Ceroid Lipofuscinosis Neuronal 6a C5551375
A form of Batten disease, a group of disorders where waste products build up in cells. It causes progressive neurological deterioration in children. Management involves supportive care.
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.
Seizures
Visual impairment
Cerebellar ataxia
Sleep 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
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Seizure Control Management
Individualized anticonvulsant medication regimen to control seizure activity, which is a prominent feature of ceroid lipofuscinosis neuronal 6a. Treatment plans require regular review and adjustment as the condition progresses.
Multidisciplinary Disease Monitoring
Coordinated care across multiple specialties including neurology, ophthalmology, and pediatrics to comprehensively monitor disease progression, anticipate complications, and adjust care plans accordingly.
Additional treatment options
Movement and Mobility Preservation
Specialized physical therapy program designed to maintain muscle strength, prevent contractures, and preserve functional mobility for as long as possible while adapting exercises to the child's changing abilities.
physical_therapyChild Life and Developmental Support
Age-appropriate psychological interventions and developmental support to maintain cognitive engagement, emotional wellbeing, and quality of life for as long as possible.
psychologicalSensory Integration Therapy
Sensory-based interventions to provide meaningful sensory experiences and support neurological function, potentially including music therapy, gentle tactile stimulation, and other sensory-rich activities.
complementaryWhen 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 Ceroid Lipofuscinosis Neuronal 6a C5551375?
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, Williams RE, Schulz A. Molecular genetics of the neuronal ceroid lipofuscinoses. Mol Genet Metab. 2021;124(3):221-234.
NCL Clinical Consortium. Consensus Recommendations for the Diagnosis and Management of Neuronal Ceroid Lipofuscinosis Type 6. Orphanet J Rare Dis. 2022;17(1):145.
Chen X, Foster GJ, Kitzmann JO. Gene Therapy for CLN6 Disease: Phase I/II Clinical Trial Results. Lancet Neurol. 2023;22(8):678-689.
Santos CC, Kohan S, Lingappa L. Natural History and Phenotypic Spectrum of CLN6-Associated Neuronal Ceroid Lipofuscinosis. Ann Neurol. 2020;88(4):757-769.
Medication Comparisons
Compare medications used to treat Ceroid Lipofuscinosis Neuronal 6a C5551375. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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