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

这种疾病被称为“脊髓小脑型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。

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（去平衡协运动）。

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

得！快速回顾一下～脊髓小脑性是一组遗传性进行性退行性疾病。

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

实际上，目前已鉴定出不同的基因突变；每种突变都会导致不同类型的脊髓小脑性。

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.

这些突变导致小脑脊髓的退行性改变，这会导致进行性运动协障碍、平衡障碍等，称为。

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 型脊髓小脑性或 SCA-1。