Consider Duchenne muscular dystrophy in boys with delayed motor milestones, positive Gowers’ sign, abnormal gait, muscle pains, calf hypertrophy, unexplained elevated liver enzymes, learning difficulties, behavioural problems, or speech and language delay
Test for creatine kinase levels if you suspect any neuromuscular condition. Refer children with raised creatine kinase promptly to a neuromuscular specialist
Early diagnosis means early access to treatment, improved outcomes, and better informed family planning
Early genetic diagnosis is important, as it can enable entry into appropriate clinical trials
Where patients have breathlessness, palpitations and arrhythmias, morning headaches, and repeated chest infections or weight loss, suspect deterioration and refer for prompt specialist review
Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by which time muscle function has already declined (box 1, case study). Delayed diagnosis of DMD can be devastating for patients and their families. Outcomes for people with DMD can be improved with optimum care at the earliest opportunity, and patients are now living into their fourth decades.34 Early diagnosis also enables parents to make informed decisions about family planning and can provide access to innovative treatments and clinical trials. International guidelines for diagnosis and management of DMD have been established by the DMD Care Considerations Working Group.567
Patient A presented with speech delay at age 2 and poor fine and gross motor skills at 2.5 years. He had been referred to several different teams for these symptoms, including physiotherapy for his poor motor skills and behavioural psychology. He initially walked at …

中文翻译：

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杜氏肌营养不良症。

考虑男孩推迟电机的里程碑，正高尔斯的标志，步态异常，肌肉酸痛，小腿肥大，不明原因的肝酶升高，学习困难，行为问题，或言语和语言发育迟缓杜氏肌营养不良症
测试肌酸激酶水平，如果你怀疑任何神经肌肉疾病。立即将肌酸激酶升高的儿童转诊给神经肌肉专家
早期诊断意味着及早获得治疗，改善结局和更好地进行计划生育
早期遗传学诊断很重要，因为它可以使您进入适当的临床试验
如果患者出现呼吸困难，心和心律不齐，早晨头痛以及反复的胸部感染或体重减轻，则怀疑病情恶化，并应立即寻求专家意见
复诊杜兴肌营养不良症（DMD）是一种进行性且致残的神经肌肉疾病，通常被诊断为晚期。1在英国，平均诊断年龄在过去30年中一直保持不变，目前约为4.3岁。2从首次父母关心到诊断DMD平均需要1.6年，2到那时肌肉功能已经下降（专栏1，案例研究）。DMD的延迟诊断可能会给患者及其家人带来灾难性的后果。尽早提供最佳护理，可以改善DMD患者的治疗效果，而患者正处在他们的第四个十年。3 4早期诊断还使父母能够做出有关计划生育的知情决定，并可以提供创新的治疗方法和临床试验。DMD护理注意事项工作组已经建立了DMD诊断和管理的国际准则。5 6 7
病人A在2岁时出现言语延迟，在2.5岁时出现较差的精细和粗略的运动技能。由于这些症状，他曾被转介到几个不同的团队，包括因运动技能和行为心理较差而进行的理疗。他最初走在…