30535218 PubMed  
  7. Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010;4;74: 1441-8. PMID:20439846 PubMed  
  8. Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2013 Jul 9;(7):CD003907. doi: 10.1002/14651858.CD003907.pub4. Update in: Cochrane Database Syst Rev. 2019 Dec 6;12:CD003907. PMID: 23835682. PubMed  
  9. Knak KL, Sheikh AM, Witting N, Vissing J. Physical activity in myotonic dystrophy type 1. J Neurol. 2020 Jun;267(6):1679-1686. doi: 10.1007/s00415-020-09758-8. Epub 2020 Feb 17. PMID: 32065254. PubMed  
  10. Kramarz C, Turner A, Alakbarzade V, Mclean B. Myotonic dystrophy: a cause of acute breathlessness not to be missed. Pract Neurol. 2020 Sep 24:practneurol-2020-002573. PMID: 32973036. PubMed  
  11. Boentert M, Cao M, Mass D, De Mattia E, Falcier E, Goncalves M, Holland V, Katz SL, Orlikowski D, Sannicolò G, Wijkstra P, Hellerstein L, Sansone VA. Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1. Respiration. 2020;99(4):360-368. doi: 10.1159/000505634. Epub 2020 Apr 16. PMID: 32299079. PubMed  
  12. van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. Eur J Neurol. 2022 Aug 16. doi: 10.1111/ene.15526. Epub ahead of print. PMID: 35971866. PubMed  
  13. Udd B, Krahe R.. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol;2012: 11(10): 891-905. pmid:22995693 PubMed  
  14. Dahlqvist JR1, Ørngreen MC, Witting N, Vissing J.. Endocrine function over time in patients with myotonic dystrophy type 1. Eur J Neurol. 2015; Jan;22(1): 116-22. pmid:25155546 PubMed  
  15. van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. Eur J Neurol. 2022 Dec;29(12):3486-3507. doi: 10.1111/ene.15526. Epub 2022 Sep 14. PMID: 35971866. PubMed  
  16. Lam EM, Shepard PW, St Louis EK, Dueffert LG, Slocumb N, McCarter SJ, Silber MH, Boeve BF, Olson EJ, Somers VK, Milone M.. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology 2013; 81: 157-64. PMID:23749798 PubMed  
  17. Schoser B. Myotonic Dystrophy Type 2. 2006 Sep 21 updated 2020 Mar 19. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® Internet. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301639. PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med