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GTR Home > Conditions/Phenotypes > Adult polyglucosan body disease

Adult polyglucosan body disease

Synonyms
POLYGLUCOSAN BODY DISEASE, ADULT FORM
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, autonomic dysfunction (associated with orthostatic hypotension and constipation), and mild cognitive difficulties (often executive dysfunction). Some affected individuals without classic GBE1-APBD have atypical phenotypes including Alzheimer disease-like dementia and axonal neuropathy, stroke-like episodes, and diaphragmatic failure; others may have a history of infantile liver disease. [from GeneReviews]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APBD, GBE, GSD4, GBE1
    Summary: 1,4-alpha-glucan branching enzyme 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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