Living with Benign paroxysmal tonic upgaze of childhood with ataxia
A rare childhood movement condition with episodes of upward eye gaze and unsteadiness.
Understanding Benign paroxysmal tonic upgaze of childhood with ataxia
Episodes involve a sustained upward turn of both eyes, with side-to-side eye movements preserved. Children also have ataxia (unsteady walking and poor balance and coordination) but are otherwise healthy. Eye flickering (nystagmus) is also seen. Symptoms start in newborns and infants, and generally go away on their own within 1 to 2 years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eyes turning upward in episodes
- Abnormal eye movements
- Rapid, rhythmic eye movements (nystagmus)
- Unsteadiness during episodes (episodic ataxia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DAGLA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DAGLA gene cause this condition.
Also known as: neuroocular syndrome 2, paroxysmal type; noc2; ouvrier billson syndrome; ouvrier-billson syndrome; paroxysmal tonic upgaze, benign childhood, with ataxia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Benign paroxysmal tonic upgaze of childhood with ataxia.
Explore research for Benign paroxysmal tonic upgaze of childhood with ataxia
Explore actively recruiting Benign paroxysmal tonic upgaze of childhood with ataxia studies with HealthSpark.
Find actively recruiting studies for Benign paroxysmal tonic upgaze of childhood with ataxia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Benign paroxysmal tonic upgaze of childhood with ataxia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Benign paroxysmal tonic upgaze of childhood with ataxia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Benign paroxysmal tonic upgaze of childhood with ataxia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.