Sinha Rupam, Sarkar Soumyabrata, Khaitan Tanya, Dutta Soumyajit
Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Haldia, West Bengal, India.
J Family Med Prim Care. 2017 Jul-Sep;6(3):654-656. doi: 10.4103/2249-4863.222015.
Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.
肌营养不良症是一组临床症状多样的疾病,它们都具有进行性肌肉无力的临床特征。杜氏肌营养不良症(DMD)是儿童中最常见的X连锁隐性遗传性肌营养不良症,发病于幼儿期,患病男孩的特征为近端肌无力和小腿肥大。通常会出现运动发育迟缓,最终导致需依靠轮椅行动,随后因心脏或呼吸并发症而过早死亡。尽管新疗法仍旨在治愈这种毁灭性疾病,但皮质类固醇疗法和间歇性正压通气等治疗方式已在功能、行走能力、生活质量和预期寿命方面带来了改善。在此,我们报告一例12岁男性杜氏肌营养不良症患者,其具有显著的临床和口腔表现。