Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Drousiotou, 1998, Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus, Genet Test, 2, 55, 10.1089/gte.1998.2.55 Bradley, 1998, Newborn screening for Duchenne muscular dystrophy, Semin Neonatol, 3, 27, 10.1016/S1084-2756(98)80146-2 Emery, 1991, Population frequencies of inherited neuromuscular diseases—a world survey, Neuromuscul Disord, 1, 19, 10.1016/0960-8966(91)90039-U Bushby, 1999, Failure of early diagnosis in symptomatic Duchenne muscular dystrophy, Lancet, 353, 55, 10.1016/S0140-6736(98)05279-9 Poysky, 2007, Behavior patterns in Duchenne muscular dystrophy: report on the Parent Project Muscular Dystrophy behavior workshop 8–9 of December 2006, Philadelphia, USA, Neuromuscul Disord, 17, 986, 10.1016/j.nmd.2007.06.465 Hoffman, 1987, Dystrophin: the protein product of the Duchenne muscular dystrophy locus, Cell, 51, 919, 10.1016/0092-8674(87)90579-4 Nicholson, 1993, Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups, J Med Genet, 30, 728, 10.1136/jmg.30.9.728 Nicholson, 1993, Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients, J Med Genet, 30, 737, 10.1136/jmg.30.9.737 Nicholson, 1993, Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis, J Med Genet, 30, 745, 10.1136/jmg.30.9.745 Towbin, 1998, The role of cytoskeletal proteins in cardiomyopathies, Curr Opin Cell Biol, 10, 131, 10.1016/S0955-0674(98)80096-3 Towbin, 2001, Molecular genetics of left ventricular dysfunction, Curr Mol Med, 1, 81, 10.2174/1566524013364077 Muntoni, 2003, Dystrophin and mutations: one gene, several proteins, multiple phenotypes, Lancet Neurol, 2, 731, 10.1016/S1474-4422(03)00585-4 Bushby, 1993, Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy, Neuromuscul Disord, 3, 57, 10.1016/0960-8966(93)90042-I Richards, 1990, Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy, Am J Hum Genet, 46, 672 Hoffman, 1992, Dystrophinopathy in isolated cases of myopathy in females, Neurology, 42, 967, 10.1212/WNL.42.5.967 Koenig, 1987, Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals, Cell, 50, 509, 10.1016/0092-8674(87)90504-6 Kunkel, 1987, Molecular studies of progressive muscular dystrophy (Duchenne), Enzyme, 38, 72, 10.1159/000469192 Muntoni, 2007, Genetic treatments in muscular dystrophies, Curr Opin Neurol, 20, 590, 10.1097/WCO.0b013e3282efc157 Manzur, 2008, Glucocorticoid corticosteroids for Duchenne muscular dystrophy, Cochrane Database Syst Rev, 1, 10.1002/14651858.CD003725.pub3 Moxley, 2005, Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society, Neurology, 64, 13, 10.1212/01.WNL.0000148485.00049.B7 Jeppesen, 2003, The Duchenne muscular dystrophy population in Denmark, 1977–2001: prevalence, incidence and survival in relation to the introduction of ventilator use, Neuromuscul Disord, 13, 804, 10.1016/S0960-8966(03)00162-7 Yasuma, 2004, A new lease on life for patients with Duchenne muscular dystrophy in Japan, Am J Med, 117, 363, 10.1016/j.amjmed.2004.03.028 Eagle, 2007, Managing Duchenne muscular dystrophy—the additive effect of spinal surgery and home nocturnal ventilation in improving survival, Neuromuscul Disord, 17, 470, 10.1016/j.nmd.2007.03.002 Eagle, 2002, Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002, Neuromuscul Disord, 12, 975, 10.1016/S0960-8966(02)00136-0 Markham, 2008, Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy, Neuromuscul Disord, 18, 365, 10.1016/j.nmd.2008.03.002 2005, Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy, Pediatrics, 116, 1569, 10.1542/peds.2005-2448 Bushby, 2003, 107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands, Neuromuscul Disord, 13, 166, 10.1016/S0960-8966(02)00213-4 Duboc, 2005, Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy, J Am Coll Cardiol, 45, 855, 10.1016/j.jacc.2004.09.078 Brooke, 1989, Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy, Neurology, 39, 475, 10.1212/WNL.39.4.475 Vignos, 1996, Evaluation of a program for long-term treatment of Duchenne muscular dystrophy. Experience at the University Hospitals of Cleveland, J Bone Joint Surg Am, 78, 1844, 10.2106/00004623-199612000-00007 Rahbek, 2005, Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population, Pediatr Rehabil, 8, 17, 10.1080/13638490400010191 Tatara, 2008, Management of mechanical ventilation and prognosis in duchenne muscular dystrophy, IRYO Jap J Natl Med Serv, 62, 566 Bushby, 2009, Diagnosis and management of Duchenne muscular dystrophy, part 2: implemenetation of multidisciplinary care, Lancet Neurol Fitch, 2001 Parsons, 2004, Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection, Eur J Paediatr Neurol, 8, 145, 10.1016/j.ejpn.2004.01.009 Prior, 2005, Experience and strategy for the molecular testing of Duchenne muscular dystrophy, J Mol Diagn, 7, 317, 10.1016/S1525-1578(10)60560-0 Lalic, 2005, Deletion and duplication screening in the DMD gene using MLPA, Eur J Hum Genet, 13, 1231, 10.1038/sj.ejhg.5201465 Flanigan, 2003, Rapid direct sequence analysis of the dystrophin gene, Am J Hum Genet, 72, 931, 10.1086/374176 Dent, 2005, Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort, Am J Med Genet A, 134, 295, 10.1002/ajmg.a.30617 Lim, 2008, Technology insight: therapy for Duchenne muscular dystrophy—an opportunity for personalized medicine?, Nat Clin Pract Neurol, 4, 149, 10.1038/ncpneuro0737 van Ommen, 2008, The therapeutic potential of antisense-mediated exon skipping, Curr Opin Mol Ther, 10, 140 van Deutekom, 2007, Local dystrophin restoration with antisense oligonucleotide PRO051, N Engl J Med, 357, 2677, 10.1056/NEJMoa073108 Muntoni, 2001, Is a muscle biopsy in Duchenne dystrophy really necessary?, Neurology, 57, 574, 10.1212/WNL.57.4.574 Lacomis, 2000, The use of percutaneous needle muscle biopsy in the diagnosis of myopathy, Curr Rheumatol Rep, 2, 225, 10.1007/s11926-000-0083-x Lacomis, 2004, The utility of muscle biopsy, Curr Neurol Neurosci Rep, 4, 81, 10.1007/s11910-004-0017-5 Henriksson, 1979, Semi-open muscle biopsy technique. A simple outpatient procedure, Acta Neurol Scand, 59, 317, 10.1111/j.1600-0404.1979.tb02942.x Dorph, 2001, Percutaneous conchotome muscle biopsy. A useful diagnostic and assessment tool, J Rheumatol, 28, 1591 Beenakker, 2005, Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients, Eur J Paediatr Neurol, 9, 387, 10.1016/j.ejpn.2005.06.004 Florence, 1984, Clinical trials in Duchenne dystrophy. Standardization and reliability of evaluation procedures, Phys Ther, 64, 41, 10.1093/ptj/64.1.41 Pandya, 1985, Reliability of goniometric measurements in patients with Duchenne muscular dystrophy, Phys Ther, 65, 1339, 10.1093/ptj/65.9.1339 Brooke, 1981, Clinical trial in Duchenne dystrophy. 1. The design of the protocol, Muscle Nerve, 4, 186, 10.1002/mus.880040304 Gorospe, 1992, Duchenne muscular dystrophy, Curr Opin Rheumatol, 4, 794 Matsumura, 1993, The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies, Neuromuscul Disord, 3, 533, 10.1016/0960-8966(93)90110-6 Johnson, 1977, Zeiter Lecture: pathokinesiology of Duchenne muscular dystrophy: implications for management, Arch Phys Med Rehabil, 58, 4 McDonald, 1995, Profiles of neuromuscular diseases. Duchenne muscular dystrophy, Am J Phys Med Rehabil, 74, S70, 10.1097/00002060-199509001-00003 Siegel, 1972, Pathomechanics of stance in Duchenne muscular dystrophy, Arch Phys Med Rehabil, 53, 403 Sutherland, 1981, The pathomechanics of gait in Duchenne muscular dystrophy, Dev Med Child Neurol, 23, 3, 10.1111/j.1469-8749.1981.tb08442.x Angelini, 2007, The role of corticosteroids in muscular dystrophy: a critical appraisal, Muscle Nerve, 36, 424, 10.1002/mus.20812 Bushby, 2004, Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2–4 April 2004, Naarden, The Netherlands, Neuromuscul Disord, 14, 526, 10.1016/j.nmd.2004.05.006 King, 2007, Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy, Neurology, 68, 1607, 10.1212/01.wnl.0000260974.41514.83 Biggar, 2006, Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade, Neuromuscul Disord, 16, 249, 10.1016/j.nmd.2006.01.010 Houde, 2008, Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up, Pediatr Neurol, 38, 200, 10.1016/j.pediatrneurol.2007.11.001 Griggs, 1991, Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response, Arch Neurol, 48, 383, 10.1001/archneur.1991.00530160047012 Mendell, 1989, Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy, N Engl J Med, 320, 1592, 10.1056/NEJM198906153202405 