Sandhoff disease, infantile form

ORPHA: 3091551 Treatment Available

Contents

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

Overview

human disease

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
miglustat Orphan	Oral capsule, 100mg	FDA Approved, EMA Approved	9	14d

Clinical Presentation

Signs and symptoms associated with Sandhoff disease, infantile form, sourced from HPO and Orphanet clinical annotations.

Reduced beta-hexosaminidase B activitySeizureHyperreflexiaDevelopmental regressionAxial hypotoniaNeurodevelopmental delaySpasticityMyoclonusBilateral tonic-clonic seizureCerebral cortical atrophyExaggerated startle responseCNS hypomyelinationProgressive macrocephalyHyperactive patellar reflexCherry red spot of the maculaAbnormal thalamic MRI signal intensityMyoclonic seizureCoarse facial featuresHepatosplenomegalyMitral regurgitationHyperacusisBlue nevusMitral valve prolapse

Classification & Codes

Orphanet Code

ORPHA:309155

Sandhoff disease, infantile form

Orphanet	`ORPHA:309155`
Treatments	1 drug(s)
Symptoms on record	23 signs
Status	published

Treatment Summary

miglustat· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO