Neurologie up2date, Table of Contents Neurologie up2date 2018; 1(01): 83-103DOI: 10.1055/a-0657-7631 Myopathien und Neuropathien Georg Thieme Verlag KG Stuttgart · New York Diagnostik und Therapie der Muskeldystrophien Rudolf Korinthenberg Recommend Article Abstract All articles of this category Die Muskeldystrophien stellen eine sehr variable Gruppe genetischer Muskelerkrankungen dar. Die häufigste Unterform Duchenne-Muskeldystrophie beginnt bereits im frühen Kindesalter und interessiert zunächst vor allem Kinderärzte und Kinderneurologen. Das heute jahrzehntelange Überleben führt diese Patienten aber zunehmend in die Betreuung der Erwachsenenmedizin. Seltener sind die Typen mit Manifestation im Jugend- und Erwachsenenalter, die primär vom Neurologen zu erkennen und zu betreuen sind. Full Text References Literatur 1 Koenig M, Hoffmann EP, Bertelson CJ. et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 48: 351-357 2 Domingos J, Sarkozy A, Scoto M. et al. Dystrophinopathies and limb-girdle muscular dystrophies. Neuropediatrics 2017; 48: 262-272 3 Kirschner J, Bönnemann CG. The congenital and limb-girdle muscular dystrophies. Sharpening the focus, blurring the boundaries. Arch Neurol 2004; 61: 189-199 4 Vissing J. Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies. Curr Opin Neurol 2016; 29: 635-641 5 Magri F, Nigro V, Angelini C. et al. The Italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle Nerve 2017; 55: 55-68 6 van Putten M, Aartsma-Rus A, Grounds MD. et al. Update on standard operating procedures in preclinical research for DMD and SMA. Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands. J Neuromuscul Dis 2018; 5: 29-34 7 Reinig AM, Mirzaei S, Berlau DJ. Advances in the treatment of Duchenne muscular dystrophy: new and emerging pharmacotherapies. Pharmacotherapy 2017; 37: 492-499 8 Schuntermann MF. The implementation of the International Classification of Functioning, Disability and Health in Germany: experiences and problems. Int J Rehabil Res 2005; 28: 93-102 9 Bushby K, Finkel R, Birnkrant DJ. et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93 10 Bushby K, Finkel R, Birnkrant DJ. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-189 11 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 Neurol 2018; 17: 251-267 12 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 Neurol 2018; 17: 347-361 13 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 Neurol 2018; 17: 445-455 14 Jeppesen J, Green A, Steffensen BF. et al. The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromuscul Disord 2003; 13: 804-812 15 Narayanaswami P, Weiss M, Selcen D. et al. 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; 83: 1453-1463 16 Silvestri NJ, Ismail H, Zimetbaum P. et al. Cardiac involvement in the muscular dystrophies. Muscle Nerve 2018; 57: 707-715 17 Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010; 20: 2447-2460 18 Ten Dam L, van der Kooi AJ, Verhamme C. et al. Muscle imaging in inherited and acquired muscle diseases. Eur J Neurol 2016; 23: 688-703 19 Mohassel P, Mammen AL. Anti-HMGCR-Myopathy. J Neuromuscul Dis 2018; 5: 11-20 20 Wang CH, Bonnemann CG, Rutkowski A. et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010; 25: 1559-1581 21 Wang CH, Dowling JJ, North K. et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol 2012; 27: 363-382 22 Wang CH, Finkel RS, Bertini ES. et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007; 22: 1027-1049 23 Finkel RS, Mercuri E, Meyer OH. et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disord 2018; 28: 197-207 24 Mercuri E, Finkel RS, Muntoni F. et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disord 2018; 28: 103-115 25 Matthews E, Brassington R, Kuntzer T. et al. Corticosteroids for the treatment of Duchenne muscular dystrophy. Cochrane Database Syst Rev 2016; (5): CD003725. Cochrane Database Syst Rev 2016; (05) CD003725 26 Sveen ML, Andersen SP, Ingelsrud LH. et al. Resistance training in patients with limb-girdle and Becker muscular dystrophies. Muscle Nerve 2013; 47: 163-169 27 Voet N, Bleijenberg G, Hendriks J. et al. Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT. Neurology 2014; 83: 1914-1922 28 Wright NC, Kilmer DD, McCrory MA. et al. Aerobic walking in slowly progressive neuromuscular disease: effect of a 12-week program. Arch Phys Med Rehabil 1996; 77: 64-69 29 Cheuk DK, Wong V, Wraige E. et al. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev 2015; (10) CD005375 30 Archer JE, Gardner AC, Roper HP. et al. Duchenne muscular dystrophy: the management of scoliosis. J Spine Surg 2016; 2: 185-194 31 LoMauro A, DʼAngelo MG, Aliverti A. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options. Ther Clin Risk Manag 2015; 11: 1475-1488 32 Papa AA, DʼAmbrosio P, Petillo R. et al. Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series. Intractable Rare Dis Res 2017; 6: 95-101 33 Bach JR, Campagnolo DI, Hoeman S. Life satisfaction of individuals with Duchenne muscular dystrophy using long-term mechanical ventilatory support. Am J Phys Med Rehabil 1991; 70: 129-135 34 Vry J, Gramsch K, Rodger S. et al. European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. J Neuromuscular Dis 2016; 3: 517-527 35 Robinson-Hamm JN, Gersbach CA. Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy. Hum Genet 2016; 135: 1029-1040 36 Goemans NM, Tulinius M, van den Akker JT. et al. Systemic administration of PRO051 in Duchenneʼs muscular dystrophy. N Engl J Med 2011; 364: 1513-1522 37 Cirak S, Arechavala-Gomeza V, Guglieri M. et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011; 378: 595-605 38 Voit T, Topaloglu H, Straub V. et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 2014; 13: 987-996 39 Goemans N, Mercuri E, Belousova E. et al. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscul Disord 2018; 28: 4-15 40 Mendell JR, Rodino-Klapac LR, Sahenk Z. et al. Eteplirsen for the Treatment of Duchenne Muscular Dystrophy. Ann Neurol 2013; 74: 637-647 41 Randeree L, Eslick GD. Eteplirsen for paediatric patients with Duchenne muscular dystrophy: A pooled-analysis. J Clin Neurosci 2018; 49: 1-6 42 Bushby K, Finkel R, Wong B. et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve 2014; 50: 477-487 43 McDonald CM, Campbell C. Torricell RE,et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2017; 390: 1489-1498 44 Buyse GM, Voit T, Schara U. et al. 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; 385: 1748-1757