肌营养不良

King WM, Ruttencutter R, Nagaraja HN, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology. 2007;68:1607-1613.

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Kley RA, Tarnopolsky MA, Vorgerd M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2013;(6):CD004760.

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Forst J, Forst R. Lower limb surgery in Duchenne muscular dystrophy. Neuromuscul Disord. 1999;9:176-181.

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Ishikawa Y, Miura T, Ishikawa Y, et al. Duchenne muscular dystrophy: survival by cardio-respiratory interventions. Neuromuscul Disord. 2011;21:47-51.

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Bach JR. A comparison of long-term ventilatory support alternatives from the perspective of the patient and care giver. Chest. 1993;104:1702-1706.

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1.  Hoffman EP, Arahata K, Minetti C, et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology. 1992;42:967-975.

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2.  Zellweger H, Afifi A, McCormick WF, et al. Severe congenital muscular dystrophy. Am J Dis Child. 1967;114:591-602.

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3.  Emery AE. Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull. 1980;36:117-122.

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4.  Siciliano G, Manca M, Gennarelli M, et al. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis. Clin Genet. 2001;59:344-349.

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5.  Mostacciuolo ML, Pastorello E, Vazza G, et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Genet. 2009;75:550-555.

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6.  van der Kooi AJ. Limb girdle muscular dystrophy (generic term). Orphanet Encyclopedia. February 2004. http://www.orpha.net (last accessed 6 September 2017).

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7.  Mostacciuolo ML, Miorin M, Martinello F, et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996;97:277-279.

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8.  Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 1992;355:548-551.

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9.  Gomez-Merino E, Bach JR. Duchenne muscular dystrophy: prolongation of life by noninvasive ventilation and mechanically assisted coughing. Am J Phys Med Rehabil. 2002;81:411-415.

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10.  Forst J, Forst R, Leithe H, et al. Platelet function deficiency in Duchenne muscular dystrophy. Neuromuscul Disord. 1998;8:46-49.

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11.  Noordeen MH, Haddad FS, Muntoni F, et al. Blood loss in Duchenne muscular dystrophy: vascular smooth muscle dysfunction? J Pediatr Orthop B. 1999;8:212-215.

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12.  Amato AA, Russell JA. Neuromuscular disorders. New York, NY: McGraw-Hill; 2008.

13.  Finsterer J, Stöllberger C, Keller H. Arrhythmia-related workup in hereditary myopathies. J Electrocardiol. 2012;45:376-384.

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14.  Walton JN, Gardner-Medwin D. The muscular dystrophies. In: Walton JN, ed. Disorders of voluntary muscle. 5th ed. Edinburgh, UK: Churchill Livingstone; 1988:519-568.

15.  Mascarenhas DA, Spodick DH, Chad DA, et al. Cardiomyopathy of limb-girdle muscular dystrophy. J Am Coll Cardiol. 1994;24:1328-1333.

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16.  McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases: Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74:70-92.

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17.  Cartegni L, di Barletta MR, Barresi R, et al. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1997;6:2257-2264.

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18.  Bach JR, Kang SW. Disorders of ventilation: weakness, stiffness, and mobilization. Chest. 2000;117:301-303.

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19.  Navarro CT, Teijeira S. Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies. Expert Opin Med Diagn. 2009;3:631-647.

20.  Tamura T, Shibuya N, Hashiba K, et al. Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT. Jpn Heart J. 1993;34:51-61.

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21.  Ishikawa Y, Bach JR, Minami R. Cardioprotection for Duchenne's muscular dystrophy. Am Heart J. 1999;137:895-902.

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22.  Ishikawa Y, Bach JR. Cardiac management. In: Bach JR. Management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004:75-104.

23.  Maack C, Elter T, Nickenig G, et al. Prospective crossover comparison of carvedilol and metoprolol in patients with chronic heart failure. J Am Coll Cardiol. 2001;38:939-946.

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24.  Rhodes J, Margossian R, Darras BT, et al. Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. Pediatr Cardiol. 2008;29:343-351.

25.  Lechtzin N, Shade D, Clawson L, et al. Supramaximal inflation improves lung compliance in subjects with amyotrophic lateral sclerosis. Chest. 2006;129:1322-1329.

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26.  Kang SW, Bach JR. Maximum insufflation capacity. Chest. 2000;118:61-65.

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27.  Biggar WD, Harris VA, Eliasoph L, et al. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord. 2006;16:249-255.

