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:248111
juvenile Huntington disease
OrphanetORPHA:248111
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO