glycogen storage disease II

MeSH: D006009ORPHA: 365

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 glycogen storage disease II, sourced from HPO and Orphanet clinical annotations.

Gait disturbanceAbnormal internal carotid artery morphologyFlexion contractureBowel incontinenceMotor axonal neuropathyCognitive impairmentAtelectasisMuscle weaknessProgressive proximal muscle weaknessOligosacchariduriaDecreased circulating acid maltase activityHypomimic faceDelayed speech and language developmentHyporeflexiaMotor delayAreflexiaTongue fasciculationsFailure to thriveGrowth delayCardiomegalyLeft ventricular hypertrophyRespiratory insufficiencyRecurrent respiratory infectionsHepatomegalyRespiratory insufficiency due to muscle weaknessExertional dyspneaElevated circulating creatine kinase concentrationMyalgiaGowers signEMG: myopathic abnormalitiesExercise intoleranceDifficulty climbing stairsLower limb muscle weaknessFeeding difficulties in infancyRespiratory tract infectionFatigueIncreased circulating lactate dehydrogenase concentrationHeart murmurGlycogen accumulation in muscle fiber lysosomesElevated circulating alanine aminotransferase concentrationCamptocormiaMacroglossiaTongue muscle weaknessFacial hypotoniaHearing impairmentPtosisOsteoporosisDysarthriaHypertrophic cardiomyopathyDysphagiaRespiratory distressTransient ischemic attackInability to walkVasculitisScoliosisRespiratory failureHyperlordosisGeneralized muscle weaknessDilatation of the cerebral arteryShortened PR intervalImpaired masticationCranial nerve paralysisFloppy infantDiaphragmatic weaknessSleep apneaChronic painThoracic aortic aneurysmOrthopneaFatigable weakness of swallowing musclesFatigable weakness of respiratory musclesBasilar artery calcificationLeft ventricular outflow tract obstruction

Classification & Codes

MeSH Code

D006009

Orphanet Code

ORPHA:365

glycogen storage disease II

MeSH	`D006009`
Orphanet	`ORPHA:365`
Treatments	0 drug(s)
Symptoms on record	72 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO