Overview
Infantile onset spinocerebellar ataxia is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Areflexia
Always present (100%)HP:0001284
Athetoid movements
Always present (100%)HP:0002305
Encephalopathy
Always present (100%)HP:0001298
Involuntary movements
Always present (100%)HP:0004305
Kojevnikov's epilepsia
Always present (100%)HP:0012847
Loss of ambulation
Always present (100%)HP:0002505
Loss of large myelinated fibres
Always present (100%)HP:0003387
Muscular hypotonia
Always present (100%)HP:0001252
Prolonged seizure
Always present (100%)HP:0002133
Sensory axonal neuropathy
Always present (100%)HP:0003390
Vomiting
Always present (100%)HP:0002013
Abnormality of movement
Very frequent (80-99%)HP:0100022
Abnormality of the autonomic nervous system
Very frequent (80-99%)HP:0002270
Ataxia
Very frequent (80-99%)HP:0001251
Diminished deep tendon reflexes
Very frequent (80-99%)HP:0001315
Eye muscle paralysis
Very frequent (80-99%)HP:0000602
Hypoacusis
Very frequent (80-99%)HP:0000365
Optic atrophy
Very frequent (80-99%)HP:0000648
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Cerebellar cortex degeneration
Frequent (30-79%)HP:0008278
Deglutition disorder
Frequent (30-79%)HP:0002015
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Elevated serum aspartate aminotransferase
Frequent (30-79%)HP:0031956
Extensor plantar responses
Frequent (30-79%)HP:0003487
Fiber type grouping
Frequent (30-79%)HP:0033685
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Poor eye contact
Frequent (30-79%)HP:0000817
Atrophic cerebellum
HP:0001272
Brainstem atrophy
HP:0007366
Cerebral cortex atrophy
HP:0002120
Quick Facts
- SNOMED CT
- 724227000
- UMLS CUI
- C1849096
- Fully Specified Name
- Infantile onset spinocerebellar ataxia (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.