juvenile Huntington disease
ORPHA: 248111
Overview
Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with juvenile Huntington disease, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorDepressionDementiaIrritabilityHyperactivitySeizureAtaxiaDystoniaHyperreflexiaWeight lossRigidityGait ataxiaBradykinesiaChoreaBroad-based gaitAbnormal cerebral white matter morphologyAbnormal involuntary eye movementsOral motor hypotoniaNeuronal loss in basal gangliaCerebellar atrophyMyoclonusProgressive cerebellar ataxiaVentriculomegalyCerebellar vermis atrophy
Classification & Codes
Orphanet Code
ORPHA:248111juvenile Huntington disease
| Orphanet | ORPHA:248111 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO