Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Intellectual impairment
Always present (100%)HP:0100543
Spastic paraplegia
Always present (100%)HP:0001258
Absent Achilles reflex
Very frequent (80-99%)HP:0003438
Corticospinal signs
Very frequent (80-99%)HP:0007256
Gait disturbance
Very frequent (80-99%)HP:0001288
Hemiparesis
Very frequent (80-99%)HP:0001269
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Lack of bladder control due to nervous system injury
Very frequent (80-99%)HP:0000011
Muscle weakness
Very frequent (80-99%)HP:0001324
Neuropathy
Very frequent (80-99%)HP:0009830
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Sphincter disturbances
Very frequent (80-99%)HP:0002839
Urinary incontinence
Very frequent (80-99%)HP:0000020
Behavioural disorders
Frequent (30-79%)HP:0000708
Loss of distal sensation
Frequent (30-79%)HP:0002936
Open skin sore
Frequent (30-79%)HP:0200042
Paresthesia
Frequent (30-79%)HP:0003401
Abnormal electromyography finding
Occasional (5-29%)HP:0003457
Ataxia
Occasional (5-29%)HP:0001251
Decrease in blood pressure upon standing up
Occasional (5-29%)HP:0001278
Elevated csf protein
Occasional (5-29%)HP:0002922
Extrapyramidal dysfunction
Occasional (5-29%)HP:0002071
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Muscle spasm
Occasional (5-29%)HP:0003394
Progressive dementia
Occasional (5-29%)HP:0000726
Abnormal shape of upper motor neuron
HP:0002127
Abnormality of the cerebral white matter
HP:0002500
Peripheral axonal neuropathy
HP:0003477
Quadriparesis
HP:0002273
Quick Facts
- SNOMED CT
- 721099001
- UMLS CUI
- C1849722
- Fully Specified Name
- Adult polyglucosan body disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.