Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Incoordination
Very frequent (80-99%)HP:0002311
Myokymia
Very frequent (80-99%)HP:0002411
Postural instability
Very frequent (80-99%)HP:0002172
Clumsiness
Frequent (30-79%)HP:0002312
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Double vision
Frequent (30-79%)HP:0000651
Headache
Frequent (30-79%)HP:0002315
Hyperhidrosis
Frequent (30-79%)HP:0000975
Muscle spasm
Frequent (30-79%)HP:0003394
Muscle stiffness
Frequent (30-79%)HP:0003552
Nausea
Frequent (30-79%)HP:0002018
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Choreoathetoid movements
Occasional (5-29%)HP:0001266
Craniofacial disproportion
Occasional (5-29%)HP:0005461
Delayed language development
Occasional (5-29%)HP:0000750
Delayed motor milestones
Occasional (5-29%)HP:0001270
Delayed relaxation of muscle fibres after contraction
Occasional (5-29%)HP:0002486
Increased size of calf muscles
Occasional (5-29%)HP:0008981
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Laboured breathing
Occasional (5-29%)HP:0002098
Scoliosis
Occasional (5-29%)HP:0002650
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Specific learning disability
Occasional (5-29%)HP:0001328
Thumb clasp
Occasional (5-29%)HP:0001188
Walking on tiptoes
Occasional (5-29%)HP:0030051
Abnormal hands
HP:0001155
Blurred vision
HP:0000622
Elevated circulating creatine phosphokinase
HP:0003236
Extensor plantar responses
HP:0003487
Increased reflexes
HP:0001347
Related Conditions
Quick Facts
- SNOMED CT
- 421182009
- UMLS CUI
- C1719788
- Fully Specified Name
- Episodic 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.