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EHDN 2022 | Monitoring children at risk for juvenile Huntington’s disease

Ferdinando Squitieri, MD, PhD, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy, discusses the importance of careful observation of children at risk of Huntington’s disease. A diagnosis of juvenile Huntington’s disease (JHD) requires a clinical presentation consistent with JHD (including declining school performance, seizures, gait disturbance, rigidity, and changes in behavior), followed by a genetic test to confirm the presence of a mutation in the huntingtin gene. Monitoring children in families affected by HD is important to avoid delayed diagnosis or misdiagnosis. This interview took place during the European Huntington’s Disease Network 2022 Plenary Meeting.

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