Huntington’s disease
diagnostic aspects and ethical implications
Keywords:
Huntington, Disease, Diagnosis, Ethics, Neuropsychiatry, Genetic testingAbstract
Huntington’s disease is a neurodegenerative disorder with autosomal dominant
inheritance, characterized by neurological manifestations and neuropsychiatric
and autonomic dysfunction. There is no treatment for Huntington’s disease, which
raises important ethical issues upon the impact of diagnostic confirmation and
the possibility of family planning. A 68-year-old female patient presented with
choreiform movements of lips, tongue, hands and left foot, dysphagia, depression
and impairment of cognitive functions of medium severity that had been going
on for three years. Magnetic resonance imaging of the brain showed changes
consistent with Huntington’s disease. After advising the patient and her caregiver,
genetic testing was performed and confirmed the suggested hypothesis. The
diagnosis should be done as soon as possible, in order to reduce the impact on
the patient’s life and his or her family and to allow family planning. This diagnosis
brings about difficult issues to deal with, especially when the patient’s autonomy
is affected. Therefore, counseling before and after the test is essential.
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