Neuro: Huntingtons Chorea Flashcards
What is Huntingtons Chorea?
An autosomal dominant genertic condition that causes a progressive deterioration in the nervous system.
Patients are usually asymptomatic until symptoms beging around 30-50 years
What gene is involved in the inheritance of Huntrington’s Chorea?
Trinucleotide repeat disorder that involves a genetic mutation in the HTT gene on chromosome 4
What is Anticipation?
Feature of trinucleotide repeat disorders (such as Huntington’s) where successive generations have more repeats in the gene, resulting in earlier age of onset and increased severity of disease
How might Huntington’s present?
Insidious, progressive worsening of symptoms.
Typically begins with cognitive, psychiatric or mood problems, followed by the developement of movement disorders
How might movement be disordered in Huntington’s?
Chorea (involuntary, abnormal movements)
Eye movement disorders
Speech difficulties (dysarthria)
Swallowing difficulties (dysphagia)
How is Huntington’s diagnosed?
Diagnosis is made in a specialist genetic centre using a genetic test for the faulty gene. It involves pre-test and post-test counselling regarding the implications of the results.
How is Huntington’s Chorea managed?
MDT involvement to maintain QOL
SALT where there are speech and swallowing difficulties
Genetic counselling regarding relatives, pregnancy and children
Advanced directives
End of life care planning
Medication for symptomatic relief
What medications may be used to relieve symptoms of Huntington’s?
Antipsychotics (e.g. olanzapine)
Benzodiazepines (e.g. diazepam)
Dopamine-depleting agents (e.g. tetrabenazine)
Prognosis of Huntington’s?
Life expectance after onset of symptoms: 15-20 years
As the disease progresses patients become more susceptible and less able to fight off illness, death often being due to respiratory disease (e.g. pneumonia)
At what age to Huntington’s symptoms usually appear?
30 to 50 years
