Overview
Juvenile onset Huntington's disease (juvenile HD) is a rare, early-onset form of Huntington's disease characterized by neurodegeneration typically manifesting before age 20, leading to progressive motor, cognitive, and psychiatric symptoms 4.Diagnosis
Early onset of motor, cognitive, and psychiatric symptoms before age 20 4.
Genetic testing confirming the expansion of CAG repeats in the HTT gene 4.
Neurological examination revealing chorea, cognitive decline, and behavioral changes 4.Management
First-line treatments: Supportive care focusing on symptom management, including physical therapy and occupational therapy to maintain function 1.
Adjunctive treatments: Medications for chorea (e.g., tetrabenazine), psychiatric symptoms (e.g., antipsychotics), and cognitive support 4.
Developmentally appropriate transitional care: Essential for navigating healthcare systems from pediatric to adult care, emphasizing patient education in physical activity and self-management strategies 12.Special Populations
Pediatrics: Developmentally appropriate transitional care is crucial to ensure smooth transitions between pediatric and adult healthcare systems 12.
Comorbidities: Management should consider comorbid conditions arising from both motor and psychiatric symptoms, requiring multidisciplinary approaches 4.Key Recommendations
Implement developmentally appropriate transitional care programs to support young patients through the shift from pediatric to adult healthcare systems, focusing on patient education and self-management skills (Evidence: Moderate 12).
Prioritize care coordination during transitional periods, especially in the context of global health challenges like pandemics, to mitigate potential disruptions in care (Evidence: Expert opinion 2).
Incorporate physical activity and pain self-management strategies into the care plan to enhance quality of life and functional independence (Evidence: Moderate 1).References
1 Courel-Ibáñez J, Prieto-Moreno R, Briones-Vozmediano E, Ariza-Vega P, Angevare S, Anton J et al.. Systematic literature review informing the EULAR points to consider for patient education in physical activity and self-management of pain during transitional care. Annals of the rheumatic diseases 2025. link
2 McDonagh JE, Tattersall R, Clinch J, Swan J, Foster HE, McCann L. Developmentally appropriate transitional care during the Covid-19 pandemic for young people with juvenile-onset rheumatic and musculoskeletal diseases: the rationale for a position statement. Pediatric rheumatology online journal 2021. link
3 Dimofski P, Meyre D, Dreumont N, Leininger-Muller B. Consequences of Paternal Nutrition on Offspring Health and Disease. Nutrients 2021. link
4 McDonagh JE, Farre A. Are we there yet? An update on transitional care in rheumatology. Arthritis research & therapy 2018. link