Recognizing repeat expansion disorders in clinical practice

The authors aim to highlight the importance of recognizing repeat expansion disorders in clinical practice, emphasizing the role of healthcare providers in identifying early symptoms and making timely referrals for genetic evaluation. They discuss the variability in clinical presentations and the molecular characteristics that influence disease severity, underscoring the need for awareness of these conditions to facilitate early intervention and support for affected families. The paper also notes the potential for emerging gene-targeted therapies to modify disease progression.