DISEASE SCANNER
Global Incurable Diseases Tracker
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Genetic Disorder
Huntington Disease
HIGH SEVERITY
Autosomal dominant neurodegenerative disorder. CAG repeat expansion in HTT gene. Choreiform movements, cognitive decline, psychiatric symptoms. Inevitably fatal.
Global Affected
300.0K
Countries
15
Symptoms
Chorea
Cognitive decline
Depression
Psychosis
Weight loss
Swallowing difficulties
Treatment Options
Tetrabenazine
Antipsychotics
Antidepressants
Supportive care
Risk Factors
1HTT gene expansion
2Autosomal dominant inheritance
3Family history
Diagnostic Methods
- 1Genetic testing
- 2Clinical criteria
- 3Neuroimaging
Prognosis
Inevitably fatal. Median survival 15-20 years from onset. No cure.
Prevention
- Genetic counseling
- Predictive testing
- Preimplantation genetic diagnosis
Research Status
Tetrabenazine for chorea. Antisense oligonucleotides in trials. No disease-modifying therapy yet.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1305
- 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.