Huntington's chorea Flashcards
What is the pattern of inheritance?
Autosomal dominant
What is the genetic mutation?
Trinucleotide repeat disorder with mutation in the HTT gene on chromosome 4
Codes for Huntingtin protein
When do symptoms usually begin?
Aged 30-50
Explain anticipation
Feature of trinucleotide repeat disorders where successive generations have more repeats in the gene
Results in earlier age of onset and increased severity of disease
How does it present? What problems typically appear first?
Insidious progressive worsening of sx
Typically begins with cognitive, psychiatric or mood problems
Then movement disordersW
What movement disorders can occur?
Chorea - random irregular involuntary and abnormal body movements
Dystonia - abnormal muscle tone
Rigidity
Eye movement disorders
Dysarthria
Dysphagia
How is diagnosis made?
Genetic testing
What does management involve? Is there treatment for stopping progression
Genetic counselling
MDT
Physio
SALT
Antidepressants
Advanced directives
What medication can be given for chorea symptoms?
Tetrabenazine
What is the prognosis?
Life expectance - 10-20 years after onset of symptoms
What is the usual cause of death?
Aspiration pneumonia
Suicide
How old must someone be before they can be tested for the condition?
18 years
