Niemann Pick Disease Type C Adult Neurologic Onset C5680869
A rare inherited condition where cholesterol accumulates in cells, damaging the nervous system. Symptoms emerge in adulthood and worsen over time. Management focuses on supportive care and symptom relief.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vertical supranuclear gaze palsy
(neurological)Ataxia
(neurological)Dystonia
(neurological)Psychosis
(psychiatric)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
Disease-Modifying Therapy
Pharmacological treatment aimed at slowing disease progression and managing neurological symptoms. Treatment response varies among individuals and should be monitored regularly.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Symptomatic Neurological Management
Targeted medication for specific neurological symptoms such as movement disorders, seizures, or psychiatric manifestations. Treatment selection based on predominant symptoms.
Additional treatment options
Psychological Support and Counseling
Mental health support addressing the emotional impact of a progressive neurological condition. Includes counseling for patient and family members dealing with diagnosis and disease progression.
psychologicalRehabilitation and Motor Function Support
Physical therapy focusing on maintaining mobility, balance, and functional independence. Regular exercise programs tailored to individual capabilities and disease stage.
physical_therapyMultidisciplinary Neurological Monitoring
Regular comprehensive assessments including neurological examination, cognitive testing, and imaging studies to track disease progression and treatment response.
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 Adult Neurologic Onset C5680869?
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 Adult Neurologic Onset C5680869. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy