Sandhoff disease, adult form

ORPHA: 309169

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, adult form, sourced from HPO and Orphanet clinical annotations.

Reduced beta-hexosaminidase B activitySpasticityDysarthriaMental deteriorationTremorDysphagiaGait ataxiaSensory axonal neuropathyUpper limb muscle weaknessProximal lower limb muscle weaknessAnxietyReduced tendon reflexesDystoniaFasciculationsElevated circulating creatine kinase concentrationMuscle spasmFocal dystoniaStutteringMuscle fiber atrophy

Classification & Codes

Orphanet Code

ORPHA:309169

Sandhoff disease, adult form

Orphanet	`ORPHA:309169`
Treatments	0 drug(s)
Symptoms on record	19 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO