Hopp til hovedinnhold

Duchenne muskeldystrofi

Sist revidert:
Sist revidert av:

Definisjon:
Recessiv X-bundet sykdom (rammer gutter) hvor genfeil fører til nær komplett mangel på dystrofin, som er nødvendig for normal utvikling av muskulatur. Sykdommen fører til progredierende tap av muskelceller
Forekomst:
Forekommer hos ca. 2 per 10.000 gutter
Symptomer:
Symptomene er langsommere motorisk utvikling enn normalt. Etter hvert blir gangen vaggende på grunn av tiltakende muskelsvakhet, de fleste blir avhengig av rullestol fra ca. 12 års alder
Funn:
Kliniske funn er svekket kraft/atrofi av proksimale muskelgrupper, tidligst synlig i lårmuskulatur
Diagnostikk:
Tilleggsundersøkelser er CK (kraftig forhøyet), EMG, muskelbiopsi. Bekrefteds ved genetisk testing
Behandling:
Det finnes ingen kausal behandling. Multidisiplinær behandling er nødvendig. Kortikosteroider kan bremse sykdomsutviklingen, og nye medikamenter er under utvikling.
  1. Crisafulli S, Sultana J, Fontana A, et al. Global epidemiology of Duchenne muscular dystrophy. Orphanet J Rare Dis. 2020;15(1):141. PMID: 32503598 PubMed  
  2. Fox H, Millington L, Mahabeer I, van Ruiten H. Duchenne muscular dystrophy. BMJ 2020; 368: l7012. pmid:31974125 PubMed  
  3. Houwen-van Opstal SLS, Heutinck L, Jansen M, et al. Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation. Muscle Nerve 2021; 64: 701-709. pmid:34453345 PubMed  
  4. Annexstad EJ, Lund-Pedersen I, Rasmussen M. Duchenne muscular dystrophy. Tidsskr Nor Legeforen 2014. pmid:25096430 PubMed  
  5. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol2018;17:251-67. PMID: 29395989 PubMed  
  6. Spurney CF, Ascheim D, Charnas L, et al. Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel. Heart 2021. doi:10.1136/openhrt-2021-001592 DOI  
  7. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol2018;17:347-61. PMID: 29395990 PubMed  
  8. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol2018;17:445-55. PMID: 29398641 PubMed  
  9. Bach JR. Muscular dystrophies. BestPractice, last updated Nov 19, 2014.
  10. Andersen G, Prahm KP, Dahlqvist JR, et al. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy. Neurology 2015; 85: 396-403. doi:http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000001808
  11. Guglieri M, Bushby K, McDermott MP, et al. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy A Randomized Clinical Trial. JAMA 2022; 327: 1456-68. pmid:35381069 PubMed  
  12. McDonald CM, Henricson EK, Abresch RT, et al. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet 2018; 391: 451-61. pmid:29174484 PubMed  
  13. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database of Systematic Reviews 2016, Issue 5. Art. No.: CD003725. DOI: 10.1002/14651858.CD003725.pub4 DOI  
  14. Gloss D, Moxley RT, Ashwal S, et al. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy. Neurology February 2, 2016 vol. 86 no. 5 465-472 . doi:10.​1212/​WNL.​0000000000002337
  15. McDonald CM, Campbell C, Torricelli RE, et al. 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  
  16. Duboc D, Meune C, Pierre B, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007; 154: 596-602. PubMed  
  17. Cheuk DKL, Wong V, Wraige E, Baxter P, Cole A. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database of Systematic Reviews 2015, Issue 10. Art. No.: CD005375. DOI: 10.1002/14651858.CD005375.pub4 DOI  
  18. Annane D, Orlikowski D, Chevret S. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database of Systematic Reviews 2014, Issue 12. Art. No.: CD001941. DOI: 10.1002/14651858.CD001941.pub3 DOI  
  19. Wang M, Birnkrant DJ, Super DM, et al. Progressive left ventricular dysfunction and long-term outcomes in patients with Duchenne muscular dystrophy receiving cardiopulmonary therapies. Open Heart 2018. doi:10.1136/openhrt-2018-000783 DOI  
  • Ingard Løge, spesialist i allmennmedisin, redaktør NEL

Tidligere fagmedarbeidere

  • Dr. Stephan Schüler, avdelingsoverlege Nevrologisk avdeling, Sykehuset Namsos