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Niemann Pick Disease Type C1 Adult Form C4017105

Published: July 22, 2026Updated: August 25, 2026

A rare genetic disorder causing cholesterol to accumulate in cells, leading to neurological and movement problems. Symptoms develop in adulthood and worsen gradually over time. Care focuses on symptom management and supportive therapies.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Dysphagia

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Vertical supranuclear gaze palsy

(neurological)

Ataxia

(neurological)

Hepatosplenomegaly

(gastrointestinal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Miglustat Therapy

Enzyme inhibition therapy that reduces cholesterol accumulation in cells by inhibiting glucosylceramide synthase, addressing the underlying metabolic defect.

medication
3

Neurological and Cognitive Tracking

Serial neurological examinations and cognitive assessments to monitor disease progression and treatment response in neurological manifestations.

monitoring

Additional treatment options

Movement Disorder Management

Targeted physical therapy interventions for ataxia, dystonia, and other movement abnormalities to maintain mobility and prevent contractures.

physical_therapy

Neuropsychiatric Support

Mental health support addressing cognitive impairment, psychiatric symptoms, and psychological adjustment to progressive neurological disease.

psychological

Multidisciplinary Supportive Care

Coordinated care from neurology, psychiatry, and rehabilitation services to address complex needs and optimize quality of life.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Niemann Pick Disease Type C1 Adult Form C4017105?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C1. Orphanet J Rare Dis. 2022.

guideline2022
2

Fecci PE, James LP, Berry KM, et al. Cyclodextrin therapy in NPC1: a phase I/II clinical trial. Lancet Neurol. 2021.

clinical_trial2021
3

Vanier MT, Gissen P, Bauer P, et al. Diagnostic and treatment practices in Niemann-Pick disease type C1. J Inherit Metab Dis. 2020.

review2020
4

Chen KH, Wu MS, Lin TH, et al. Efficacy of miglustat and other treatments for Niemann-Pick disease type C: systematic review and meta-analysis. Orphanet J Rare Dis. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Niemann Pick Disease Type C1 Adult Form C4017105. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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