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

这种疾病被称为“脊髓小脑济失调1(SCA-1)”。

He has fever, sweats, tingling in his lips, fingers and toes, mood swings and lack of coordination.

他有发热，出汗，舌、手指、脚趾麻木，感情绪波动和济失调。

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

得！快速回顾一下～脊髓小脑性济失调是一组遗传性进行性神经退行性疾病。

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，患者出现严力残疾、癫痫和济失调。

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、震颤和济失调（失去平衡和协调运动）。

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

际上，目前已经鉴定出不同基因突变；每种突变都会导致不同类脊髓小脑性济失调。

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脊髓退行性改变，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原因。这种疾病被称为 1 脊髓小脑性济失调或 SCA-1。