DISEASE SCANNER
Global Incurable Diseases Tracker
Alexander Disease
A rare, usually fatal neurological disorder causing destruction of white matter in the brain. Characterized by abnormal protein (GFAP) deposits called Rosenthal fibers. Most common form is infantile, but juvenile and adult forms exist. Affects approximately 1 in 2.7 million people. No cure available.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1MRI of brain (characteristic pattern)
- 2GFAP genetic testing
- 3Brain biopsy (rarely needed now)
- 4Clinical evaluation
- 5Neuroimaging
- 6Genetic counseling
Prognosis
Poor. Infantile form fatal within 10 years usually. Juvenile form variable. Adult form slower progression but progressive. No cure available. Life expectancy reduced in all forms. Quality of life significantly affected. Death usually from respiratory or feeding complications.
Prevention
- Genetic counseling
- Prenatal testing available
- Preimplantation genetic diagnosis
- Carrier screening
- Family planning support
Research Status
No cure. Supportive care only. Treatment of seizures. Gastrostomy for feeding. Physical therapy. Antisense therapy research ongoing. Gene therapy being investigated. Bone marrow transplant not effective. Palliative care important. Multidisciplinary support essential.
Affected Countries
Sources
- https://www.mayoclinic.org/diseases-conditions/alexander-disease
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.