Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Abnormality of the substantia nigra
Very frequent (80-99%)HP:0045007
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Abnormal cell morphology
Frequent (30-79%)HP:0025461
Abnormality of the spinocerebellar tracts
Frequent (30-79%)HP:0003133
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Cerebellar Purkinje layer atrophy
Frequent (30-79%)HP:0012082
Choreiform movements
Frequent (30-79%)HP:0002072
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic disease
Frequent (30-79%)HP:0001332
Essential tremor
Frequent (30-79%)HP:0030186
Extensor plantar responses
Frequent (30-79%)HP:0003487
Hyporeflexia
Frequent (30-79%)HP:0001265
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Muscle fasciculation
Frequent (30-79%)HP:0002380
Muscle spasm
Frequent (30-79%)HP:0003394
Olivopontocerebellar hypoplasia
Frequent (30-79%)HP:0006955
Progressive dementia
Frequent (30-79%)HP:0000726
Slow visual tracking
Frequent (30-79%)HP:0000514
Spinal cord posterior columns myelin loss
Frequent (30-79%)HP:0008311
Supranuclear ophthalmoplegia
Frequent (30-79%)HP:0000623
Unsteady walk
Frequent (30-79%)HP:0002317
Urinary incontinence
Frequent (30-79%)HP:0000020
Abnormal cortical gyration
Occasional (5-29%)HP:0002536
Cerebral cortex atrophy
Occasional (5-29%)HP:0002120
Cerebral white matter atrophy
Occasional (5-29%)HP:0012762
Extraocular muscle palsy
Occasional (5-29%)HP:0000597
Hyperactive deep tendon reflexes
Occasional (5-29%)HP:0006801
Quick Facts
- SNOMED CT
- 715751004
- UMLS CUI
- C0752121
- Fully Specified Name
- Spinocerebellar ataxia type 2 (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.