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28.  King WM, Ruttencutter R, Nagaraja HN, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology. 2007;68:1607-1613.

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29.  Bach JR, Martinez D, Saulat B. Duchenne muscular dystrophy: the effect of glucocorticoids on ventilator use and ambulation. Am J Phys Med Rehabil. 2010;89:620-624.

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30.  Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008;(1):CD003725.

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31.  Davidson ZE, Truby H. A review of nutrition in Duchenne muscular dystrophy. J Hum Nutr Diet. 2009;22:383-393.

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32.  Bushby K, Finkel R, Birnkrant DJ, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.

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33.  Moxley RT 3rd, Ashwal S, Pandya S, et al. 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. 2005;64:13-20.

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34.  Kley RA, Tarnopolsky MA, Vorgerd M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2013;(6):CD004760.

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35.  de Lateur BJ, Giaconi RM. Effect on maximal strength of submaximal exercise in Duchenne muscular dystrophy. Am J Phys Med. 1979;58:26-36.

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36.  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.

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37.  Gianola S, Pecoraro V, Lambiase S, et al. Efficacy of muscle exercise in patients with muscular dystrophy: a systematic review showing a missed opportunity to improve outcomes. PLoS One. 2013;8:e65414.

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38.  Bach JR, McKeon J. Orthopedic surgery and rehabilitation for the prolongation of brace-free ambulation of patients with Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1991;70:323-331.

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39.  Forst J, Forst R. Lower limb surgery in Duchenne muscular dystrophy. Neuromuscul Disord. 1999;9:176-181.

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40.  Bach JR, Lieberman JS. Rehabilitation of the patient with disease affecting the motor unit. In: DeLisa JA, ed. Rehabilitation medicine: principles and practice. 2nd ed. Philadelphia, PA: JB Lippincott; 1993:1099-1110.

41.  Bach JR, Valenza J, Ogin S. Stage 2: stage of loss of ambulation. In: Bach JR. Management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004:125-154.

42.  Bach JR, Zeelenberg AP, Winter C. Wheelchair-mounted robot manipulators: long term use by patients with Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1990;69:55-59.

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43.  Bach JR. Stage 1: the ambulatory stage. In: Bach JR. Management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004:107-124.

44.  Rose KJ, Burns J, Wheeler DM, et al. Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database Syst Rev. 2010;(2):CD006973.

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45.  Bakker JP, de Groot IJ, Beckerman H, et al. The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature. Clin Rehabil. 2000;14:343-359.

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46.  Bach JR, Alba AS, Saporito LR. Intermittent positive pressure ventilation via the mouth as an alternative to tracheostomy for 257 ventilator users. Chest. 1993;103:174-182.

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47.  Boitano LJ, Jordan T, Benditt JO. Noninvasive ventilation allows gastrostomy tube placement in patients with advanced ALS. Neurology. 2001;56:413-414.

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48.  Gregory S, Siderowf A, Golaszewski AL, et al. Gastrostomy insertion in ALS patients with low vital capacity: respiratory support and survival. Neurology. 2002;58:485-487.

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49.  Bach JR, Gonzalez M, Sharma A, et al. Open gastrostomy for noninvasive ventilation users with neuromuscular disease. Am J Phys Med Rehabil. 2010;89:1-6.

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50.  Gibson DA, Wilkins KE. The management of spinal deformities in Duchenne muscular dystrophy: a new concept of spinal bracing. Clin Orthop Relat Res. 1975;108:41-51.

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51.  Hickey BA, Towriss C, Baxter G, et al. Early experience of MAGEC magnetic growing rods in the treatment of early onset scoliosis. Eur Spine J. 2014;23(suppl 1):S61-S65.

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52.  D'Amato CR, Griggs S, McCoy B. Nighttime bracing with the Providence brace in adolescent girls with idiopathic scoliosis. Spine (Phila Pa 1976). 2001;26:2006-2012.

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53.  Thomas MA, Wang Y. Scoliosis and kyphosis. In: Frontera WR, Silver JK, Rizzo TD, eds. Essentials of physical medicine and rehabilitation. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2008:841-847.

54.  Brown JC, Zeller JL, Swank SM, et al. Surgical and functional results of spine fusion in spinal muscular atrophy. Spine. 1989;14:763-770.

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55.  Ramirez N, Richards BS, Warren PD, et al. Complications after posterior spinal fusion in Duchenne's muscular dystrophy. J Pediatr Orthop. 1997;17:109-114.

