gangliosidosis GM1

MeSH: D016537ORPHA: 3541 Treatment Available

Contents

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

Overview

lysosomal storage 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 gangliosidosis GM1, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaAbnormal scrotum morphologyMacroglossiaGingival overgrowthCoarse facial featuresMandibular prognathiaLong philtrumMacrotiaBroad nasal tipDepressed nasal ridgeStrabismusBlindnessNystagmusOptic atrophyAbnormal diaphysis morphologyAbnormal metaphysis morphologyAbnormality of the skinSeizureAtaxiaHypotoniaSpasticityTremorHyperreflexiaJoint stiffnessCongestive heart failureSplenomegalyWeight lossFrontal bossingRecurrent respiratory infectionsGeneralized hirsutismInfectious encephalitisScoliosisSkeletal dysplasiaArthralgiaHyperlordosisAbnormal form of the vertebral bodiesShort statureGanglioside accumulationDepressed nasal bridgeAbnormal epiphysis morphologyGeneralized dystoniaCorneal opacityAbnormal retinal vascular morphologyAplasia/Hypoplasia of the abdominal wall musculatureCherry red spot of the maculaAbnormality of movementCamptodactyly of fingerCoarse metaphyseal trabecularizationAbnormal heart morphologyAbnormality of extrapyramidal motor functionAbnormal cerebral white matter morphologyAbnormality of the skeletal systemAspiration pneumoniaBrain imaging abnormalityCardiomyopathyCognitive impairmentDecerebrate rigidityDecreased beta-galactosidase activityDevelopmental regressionDysostosis multiplexDysphagiaDystoniaEncephalomalaciaFailure to thriveFeeding difficultiesGait disturbanceGastroesophageal refluxGastroschisisGastrostomy tube feeding in infancyGeneralized hypotoniaBilateral tonic-clonic seizure with generalized onsetGlobal developmental delayHepatosplenomegalyHirsutismHydrops fetalisKyphosisLimb undergrowthLow-set earsMorphological central nervous system abnormalityNarrow mouthAbnormal speech patternOral aversionPatent ductus arteriosusPlatyspondylyPremature birthRetinopathy of prematurityThickened skinUnsteady gaitVentricular septal defect

Classification & Codes

MeSH Code

D016537

Orphanet Code

ORPHA:354

gangliosidosis GM1

MeSH	`D016537`
Orphanet	`ORPHA:354`
Treatments	1 drug(s)
Symptoms on record	89 signs
Status	published

Treatment Summary

miglustat· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO