Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation. Patients display progressive cerebellar ataxia, dysarthriga, dysphagia, slow saccadic eye movements, and cone photoreceptor loss leading to progressive vision loss. CAG repeat length tends to expand with transmission resulting in dramatic symptoms in offspring sometimes resulting in diagnosis before parents' diagnosis. Awareness of this condition may help in earlier diagnosis and unnecessary testing resulting in more effective counseling for the patient and their family.
Go to Full Text of this Article