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56.  Rideau Y, Glorion B, Delaubier A, et al. Treatment of scoliosis in Duchenne muscular dystrophy. Muscle Nerve. 1984;7:281-286.

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57.  Barnett V, Bach JR. Psychological considerations in the treatment of individuals with generalized neuromuscular disorders. Semin Neurol. 1995;15:58-64.

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58.  Bach JR. Update and perspectives on noninvasive respiratory muscle aids. Part 1: the inspiratory aids. Chest. 1994;105:1230-1240.

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59.  Bach JR, Alba AS. Management of chronic alveolar hypoventilation by nasal ventilation. Chest. 1990;97:52-57.

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60.  Mahajan KR, Bach JR, Saporito L, et al. Diaphragm pacing and noninvasive respiratory management of amyotrophic lateral sclerosis/motor neuron disease. Muscle Nerve. 2012;46:851-855.

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61.  DiPALS Writing Committee; DiPALS Study Group Collaborators. Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. Lancet Neurol. 2015;14:883-892.

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62.  Bach JR, Martinez D. Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival. Respir Care. 2011;56:744-750.

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63.  Bach JR. Update and perspectives on noninvasive respiratory muscle aids. Part 2: the expiratory aids. Chest. 1994;105:1538-1544.

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64.  Bach JR, Gonçalves MR, Hamdani I, et al. Extubation of patients with neuromuscular weakness: a new management paradigm. Chest. 2010;137:1033-1039.

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65.  Bach JR, Sinquee DM, Saporito LR, et al. Efficacy of mechanical insufflation-exsufflation in extubating unweanable subjects with restrictive pulmonary disorders. Respir Care. 2015;60:477-483.

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66.  Bach JR, Saporito LR, Shah HR, et al. Decanulation of patients with severe respiratory muscle insufficiency: efficacy of mechanical insufflation-exsufflation. J Rehabil Med. 2014;46:1037-1041.

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67.  Bach JR. Quality of life and ethical issues. In: Bach JR. The management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004:331-354.

68.  Bach JR, Gonçalves MR, Hon A, et al. Changing trends in the management of end-stage neuromuscular respiratory muscle failure: recommendations of an international consensus. Am J Phys Med Rehabil. 2013;92:267-277.

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69.  Iodice F, Testa G, Averardi M, et al. Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: management and lessons learned. Neuromuscul Disord. 2015;25:19-23.

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70.  Orrell RW, Copeland S, Rose MR. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev. 2010;(1):CD003278.

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71.  Bach JR. Medical therapies and research. In: Bach JR. Management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004:29-36.

72.  Wagner KR, Fleckenstein JL, Amato AA, et al. A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol. 2008;63:561-571.

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73.  Phillips MF, Quinlivan R. Calcium antagonists for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008;(4):CD004571.

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74.  Buyse GM, Goemans N, van den Hauwe M, et al. Effects of glucocorticoids and idebenone on respiratory function in patients with duchenne muscular dystrophy. Pediatr Pulmonol. 2013;48:912-920.

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75.  Van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007;357:2677-2686.

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76.  Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013;74:637-647.

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77.  Arechavala-Gomeza V, Anthony K, Morgan J, et al. Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. Curr Gene Ther. 2012;12:152-160.

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78.  Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015;14:153-161.

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79.  Ishikawa Y, Miura T, Ishikawa Y, et al. Duchenne muscular dystrophy: survival by cardio-respiratory interventions. Neuromuscul Disord. 2011;21:47-51.

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80.  Bach JR. A comparison of long-term ventilatory support alternatives from the perspective of the patient and care giver. Chest. 1993;104:1702-1706.

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81.  Hawker GA, Ridout R, Harris VA, et al. Alendronate in the treatment of low bone mass in steroid-treated boys with Duchenne's muscular dystrophy. Arch Phys Med Rehabil. 2005;86:284-288.

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82.  Bach JR, Bardach JL. Neuromuscular diseases. In: Sipski ML, Alexander CJ, eds. Sexual function in people with disability and chronic illness: a health practitioner's guide. Gaithersburg, MD: Aspen; 1997:147-160.

83.  Morgenthaler TI, Kapur VK, Brown T, et al; Standards of Practice Committee of the American Academy of Sleep Medicine. Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin. Sleep. 2007;30:1705-1711.

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84.  Bach JR. The management of patients with neuromuscular disease. Philadelphia, PA: Hanley & Belfus; 2004.