Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Atrophy of the dentate nucleus
Very frequent (80-99%)HP:0007047
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Action tremor
Frequent (30-79%)HP:0002345
Appendicular ataxia
Frequent (30-79%)HP:0002070
Ataxia
Frequent (30-79%)HP:0001251
Choreiform movements
Frequent (30-79%)HP:0002072
Choreoathetosis
Frequent (30-79%)HP:0001266
Cognitive deficits
Frequent (30-79%)HP:0100543
Damaged optic nerve
Frequent (30-79%)HP:0001138
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysdiadochokinesis
Frequent (30-79%)HP:0002075
Dysmetria
Frequent (30-79%)HP:0001310
Dyssynergia
Frequent (30-79%)HP:0010867
Epilepsy
Frequent (30-79%)HP:0001250
Extraocular muscle palsy
Frequent (30-79%)HP:0000597
Hyperintensity of cerebral white matter on MRI
Frequent (30-79%)HP:0030890
Hyporeflexia
Frequent (30-79%)HP:0001265
Imbalance
Frequent (30-79%)HP:0002172
Impaired proprioception
Frequent (30-79%)HP:0010831
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Instability or lack of coordination of central trunk muscles
Frequent (30-79%)HP:0002078
Involuntary jerking movements
Frequent (30-79%)HP:0001336
Involuntary movements
Frequent (30-79%)HP:0004305
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Progressive dementia
Frequent (30-79%)HP:0000726
Saccadic slow pursuit
Frequent (30-79%)HP:0001152
Dystonic disease
Occasional (5-29%)HP:0001332
Involuntary closure of eyelid
Occasional (5-29%)HP:0000643
Memory impairment
Occasional (5-29%)HP:0002354
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Quick Facts
- SNOMED CT
- 68116008
- UMLS CUI
- C0751781
- Fully Specified Name
- Dentatorubropallidoluysian degeneration (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.