adult polyglucosan body disease
Findings
No curated finding names adult polyglucosan body disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009897), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cognitive impairmentHPOHP:0100543
- 7 of 7 reported patients
- Distal sensory impairmentHPOHP:0002936
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Spastic paraplegiaHPOHP:0001258
- 7 of 7 reported patients
- Urinary incontinenceHPOHP:0000020
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Absent Achilles reflexHPOHP:0003438
- 6 of 7 reported patients
Show the remaining 12
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Urinary bladder sphincter dysfunctionHPOHP:0002839
- Very frequent (80% to 99% of cases)
- ParesthesiaHPOHP:0003401
- 5 of 7 reported patients
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Skin ulcerHPOHP:0200042
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GBE1HGNC:4180
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: adult polyglucosan body disease
- Also called
- APBD