A genetic disorder where mutation of the ATXN1 gene causes difficulties in maintaining balance and coordination during movement is known as Spinocerebellar Ataxia. The symptoms of this disorder include muscle stiffness, impaired eye muscle function, difficulties in swallowing and speech. This disorder can be passed on to an offspring if any one of the parents is affected.
HOW IS SPINOCEREBELLAR ATAXIA DIAGNOSED?
As the disease progresses, the shrinking of cerebellum (which is a characteristic of this disease) is more noticeable.