adult polyglucosan body disease

MeSH: C564878ORPHA: 206583

Overview

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia

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 adult polyglucosan body disease, sourced from HPO and Orphanet clinical annotations.

Neurogenic bladderUrinary incontinenceAtypical behaviorDementiaIntellectual disabilityAtaxiaSpasticityHemiparesisGait disturbanceMuscle weaknessLimitation of joint mobilityAbnormality of extrapyramidal motor functionUrinary bladder sphincter dysfunctionDistal sensory impairmentEMG abnormalityAbnormal pyramidal signPeripheral neuropathySkin ulcer

Classification & Codes

MeSH Code

C564878

Orphanet Code

ORPHA:206583
adult polyglucosan body disease
MeSHC564878
OrphanetORPHA:206583
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO