Sandhoff disease, juvenile form

ORPHA: 309162

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease

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 Sandhoff disease, juvenile form, sourced from HPO and Orphanet clinical annotations.

Reduced beta-hexosaminidase B activityAtaxiaDysarthriaCerebellar atrophyGait disturbanceFailure to thriveIncoordinationSkeletal muscle atrophyProximal muscle weaknessAbnormal pyramidal signCognitive impairmentUrinary incontinenceSeizureDiarrheaDysphagiaConstipationCerebral atrophyAbnormality of extrapyramidal motor functionFasciculationsDistal muscle weaknessLimb joint contractureAcroparesthesiaInsomniaAutistic behaviorPes cavusExcessive daytime somnolence

Classification & Codes

Orphanet Code

ORPHA:309162

Sandhoff disease, juvenile form

Orphanet	`ORPHA:309162`
Treatments	0 drug(s)
Symptoms on record	26 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO