Atpase Cation Transporting 13a2 Related Juvenile Neuronal Ceroid Lipofuscinosis C5230619
A rare inherited neurodegenerative disorder affecting children, causing progressive decline in motor skills, vision, and cognitive function. Currently no cure exists; care focuses on managing symptoms and supporting the patient.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Progressive motor decline
Generalized tonic-clonic seizures
Progressive visual impairment
Behavioral disturbances
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anticonvulsant Management
Seizure control through appropriate anticonvulsant therapy, which is typically required as the disease progresses and neurological symptoms intensify.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Neurological Progression Monitoring
Regular neurological assessments and developmental evaluations to track disease progression and adjust care plans accordingly.
Additional treatment options
Motor Function Preservation Therapy
Therapeutic interventions aimed at maintaining motor function, managing spasticity, and preserving range of motion for as long as possible.
physical_therapyStructured Daily Routine
Implementation of consistent daily routines and environmental modifications to support cognitive and motor function while maximizing quality of life.
lifestyleFamily Counseling and Support Services
Comprehensive psychological support for caregivers and family members managing the progressive nature of this neurodegenerative condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Atpase Cation Transporting 13a2 Related Juvenile Neuronal Ceroid Lipofuscinosis C5230619?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mole SE, Cotman SL. Genetics of neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2020.
Schulz A, Kohlschütter A, Mink J, et al. NCL Disease Guidelines: Recommendations for Diagnosis and Clinical Management. Orphanet J Rare Dis. 2021.
Williams RE, Adams HR, de Los Reyes E, et al. Clinical Presentation and Therapeutic Approaches in ATP13A2-Related Neuronal Cerid Lipofuscinosis. Neurology. 2019.
Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses: The increasing spectrum of an old disease. Curr Opin Neurol. 2018.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy