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adult polyglucosan body disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
Mondo Term and Equivalent IDs
MONDO:0009897:  adult polyglucosan body disease
GARD:0000108: 
MESH:C564878: 
Orphanet:206583: 
SCTID:721099001: