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<p>Duchenne muscular dystrophy, the most prevalent form of muscular dystrophy, is characterized by neurological complications including cognitive impairment, neuropsychiatric disorders, and epilepsy. Neuroimaging investigations have demonstrated structural brain alterations, hemodynamic disturbances, and metabolic dysregulation in individuals with Duchenne muscular dystrophy. These neurological impairments are primarily attributed to cerebral dystrophin deficiency and subsequent downstream molecular/cellular abnormalities, including altered excitation-inhibition balance, blood-brain barrier disruption, calcium dysregulation, and neuroinflammation. Current therapeutic strategies focus on two main&#xa0;methods: (1) enhancing brain expression of truncated dystrophin; (2) addressing downstream consequences of dystrophin loss. This review synthesizes recent literature on the neurological manifestations of Duchenne muscular dystrophy, providing a theoretical framework to inform clinical management strategies.</p>

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Neurological impairments in Duchenne muscular dystrophy: A comprehensive review

  • 期刊论文

  • 发表日期：

    2025年9月4日

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  • Xiao-fang Zhang,
  • Wenguang Hu,
  • Jie Hu

摘要

Duchenne muscular dystrophy, the most prevalent form of muscular dystrophy, is characterized by neurological complications including cognitive impairment, neuropsychiatric disorders, and epilepsy. Neuroimaging investigations have demonstrated structural brain alterations, hemodynamic disturbances, and metabolic dysregulation in individuals with Duchenne muscular dystrophy. These neurological impairments are primarily attributed to cerebral dystrophin deficiency and subsequent downstream molecular/cellular abnormalities, including altered excitation-inhibition balance, blood-brain barrier disruption, calcium dysregulation, and neuroinflammation. Current therapeutic strategies focus on two main methods: (1) enhancing brain expression of truncated dystrophin; (2) addressing downstream consequences of dystrophin loss. This review synthesizes recent literature on the neurological manifestations of Duchenne muscular dystrophy, providing a theoretical framework to inform clinical management strategies.