A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders

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 We report a case of a BMD patient who had been socially withdrawn due to mental retardation and autism spectrum disorder and could not receive appropriate medical services, resulting in delayed detection of severe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. Case report: 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 He started missing school due to bullying in junior high school and had been socially withdrawn for 24 years.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. Conclusion 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.