Fenichel, 1991, A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy, Arch Neurol, 48, 575, 10.1001/archneur.1991.00530180027012 Mesa, 1991, Steroids in Duchenne muscular dystrophy—deflazacort trial, Neuromuscul Disord, 1, 261, 10.1016/0960-8966(91)90099-E Biggar, 2004, Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols, Neuromuscul Disord, 14, 476, 10.1016/j.nmd.2004.05.001 Fenichel, 1991, Long-term benefit from prednisone therapy in Duchenne muscular dystrophy, Neurology, 41, 1874, 10.1212/WNL.41.12.1874 Bonifati, 2000, A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy, Muscle Nerve, 23, 1344, 10.1002/1097-4598(200009)23:9<1344::AID-MUS4>3.0.CO;2-F Kleinman, 2009 Daley-Yates, 2004, Relationship between systemic corticosteroid exposure and growth velocity: development and validation of a pharmacokinetic/pharmacodynamic model, Clin Ther, 26, 1905, 10.1016/j.clinthera.2004.11.017 Foster, 2004, Interactions between growth and body composition in children treated with high-dose chronic glucocorticoids, Am J Clin Nutr, 80, 1334, 10.1093/ajcn/80.5.1334 Stuart, 2005, Adverse psychological effects of corticosteroids in children and adolescents, Arch Dis Child, 90, 500, 10.1136/adc.2003.041541 Bender, 1998, Neuropsychological and behavioral changes in asthmatic children treated with beclomethasone dipropionate versus theophylline, Pediatrics, 101, 355, 10.1542/peds.101.3.355 Balaban, 2005, Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect, Am J Phys Med Rehabil, 84, 843, 10.1097/01.phm.0000184156.98671.d0 Mortimer, 2006, Oral and inhaled corticosteroids and adrenal insufficiency: a case-control study, Thorax, 61, 405, 10.1136/thx.2005.052456 2005 Brown, 2005, Proposals for prevention and management of steroid-induced osteoporosis in children and adolescents, J Paediatr Child Health, 41, 553, 10.1111/j.1440-1754.2005.00718.x Garrood, 2008, Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapy, Neuromuscul Disord, 18, 71, 10.1016/j.nmd.2007.07.006 Brooke, 1983, Clinical investigation in Duchenne dystrophy: 2. Determination of the power of therapeutic trials based on the natural history, Muscle Nerve, 6, 91, 10.1002/mus.880060204 Bushby, 2007, 145th ENMC International Workshop: planning for an international trial of steroid dosage regimes in DMD (FOR DMD), 22–24th October 2006, Naarden, The Netherlands, Neuromuscul Disord, 17, 423, 10.1016/j.nmd.2007.01.006 Biggar, 2001, Deflazacort treatment of Duchenne muscular dystrophy, J Pediatr, 138, 45, 10.1067/mpd.2001.109601 Escolar, 2005, CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy, Ann Neurol, 58, 151, 10.1002/ana.20523 Cyrulnik, 2008, Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD), J Int Neuropsychol Soc, 14, 853, 10.1017/S135561770808106X Green, 1996, Diagnosis of Duchenne muscular dystrophy: parents' experiences and satisfaction, Child Care Health Dev, 22, 113, 10.1111/j.1365-2214.1996.tb00779.x Nereo, 2003, Parental stress in mothers of boys with Duchenne muscular dystrophy, J Pediatr Psychol, 28, 473, 10.1093/jpepsy/jsg038 Anderson, 2002, Brain function in Duchenne muscular dystrophy, Brain, 125, 4, 10.1093/brain/awf012 Kazdin, 2003 Hendriksen, 2009, Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire, J Pediatr Psychol, 34, 69, 10.1093/jpepsy/jsn067 Hinton, 2001, Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of Duchenne muscular dystrophy, J Int Neuropsychol Soc, 7, 45, 10.1017/S1355617701711058 Cyrulnik, 2007, Delayed developmental language milestones in children with Duchenne's muscular dystrophy, J Pediatr, 150, 474, 10.1016/j.jpeds.2006.12.045 Cotton, 2005, Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: further results from a meta-analysis, Dev Med Child Neurol, 47, 257, 10.1017/S0012162205000496 Hendriksen, 2006, Are males with Duchenne muscular dystrophy at risk for reading disabilities?, Pediatr Neurol, 34, 296, 10.1016/j.pediatrneurol.2005.08.029 Hendriksen, 2008, Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder, J Child Neurol, 23, 477, 10.1177/0883073807309775 Daoud, 2004, Depression in parents of children with Duchenne muscular dystrophy, Pediatr Neurol, 31, 16, 10.1016/j.pediatrneurol.2004.01.011