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.

Unfortunately, there is no cure for spinocerebellar ataxia 7 (SCA7). Management of affected individuals is generally supportive because there is currently no known treatment to delay or stop the progression of the disease. Exercise and/or physical therapy has not been shown to help with incoordination or muscle weakness, but individuals with SCA7 should try to maintain active. Canes and walkers can help prevent falls. Modification of the home with conveniences such as grab bars, raised toilet seats, and ramps to accommodate motorized chairs may be necessary. Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria (difficulty speaking). Weighted eating utensils and dressing hooks can help maintain a sense of independence. When dysphagia (difficulty swallowing) becomes troublesome, video esophagrams (a study using video x-rays of the esophagus) can identify the consistency of food least likely to trigger aspiration.

National Ataxia Foundation
600 Highway 169 South
Suite 1725
Minneapolis, MN 55426
Telephone: +1-763-553-0020
Fax: +1-763-553-0167
E-mail: naf@ataxia.org
Website: https://ataxia.org/

Source: https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7#:~:text=Spinocerebellar%20ataxia%207%20(SCA7)%20is,coordination%20center%20of%20the%20brain).