Current Concepts in the Management of Duchenne Muscular Dystrophy

Springer Science and Business Media LLC - Tập 1 - Trang 65-71 - 2013
Robert J. Rinaldi1, Matthew P. Mayer1, Michael R. Dichiaro2
1Section of Pediatric Rehabilitation Medicine, The Children’s Mercy Hospitals and Clinics, Kansas City, USA
2Department of Pediatric Rehabilitation Medicine, Children’s Hospital Colorado, Aurora, USA

Tóm tắt

The management of Duchenne muscular dystrophy (DMD) has seen dramatic change over the past two decades. Improvements in clinical monitoring of disease progression, management of cardiac and pulmonary complications, and nutritional intervention have all led to decreases in co-morbidity commonly associated with DMD, and, as a consequence, quality of life and life expectancy of individuals with DMD have both continued to improve. This review will update the reader on current trends and recent advances in the diagnosis, management, and treatment of DMD, with a focus on reviewing pertinent current literature.

Tài liệu tham khảo

• Fischmann A, Hafner P, Gloor M, et al. Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. J Neurol. 2012. doi:10.1007/s00415-012-6733-x This study tests MRI as an objective measure to anticipate functional decline and loss of ambulation. Predictive tools such as this provide important information for patients, families and clinical trials.

Arpan I, Forbes SC, Lott DJ, et al. T(2) mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: a cross-sectional study of lower leg muscles in 5-15-year-old boys with Duchenne muscular dystrophy. NMR Biomed. 2012. doi:10.1002/nbm2851

•• Davidson ZE, Truby H. A review of nutrition in Duchenne muscular dystrophy. J Hum Nutr Diet. 2009, 22(5):383–93. This study provides a broad, evidence based overview of multiple nutritional considerations in children with DMD. It can be utilized by the provider to create general nutritional management guidelines in their practice.

Finder JD, Birnkrant D, Carl J, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170:456–65.

Balaban B, Matthews DJ, Clayton GH, Carry T. Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long term effect. Am J Phys Med Rehabil. 2005;84:843–50.

Buyse GM, Goemans N, van den Hauewe M, Meier T. Effects of glucocorticoids and idebenone on respiratory function in patients with Duchenne muscular dystrophy. Pediatr Pulmonol. 2012. doi:10.1002/ppul.22688

•• Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve 2012; 45(6):796–802. There has been significant discussion about the most appropriate timing for initiating the use of corticosteroid treatment, with current recommendations to discuss initiation when motor gains are often reaching a plateau between ages 4-6. In this study of boys with DMD, 4 of the 5 who began treatment with corticosteroids between 2-4 years of age were ambulatory at ages 17.0-18.5 years, which argues for the benefit of early initiation of corticosteroid treatment, and for the importance of long term studies to investigate the timing of initiation.