This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.
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