Introduction

• Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene.
• Core Manifestations:
  • Cerebellar ataxia in early toddler years.
  • Oculocutaneous telangiectasias in school-aged children.
• Multisystemic Disorder:
  • Neurologic, immunologic, oncologic, respiratory, and endocrinologic involvement.
• Incidence: Ranges from 1:40,000 to 1:300,000 live births.
• Median Survival: ~25 years.To read more, a subscription is needed: Click here to subscribe