Myoclonus in Ataxia-Telangiectasia

  • Pichet Termsarasab
  • Amy C Yang
  • Steven J Frucht


Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.

Case Report: We report two AT patients with prominent myoclonus in relative isolation, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous truncating mutation, c.5908C>T (p.Q1970*) in exon 38 of the ATM gene which has been previously reported as a founder mutation in the Costa Rican population.

Discussion: Myoclonus can be a predominant or presenting feature in AT, even without dystonia.