Atypical Ataxia-Telangiectasia with Cervical Dystonia: A Case Report

Abstract

Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder. A minority of patients can present with lateonset atypical manifestations due to unknown mechanisms. This can lead to uncommon signs and symptoms, such as dystonic head movements. We report a 26-year-old woman with atypical ataxia telangiectasia who presented with cervical dystonia. Alpha-fetoprotein levels in the serum were found to be elevated in laboratory tests, and genetic testing for the ATM gene provided the definitive diagnosis.