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Abstract:

Kennedy's disease (KD) is a rare X-linked recessive neurodegenerative disease. Although KD progresses slowly, it leads to weakness and atrophy of the limb and bulbar-innervated muscles, ultimately resulting in gradual loss of walking ability, as well as speech, swallowing, and respiratory function impairments. The primary causes of death in patients are pneumonia caused by aspiration, respiratory failure, or bedsore caused by long-term bed rest. Early comprehensive intervention may help delay disease progression and improve patients' quality of life. To standardize and promote the diagnosis and management of KD in China, this consensus summarizes recent progress in the understanding of its clinical manifestations, neurophysiological findings, muscle biopsy characteristics, genetic testing, treatment strategies, and genetic interventions for clinical reference.

Key words: Kennedy's disease, Spinal and bulbar muscular atrophy, Diagnosis, Treatment, Expert consensus

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