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Muskeldystrofier

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Finsterer J. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol 2010; May 25: PMID: 20500522. PubMed  
  2. Nicolau S, Kao JC, Liewluck T. Trouble at the junction: When myopathy and myasthenia overlap. Muscle Nerve. 2019 Aug 26. PMID: 31449669 PubMed  
  3. Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology 2015; 84: 1369-78. pmid:25825463 PubMed  
  4. Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC, Gronseth G, Amato AA.. Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.. Neurology. 2014 ; Oct 14;83(16): 1453-63. . pmid:25313375 PubMed  
  5. Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020. pmid:31974125 PubMed  
  6. Jia FF, Drew AP, Nicholson GA, Corbett A, Kumar KR. Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings. Neuromuscul Disord. 2021 Oct 2:S0960-8966(21)00656-8. PMID: 34711481. PubMed  
  7. Annexstad EJ, Lund-Petersen I, Rasmussen M.. Duchenne muscular dystrophy. Tidsskr Nor Laegeforen. 2014. PMID: 25096430 PubMed  
  8. Houwen-van Opstal SLS, Heutinck L, Jansen M, Krom YD, Cup EHC, Hendriksen JGM, Willemsen MAAP, Verschuuren JJGM, Niks EH, de Groot IJM. Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation. Muscle Nerve. 2021 Aug 27. PMID: 34453345. PubMed  
  9. Cheuk DK, Wong V, Wraige E, Baxter P, Cole A. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2015 Oct 1;10:CD005375 . pmid: 26423318 PubMed  
  10. Trucco F, Ridout D, Domingos J, Maresh K, Chesshyre M, Munot P, Sarkozy A, Robb S, Quinlivan R, Riley M, Wallis C, Chan E, Abel F, De Lucia S, Hogrel JY, Niks EH, de Groot I, Servais L, Straub V, Ricotti V, Manzur A, Muntoni F; UK NorthStar Clinical Network and AFM Network. Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study. Muscle Nerve. 2021 Oct 4. PMID: 34606104. PubMed  
  11. Mul K, et al. What's in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pract Neurol. 2016 Jun;16(3):201-7 . pmid:26862222 PubMed  
  12. Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM. Adding quantitative muscle MRI to the FSHD clinical trial toolbox. Neurology. 2017 Oct 13 . pmid:29030457 PubMed  
  13. Gloss D et al. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2016; Feb 2;86(5): 465-72. pmid:26833937 PubMed  
  14. Kochar GS, Sondhi V, Kabra SK, Yadav SL, Dwivedi SN, Gulati S. Intermittent versus daily regimen of prednisolone in ambulatory boys with Duchenne muscular dystrophy: A randomized, open-label trial. Muscle Nerve. 2021 Oct 7. PMID: 34617309. PubMed  
  15. Griggs RC, Herr BE, Reha A, Elfring G, Atkinson L, Cwik V, McColl E, Tawil R, Pandya S, McDermott MP, Bushby K. Corticosteroids in Duchenne muscular dystrophy: major variations in practice.Muscle Nerve. 2013 Jul;48(1):27-31. doi: 10.1002/mus.23831. Epub 2013 Apr 25.PMID: 23483575 PubMed  
  16. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9: 314-23. PMID: 19923111 PubMed  
  17. Falzarano MS, Scotton C, Passarelli C, Ferlini A.. Duchenne Muscular Dystrophy: From Diagnosis to Therapy.. Molecules 2015; Oct 7;20(10):18168-84: 18168-84. pmid:26457695 PubMed  
  18. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23;390(10101):1489-1498 . pmid:28728956 PubMed  
  19. Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T; DELOS Study Group.. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.. Lancet 2015; May 2;385(9979): 1748-57. pmid:25907158 PubMed  
  20. Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group.. Eteplirsen for the treatment of Duchenne muscular dystrophy.. Ann Neurol 2013; Nov;74(5):: 637-47. pmid:23907995 PubMed  
  21. Shieh PB, Elfring G, Trifillis P, Santos C, Peltz SW, Parsons JA, Apkon S, Darras BT, Campbell C, McDonald CM; Members of the Ataluren Phase IIb Study Group †; Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group ‡; Members of the ACT DMD Study Group ¶; Members of the ACT DMD Clinical Evaluator Training Group §. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2021 Oct 25. PMID: 34693725. PubMed  
  22. Elangkovan N, Dickson G. Gene Therapy for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2021 Sep 7. PMID: 34511510. PubMed  
  23. Markert CD, Ambrosio F, Call JA, Grange RW. Exercise and Duchenne muscular dystrophy: toward evidence-based exercise prescription. Muscle Nerve 2011; 43: 464-78.
  24. 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  
  25. Preston MK, Tawil R, Wang LH. . Facioscapulohumeral Muscular Dystrophy. . GeneReviews 2020. pmid:20301616 PubMed  
  26. Voet N, et al. Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT. Neurology. 2014; Nov 18;83(21): 1914-22. pmid: 25339206 PubMed  
  27. Andersen G, Prahm KP, Dahlqvist JR, Citirak G, Vissing J. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study. Neurology. 2015 Aug 4;85(5):396-403 . pmid:26156512 PubMed  
  28. Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2017 Nov 24. pii: jnnp-2017-317018. PMID: 29175898 PubMed  
  29. Liewluck T, Milone M. Untangling the Complexity of Limb-girdle Muscular Dystrophies. Muscle Nerve. 2018 Jan 19. PMID: 29350766 PubMed  
  30. Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, Nishino I, Murata M. Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. Muscle Nerve. 2017 Apr;55(4):465-469ub 2016 Dec 30. PMID: . pmid:27500519 PubMed  
  31. Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry. 2017 Sep 9 . pmid:28889091 PubMed  
  32. Mohassel P, et al. Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. Neurol Neuroimmunol Neuroinflamm. 2018. pmid:30588482 PubMed  
  33. Malek N, O'Donovan DG, Manji H. AL amyloidosis presenting with limb girdle myopathy. Pract Neurol. 2018; Dec;18(6): 497-500. pmid:30042220 PubMed  
  34. Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Sarcoglycanopathies: an update. Neuromuscul Disord. 2021 Jul 28:S0960-8966(21)00201-7. PMID: 34404573. PubMed  
  35. Heller SA, Shih R, Kalra R, Kang PB.. Emery-Dreifuss muscular dystrophy. Muscle Nerve 2020. pmid:31840275 PubMed  
  36. apadimas GK, Xirou S, Kararizou E, Papadopoulos C. Update on Congenital Myopathies in Adulthood. Int J Mol Sci. 2020 May 24;21(10):3694. doi: 10.3390/ijms21103694. PMID: 32456280 PubMed  
  37. 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  
  38. Karceski S. Diagnosis and treatment of facioscapulohumeral muscular dystrophy: 2015 guidelines. Neurology. 2015 Jul 28;85(4):e41-3 . pmid:26215885 PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor, PhD
  • Åse Mygland, spesialist i nevrologi, professor, dr med