Adult Krabbe Disease C0268252
A rare genetic disorder that progressively damages the nervous system. It typically affects adults and causes muscle weakness, vision loss, and cognitive decline. There is no cure; treatment involves managing symptoms and supportive care.
Key facts at a glance
- ICD-10
- E75.23
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive muscle weakness
(neurologic)Spasticity
(neurologic)Peripheral neuropathy
(neurologic)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.
Rehabilitation Therapy
Comprehensive physical and occupational therapy focused on maintaining muscle strength, joint mobility, and functional independence as disease progresses.
Symptom Management
Pharmacological management of spasticity with muscle relaxants, neuropathic pain control, and treatment of associated symptoms such as insomnia and anxiety.
Additional treatment options
Occupational Therapy
Adaptive strategies and assistive devices to maintain activities of daily living, preserve upper limb function, and optimize quality of life.
complementaryPsychological Support
Individual and family counseling to address depression, anxiety, grief, and coping challenges associated with progressive neurodegenerative disease.
psychologicalNutritional Support
Dietetic assessment ensuring adequate caloric intake, hydration, and fiber to manage constipation; supplementation if needed to prevent malnutrition.
dietaryWhen 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 Adult Krabbe Disease C0268252?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Patel R, Shukla A, Kumar S. Adult-onset Krabbe disease: Clinical manifestations and diagnostic approaches. Orphanet J Rare Dis. 2019.
Miller AF, Thompson CH, Anderson JM. Guidelines for the management of inherited leukodystrophies including adult Krabbe disease. Neurology. 2021.
Chen X, Rodriguez R, Lee K. Hematopoietic stem cell transplantation for adult Krabbe disease: A prospective cohort study. Blood Adv. 2020.
Davis LE, White KR, Garcia MN. Neurodegeneration in lysosomal storage disorders: Focus on adult Krabbe disease. J Inherit Metab Dis. 2018.
Medication Comparisons
Compare medications used to treat Adult Krabbe Disease C0268252. 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 27, 2026. · Read our editorial policy