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Metabolske myopatier

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10: 118-26. PMID: 20425236 PubMed  
  2. Smith EC, El-Gharbawy A, Koeberl DD. Metabolic myopathies: clinical features and diagnostic approach. Rheum Dis Clin North Am 2011; 37: 201-17. PMID: 21444020 PubMed  
  3. Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. PMID: 32040565 PubMed  
  4. Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol. 2018 Feb;18(1):14-26. PMID: 29223996 PubMed  
  5. Aanem A, Birr M. The utility of genetic testing in neuromuscular disease: A Consensus Statement From the AANEM on the Clinical Utility of Genetic Testing in Diagnosis of Neuromuscular Disease. Muscle Nerve. 2016 Aug 23 . pmid:27554703 PubMed  
  6. Nance JR1, Mammen AL. Diagnostic evaluation of rhabdomyolysis.. Muscle Nerve 2015; Jun;51(6):793-810. pmid: 25678154 PubMed  
  7. Ørngreen MC, Vissing J. Treatment Opportunities in Patients With Metabolic Myopathies. Curr Treat Options Neurol. 2017. pmid:28932990 PubMed  
  8. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry 2012; 81(11): 1182-8. pmid:20861058 PubMed  
  9. Petrou P1, Pantzaris M2, Dionysiou M1, Drousiotou A1, Kyriakides T2.. Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum.. Muscle Nerve .2015; Nov;52(5):: 891-5.. pmid:26032558 PubMed  
  10. Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry 2010; 81: 1182-8. PMID: 20861058 PubMed  
  11. Løkken N, Revsbech KL, Jacobsen LN, Martinuzzi A, Martin MÁ, Díaz-Manera J, Dominguez-Gonzalez C, Brondani G, Musumeci O, Granata F, Stefan C, Merino-Sanchez C, Peralta CN, Khawajazada T, Alonso-Pérez J, Toscano A, Vissing J. Muscle MRI in McArdle Disease: A European Multicenter Observational Study. Neurology. 2022 Jul 19:10.1212/WNL.0000000000200914. doi: 10.1212/WNL.0000000000200914. Epub ahead of print. PMID: 35853747. PubMed  
  12. Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E. The role of electrodiagnosis with long exercise test in McArdle disease. Muscle Nerve. 2018 Jan 19. PMID: 29350794 PubMed  
  13. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009 Jul;40(1):149-60 . pmid:19533647 PubMed  
  14. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88 . pmid:16702877 PubMed  
  15. Evilä A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord. 2016 Jan;26(1):7-15 . pmid:26627873 PubMed  
  16. oscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019 Jul;7(13):284. doi: 10.21037/atm.2019.07.24. PMID: 31392196 PubMed  
  17. Beltran Papsdorf TB, Howard JF Jr, Chahin N. Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. Neurology 2014; 82: e73-5. pmid:24590251 PubMed  
  18. Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry 2015. pmid:25783438 PubMed  
  19. Hansen JS et al. Screening for late-onset Pompe disease in western Denmark. Acta Neurol Scand. 2017. pmid:28832912 PubMed  
  20. Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, Aryani O, Nafissi S. Late-onset Pompe disease in Iran, a clinical and genetic report. Muscle Nerve. 2016 Sep 20 . pmid:27649523 PubMed  
  21. Angelini C, Semplicini C. Metabolic myopathies: the challenge of new treatments. Curr Opin Pharmacol 2010; 10: 338-45. PMID: 20356791 PubMed  
  22. de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT.. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 2012; 7(1):: 73. pmid:23013746 PubMed  
  23. Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. 2017 Apr;264(4):621-630 . pmid:27372449 PubMed  
  24. van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31 . pmid:28477382 PubMed  
  25. Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, Dupré N, Dodig D, Genge A, Venance SL, Korngut L, Raiman J, Khan A. Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel. Can J Neurol Sci. 2016 Jul;43(4):472-85. doi: 10.1017/cjn.2016.37. Epub 2016 Apr 8. PMID: 27055517. PubMed  
  26. Vazquez do Campo R, Siegel J, Goldstein E, Dimberg E. Clinical Reasoning: A 45-year-old man with weakness and myalgia after orthopedic surgery. Neurology. 2017 May 9;88(19):e185-e189 . pmid:28483995 PubMed  
  27. Preisler N, Haller RG, Vissing J. Exercise in muscle glycogen storage diseases. J Inherit Metab Dis 2014. pmid:25326273 PubMed  
  28. Davalos L, Janecek J, Fudym Y, McKeever P, Callaghan BC. Clinical Reasoning: A 59-Year-Old Man With Progressive Proximal Weakness Since Childhood. Neurology. 2021 Nov 16;97(20):958-963. PMID: 34261780. PubMed  
  29. Gonzalez-Perez P, Torre M, Helgager J, Amato AA. Proximal muscle weakness. Pract Neurol. 2019 Aug;19(4):321-325. PMID: 30948559 PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med