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spielmeyer-vogt disease

/ˈʃpiːlmaɪər ˈvoʊkt dɪˈziːz/

翻译: 一种罕见的遗传性神经退行性疾病,为巴滕病(神经元蜡样脂褐质沉积症)的青少年型,由CLN3基因突变引起,通常起病于儿童期,表现为进行性视力丧失、运动技能退化和认知功能下降。

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/ˈʃpiːlmaɪər ˈvoʊkt dɪˈziːz/formalmedical
  • zh一种罕见的遗传性神经退行性疾病,为巴滕病(神经元蜡样脂褐质沉积症)的青少年型,由CLN3基因突变引起,通常起病于儿童期,表现为进行性视力丧失、运动技能退化和认知功能下降。

A rare, inherited neurodegenerative disorder characterized by progressive loss of vision, motor skills, and cognitive function, typically beginning in childhood. It is a form of Batten disease, caused by a genetic mutation affecting the CLN3 gene.

  1. Juvenile Batten diseaseC2formal

    A rare, inherited neurodegenerative disorder that typically begins in childhood, characterized by vision loss, seizures, and progressive cognitive and motor decline.

    zh青少年型巴滕病

    • Spielmeyer-Vogt disease is a form of neuronal ceroid lipofuscinosis.
    • Children with this disease often experience rapid vision loss.
    • There is currently no cure for Spielmeyer-Vogt disease.