Niemann Pick Disease Type C1 Juvenile Form C4017106
A juvenile-onset form of NPC1-related cholesterol storage disorder. Causes progressive movement problems, cognitive decline, and organ involvement. Care is primarily supportive.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Psychomotor regression
(neurological)Dysarthria
(neurological)Dystonia
(neurological)Hearing loss
(ENT)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
Enzyme inhibitor therapy that reduces accumulation of glycolipids in cells by inhibiting glucosylceramide synthase. This is the primary disease-modifying treatment for Niemann-Pick type C1.
Comprehensive neurological monitoring
Regular assessment of neurological function including cognitive testing, motor evaluation, and neuroimaging to track disease progression and treatment response.
Additional treatment options
Adaptive physical therapy
Individualized exercise program focusing on maintaining joint mobility, balance training, and functional movement to preserve motor abilities as disease progresses.
physical_therapyLow-fat nutritional support
Dietary modification to reduce fat absorption burden and manage hepatosplenomegaly symptoms, often including medium-chain triglyceride supplementation.
dietaryNeuropsychological support services
Cognitive rehabilitation and psychological support addressing memory difficulties, behavioral changes, and emotional adjustment for both patient and family members.
psychologicalWhen 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 C1 Juvenile Form C4017106?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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 25, 2026. · Read our editorial policy