The disorder is known as spino-cerebellar ataxia type 1, or SCA-1.

这种疾病被称为“小脑型共济失调1型(SCA-1)”。

If this happens, it causes Angelman syndrome, which results in severe intellectual diability, seizures, and ataxia.

如果此基因突变，则导致安格尔曼综合征，患者出现严重的智力残疾、癫痫和共济失调。

Alright as a quick recap, spinocerebellar ataxia is a group of progressive neurodegenerative diseases of genetic origin.

！回一～小脑性共济失调是一组遗传性进行性神经退行性疾病。

Motor symptoms can include muscle weakness, muscle spasms, tremors, and ataxia, which is a loss of balance and coordination.

运动症状包括肌无力、肌痉挛、震颤和共济失调（失去平衡和协调运动）。

Heavy metal poisoning would explain, the ataxia and the seizures.

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In fact, many different gene mutations have been identified each of which is known to cause different types of spinocerebellar ataxia.

实际上，目前已经鉴定出不同的基因突变；每种突变都会导致不同类型的小脑性共济失调。

And he's made modest improvement in his ataxia, which is loss of -- Loss of body movement. Yes.

他的运动失调也有所好转 这个是指...肢体运动障碍 是的。

These mutations result in degenerative changes in the cerebellum and often in the spinal cord which causes progressive problems with coordination and balance known as ataxia.

这些突变导致小脑和的退行性改变，这会导致进行性运动协调障碍、平衡障碍等，称为共济失调。

They typically die around 20 years later, of causes related to breathing or swallowing problems. The disorder is known as spino-cerebellar ataxia type 1, or SCA-1.

他们通常会在大约 20 年后死于与呼吸或吞咽问题有关的原因。这种疾病被称为 1 型小脑性共济失调或 SCA-1。