Niemann Pick Disease Type C C0220756
A group of rare genetic disorders where fats accumulate in cells, harming the brain and organs. Severity varies by type. Management includes supportive care and emerging therapies.
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
Hepatosplenomegaly
(hepatobiliary)Ataxia
(neurological)Vertical supranuclear gaze palsy
(neurological)Dystonia
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Miglustat treatment
Standard disease-modifying therapy for NPC using miglustat to inhibit glucosylceramide synthase, reducing harmful substrate accumulation in affected cells and potentially slowing disease progression.
Comprehensive NPC severity scoring
Regular systematic assessment using validated scoring systems (NPC Severity Scale) to track disease progression, guide treatment decisions, and evaluate response to interventions.
Additional treatment options
Drainage procedures for organomegaly
Surgical or interventional procedures to address severe liver and spleen enlargement causing discomfort, respiratory compromise, or hematologic complications.
surgicalPsychosocial support and family counseling
Mental health support for patients and families facing progressive neurodegenerative disease, including coping strategies, grief support, and assistance navigating care systems.
psychologicalSymptom-targeted pharmacotherapy
Management of specific NPC symptoms including cataplexy, dystonia, and behavioral disturbances using targeted medications as symptoms emerge throughout disease course.
medicationWhen 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 C0220756?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Niemann Pick Disease Type C C0220756. 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 25, 2026. · Read our editorial policy