This 17 year old man first had some difficulty seeing the blackboard at age 11. A year later his acuity had fallen but his Goldman visual field remained good. At age 16 he complained of photophobia and some difficulty with his balance. His speech was also somewhat abnormal at that visit. The following year he had further loss of acuity and some additional progression of his dysarthria and balance.
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Spinocerebellar Ataxia | ATXN7 | Repeat Expansion | AD |