severe Canavan disease

ORPHA: 314911

Contents

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

Overview

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia

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 severe Canavan disease, sourced from HPO and Orphanet clinical annotations.

MacrocephalyHypotoniaGlobal developmental delayMotor delayAbsent speechPoor head controlInability to walkFunctional motor deficitElevated brain N-acetyl aspartate level by MRSVisual fixation instabilityElevated urine N-acetylaspartic acid levelOptic atrophyIrritabilitySeizureLethargyHyperreflexiaJoint stiffnessWeak cryVomitingGastroesophageal refluxPoor suckBilateral tonic-clonic seizureSleep disturbanceBabinski signFeeding difficultiesCerebral white matter atrophyOral-pharyngeal dysphagiaBlindnessSpasticityMegalencephalyNasogastric tube feedingPseudobulbar signsGastrostomy tube feeding in infancyDecerebrate rigidity

Classification & Codes

Orphanet Code

ORPHA:314911

severe Canavan disease

Orphanet	`ORPHA:314911`
Treatments	0 drug(s)
Symptoms on record	34 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO