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Adult Polyglucosan Body Disease.

Authors

Klein CJ1.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Apr 2 [updated 2013 Dec 19].

Author information

1
Associate Professor of Neurology, Mayo Clinic, Rochester, Minnesota

Excerpt

CLINICAL CHARACTERISTICS:

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).

DIAGNOSIS/TESTING:

Diagnosis is based on clinical examination, MRI of the brain and spinal cord, sural nerve biopsy showing characteristic polyglucosans within nerve tubes, assay of glycogen brancher enzyme (GBE) activity in skin fibroblasts or muscle tissue, and molecular genetic testing of GBE1, the only gene in which pathogenic variants are known to cause APBD.

MANAGEMENT:

Treatment of manifestations: Optimally, care is provided by a team including specialists in physical medicine rehabilitation, urology, and behavioral neurology or psychology. Management focuses on use of gait safety devices; antispasmodic bladder medications and in-and-out bladder catheterization or an indwelling bladder catheter; behavioral modification and cognitive aids as needed. Prevention of secondary complications: Gait aids to prevent falls and urologic management to prevent urosepsis. Surveillance: Periodic assessment of bladder function, gait, sensation in the distal lower extremities, and cognition.

GENETIC COUNSELING:

APBD is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known; however, requests for prenatal testing for adult-onset conditions such as APBD are uncommon.

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