GTR Home > Conditions/Phenotypes > Polyglucosan body disease, adult

Summary

Excerpted from the GeneReview: Adult Polyglucosan Body Disease
Adult polyglucosan body disease (APBD) is characterized by adult-onset 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, and mild cognitive difficulties (often executive dysfunction).

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant 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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