A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movem...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for benign paroxysmal tonic upgaze of childhood with ataxia is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity of cases makes comprehensive clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is needed to fully understand the condition.
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Currently, there is one active clinical trial related to benign paroxysmal tonic upgaze of childhood with ataxia. You can find more information about this trial by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=benign%20paroxysmal%20tonic%20upgaze%20of%20childhood%20with%20ataxia. This trial may provide insights into potential treatment options and further understanding of the condition.
Actionable guidance for navigating care for benign paroxysmal tonic upgaze of childhood with ataxia
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for benign paroxysmal tonic upgaze of childhood with ataxia is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity of cases makes comprehensive clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is needed to fully understand the condition.
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Currently, there is one active clinical trial related to benign paroxysmal tonic upgaze of childhood with ataxia. You can find more information about this trial by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=benign%20paroxysmal%20tonic%20upgaze%20of%20childhood%20with%20ataxia. This trial may provide insights into potential treatment options and further understanding of the condition.
Actionable guidance for navigating care for benign paroxysmal tonic upgaze of childhood with ataxia
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for benign paroxysmal tonic upgaze of childhood with ataxia is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity of cases makes comprehensive clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is needed to fully understand the condition.
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Currently, there is one active clinical trial related to benign paroxysmal tonic upgaze of childhood with ataxia. You can find more information about this trial by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=benign%20paroxysmal%20tonic%20upgaze%20of%20childhood%20with%20ataxia. This trial may provide insights into potential treatment options and further understanding of the condition.
Actionable guidance for navigating care for benign paroxysmal tonic upgaze of childhood with ataxia
To navigate your care effectively, seek a neurologist with expertise in movement disorders, particularly those familiar with childhood ataxias. You may also benefit from genetic counseling to discuss the implications of the DAGLA gene variant. While no patient organizations are currently identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider participating in clinical trials to contribute to research and gain access to potential new therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.