Abstract：
BACKGROUND: Developmental disorders associated with Becker muscular dystrophy (BMD), possibly resulting from a lack of dystrophin in the brain, have been reported, but their importance is not fully understood. We report a case of a BMD patient who had been socially withdrawn due to mental retardation and autism spectrum disorder and could not receive appropriate medical services, resulting in delayed detection of severe cardiomyopathy and embolic strokes which developed as complications of BMD.
METHODS: The case is a 41-year-old male. In elementary school, he was the slowest runner in his class and had poor grades. He started missing school due to bullying in junior high school and had been socially withdrawn for 24 years. He developed difficulty walking due to progressive muscle weakness in the extremities and lost ambulation at age 36. At age 41, he was referred to our hospital by public health support services to address his social withdrawal. Muscle biopsy led to the diagnosis of BMD. Psychological examination revealed mild mental retardation and autism spectrum disorder, which may have resulted in social isolation. He had severe cardiomyopathy and asymptomatic cerebral infarction due to heart failure.
CONCLUSIONS: In BMD patients, developmental disorders can potentially hinder access to appropriate medical treatment. BMD is an important differential diagnosis for physically disabled children with developmental disorders. Early intellectual and psychological interventions and evaluation of complications are important for improving patient prognosis and quality of life.
METHODS: The case is a 41-year-old male. In elementary school, he was the slowest runner in his class and had poor grades. He started missing school due to bullying in junior high school and had been socially withdrawn for 24 years. He developed difficulty walking due to progressive muscle weakness in the extremities and lost ambulation at age 36. At age 41, he was referred to our hospital by public health support services to address his social withdrawal. Muscle biopsy led to the diagnosis of BMD. Psychological examination revealed mild mental retardation and autism spectrum disorder, which may have resulted in social isolation. He had severe cardiomyopathy and asymptomatic cerebral infarction due to heart failure.
CONCLUSIONS: In BMD patients, developmental disorders can potentially hinder access to appropriate medical treatment. BMD is an important differential diagnosis for physically disabled children with developmental disorders. Early intellectual and psychological interventions and evaluation of complications are important for improving patient prognosis and quality of life.
摘要：
背景：与Becker肌营养不良（BMD）相关的发育障碍，可能是由于大脑中缺乏肌营养不良蛋白，据报道，但是他们的重要性还没有被完全理解。我们报告了一例BMD患者，由于智力低下和自闭症谱系障碍而社交退缩，无法接受适当的医疗服务，导致严重心肌病和栓塞性卒中的延迟检测，这些进展为BMD并发症。
方法：病例为一名41岁男性。在小学，他是班上跑得最慢的，成绩很差。由于初中时的欺凌行为，他开始缺课，并在社会上退缩了24年。由于四肢进行性肌肉无力，他出现行走困难，并在36岁时失去了行走能力。41岁时，他被公共卫生支持服务机构转诊到我们医院，以解决他的社会退缩问题。肌肉活检导致BMD的诊断。心理检查显示轻度智力低下和自闭症谱系障碍，这可能导致社会孤立。他因心力衰竭而患有严重的心肌病和无症状性脑梗死。
结论：在BMD患者中，发育障碍可能会阻碍获得适当的医疗。BMD是患有发育障碍的肢体残疾儿童的重要鉴别诊断。早期的智力和心理干预以及并发症的评估对于改善患者的预后和生活质量非常重要。
方法：病例为一名41岁男性。在小学，他是班上跑得最慢的，成绩很差。由于初中时的欺凌行为，他开始缺课，并在社会上退缩了24年。由于四肢进行性肌肉无力，他出现行走困难，并在36岁时失去了行走能力。41岁时，他被公共卫生支持服务机构转诊到我们医院，以解决他的社会退缩问题。肌肉活检导致BMD的诊断。心理检查显示轻度智力低下和自闭症谱系障碍，这可能导致社会孤立。他因心力衰竭而患有严重的心肌病和无症状性脑梗死。
结论：在BMD患者中，发育障碍可能会阻碍获得适当的医疗。BMD是患有发育障碍的肢体残疾儿童的重要鉴别诊断。早期的智力和心理干预以及并发症的评估对于改善患者的预后和生活质量非常重要。
