SR39

Spinocerebellar Ataxia (IID4)

Male

Male

SR39

Spinocerebellar Ataxia (IID4)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS

History

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.

Pedigree

Age at visit: 13 years
Age at visit: 15 years
Age at visit: 17 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Spinocerebellar Ataxia ATXN7 Repeat Expansion   AD
Gene:
Allele 1:
Repeat Expansion
Allele 2:
 
Inheritance:
AD
Cite this case