Spinocerebellar ataxia (SCA) is a progressive, degenerative disease with multiple types. It is characterized by problems with coordination of hands, speech, and eye movements. SCA frequently results in atrophy of the cerebellum, the part of the brain that controls coordination of movements. The onset of symptoms usually occurs after the age of 18.
The ataxia can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Risk assessment of at-risk relatives
3. Differential diagnosis between different forms of spinocerebellar ataxia
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling
Smith CO’S et al. Spinocerebellar Ataxia: Making an Informed Choice About Genetic Testing. http://depts.washington.edu/neurogen November 1999 (Updated November 2004)
Subramony SH and Ashizawa T. Spinocerebellar Ataxia Type 1. GeneReviews® 1998 October 1 (Updated 2014 July 3).