Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased amplitude of sensory action potentials
Always present (100%)HP:0007078
Impaired vibratory sensation
Always present (100%)HP:0002495
Neuropathy
Very frequent (80-99%)HP:0009830
Progressive cerebellar ataxia
Very frequent (80-99%)HP:0002073
Abnormal flash visual evoked potentials
Frequent (30-79%)HP:0007928
Abnormality of somatosensory evoked potentials
Frequent (30-79%)HP:0007377
Brainstem atrophy
Frequent (30-79%)HP:0007366
Bulbar signs
Frequent (30-79%)HP:0002483
Choreiform movements
Frequent (30-79%)HP:0002072
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Dystonic movements
Frequent (30-79%)HP:0001332
Eye movement issue
Frequent (30-79%)HP:0000496
Gait disturbance
Frequent (30-79%)HP:0001288
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Impaired pain sensation
Frequent (30-79%)HP:0007328
Inertia
Frequent (30-79%)HP:0030216
Infratentorial atrophy
Frequent (30-79%)HP:0001272
Intellectual impairment
Frequent (30-79%)HP:0100543
Loss of Purkinje cells in the cerebellar vermis
Frequent (30-79%)HP:0007001
Memory impairment
Frequent (30-79%)HP:0002354
Muscle spasm
Frequent (30-79%)HP:0003394
Nerve conduction abnormalities
Frequent (30-79%)HP:0040129
Slow visual tracking
Frequent (30-79%)HP:0000514
Slowness of movements
Frequent (30-79%)HP:0002067
Slurred speech
Frequent (30-79%)HP:0001350
Staring gaze
Frequent (30-79%)HP:0025401
Upgaze palsy
Frequent (30-79%)HP:0025331
Abnormal finger-nose-finger test
Occasional (5-29%)HP:0001310
Quick Facts
- SNOMED CT
- 715748006
- UMLS CUI
- C0752120
- Fully Specified Name
- Spinocerebellar ataxia type 1 (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.