Niemann Pick Disease Type C1 C3179455
The most common form of Niemann-Pick type C, caused by NPC1 gene mutations. Cholesterol buildup damages the nervous system over time. Treatment focuses on symptom management.
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.
Warning signs - seek immediate care
Seizures
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)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Miglustat therapy
The primary disease-specific treatment for NPC1, working to reduce cellular cholesterol accumulation through enzyme inhibition. Early treatment correlates with better long-term outcomes.
Fall prevention and safety adaptations
Environmental modifications and safety equipment (helmets, adaptive devices) to reduce injury risk from progressive ataxia, dystonia, and sudden falls characteristic of NPC1.
Additional treatment options
Dystonia and spasticity management
Pharmacological management of movement disorders including dystonia, spasticity, and tremor using muscle relaxants, baclofen, or botulinum toxin injections as appropriate.
medicationNeuroprotective supplement support
Adjunctive use of antioxidants and neuroprotective compounds (such as curcumin, vitamin E) that may provide complementary cellular protection, though evidence is primarily preclinical.
complementaryHearing assessment and intervention
Regular audiological evaluations and appropriate interventions (hearing aids, cochlear implants if indicated) for hearing loss, which commonly develops in NPC1 and impacts quality of life.
procedureWhen 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 C3179455?
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 C1 C3179455. 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