Huntington's disease: genetic and progressive
A rare hereditary neurodegenerative disease
Dr. Antoine Mercier
Neurologist
An autosomal dominant disease
Huntington's is due to abnormal CAG repeat expansion in the HTT gene. Onset typically 30-50 years. Each child of an affected person has a 50% risk.
Symptoms
Motor (chorea: involuntary jerky movements), cognitive (executive functions, memory), psychiatric (depression, irritability, apathy). Progression over 15-20 years.
Diagnosis
Genetic test (CAG repeat count). Predictive testing with mandatory genetic counseling and psychological follow-up.
Treatments
- Tetrabenazine, deutetrabenazine: chorea
- Antidepressants, antipsychotics for psychiatric symptoms
- Speech and physical therapy
- Antisense oligonucleotides under research (tominersen)
Care
Multidisciplinary specialized centers, patient associations, advance care planning.
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