Niemann Pick Disease Type C Juvenile Neurologic Onset C5679813
A genetic disorder causing cholesterol buildup in cells, leading to progressive neurological decline in childhood. Affects motor function, cognition, and organ health. Care is supportive.
Key facts at a glance
- ICD-10
- E75.242
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Ataxia
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatosplenomegaly
(hepatobiliary)Vertical supranuclear gaze palsy
(neurological)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Miglustat therapy
Miglustat is an enzyme inhibitor that helps reduce glucosylceramide accumulation in cells. It is the only disease-modifying treatment approved for NPC and may help slow neurologic progression when initiated early.
Multidisciplinary neurodevelopmental support
Comprehensive physical, occupational, and speech therapy program designed to maintain motor function, address swallowing difficulties, and support developmental needs. Therapy is tailored to the juvenile neurologic presentation.
Additional treatment options
Anticonvulsant management
Seizure control using appropriate antiepileptic medications based on seizure type. Regular neurological monitoring is essential as seizure patterns may change with disease progression.
medicationNutritional support and feeding assistance
Assessment and management of nutritional status including modified food textures, feeding schedules, and caloric supplementation as needed to prevent malnutrition and weight loss common in NPC.
dietaryRegular disease progression monitoring
Systematic evaluation of neurological function, liver/spleen involvement, hearing, and cognitive status using standardized NPC-specific assessment tools to guide treatment adjustments.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Niemann Pick Disease Type C Juvenile Neurologic Onset C5679813?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy