Huntington's chorea Flashcards
Huntington’s is an auto dominant condition with full p____, causing progressive neurological dysfunction
penetrance
All genotypes will express phenotype
In Huntington’s there is a lack of ____ and excessive n________ pathway
GABA
nigrostriatal
Which gene is affected in Huntington’s?
Trinucleotide repeat disorder
“CAG” repeats on chromosome 4, affecting the HTT gene which codes for the huntingtin protein.
At what age do Huntington’s symptoms start to begin typically?
30-50 y/o
What is anticipation in Huntington’s?
Feature of trinucleotide repeat disorders where successive generations have more repeats in the gene resulting in earlier age of onset and increased severity of disease.
Huntington’s typically begins with c____, p_____ and mood problems followed by movement disorders.
cognitive, pyschiatric
What are some of the movement disorders with Huntington’s?
Chorea = involuntary, random, irregular, abnormal body movements
Dystonia = abnormal muscle tone, abnormal posture
Rigidity = increased resistance to passive movement of joint
Eye movement disorders
Dysarthria (speech difficulty)
Dysphagia (swallowing difficulty)
How is Huntington’s diagnosed?
Genetic testing with pre and post-test counselling
What therapies may help with mobility and speech/swallowing difficulties?
Physiotherapy and speech and language therapy
What medications may be given for Huntington’s?
Tetrabenazine for chorea symptoms
Antidepressants
What is the life expectancy after the onset of symptoms of Huntington’s?
10-20 years
Death is often due to aspiration pneumonia. Suicide is not uncommon.
What is given alongside medication for Huntington’s?
Extensive counselling
True or false: tetrabenazine is a dopamine antagonist
True
