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探索亨廷顿病患者的步态,平衡和身体活动之间的关系

Lauren E Tueth1, Allison M Haussler1, Sidney T Baudendistel1

  • 1Program in Physical Therapy, Washington University in St Louis School of Medicine, St Louis, MO, USA.

Journal of Huntington's disease
|February 20, 2025
PubMed
概括

患有亨廷顿病 (HD) 的人表现出步态和平衡受损,与认知缺陷有关. 平衡信心与表现无关,这表明HD患者可能没有意识到运动障碍.

关键词:
亨廷顿病就是亨廷顿病.这是一个平衡的平衡,平衡的平衡.认知障碍是一种认知障碍.身体活动 身体活动

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...