Neurology - Huntington's Chorea Flashcards
What is Huntington’s disease also known as?
Huntington’s chorea
What type of genetic condition is Huntington’s disease?
Autosomal dominant genetic condition
What gene is mutated in Huntington’s disease?
HTT gene
On which chromosome is the HTT gene located?
Chromosome 4
What protein does the HTT gene code for?
Huntingtin (HTT) protein
At what age do symptoms of Huntington’s disease typically begin?
30-50 years
What are trinucleotide repeat disorders?
Disorders involving repetitions of a sequence of three nucleotides
Name two other examples of trinucleotide repeat disorders.
- Fragile X syndrome
- Spinocerebellar ataxia
What is genetic anticipation?
A feature where successive generations have more repeats in the gene
What are the effects of genetic anticipation in Huntington’s disease?
- Earlier age of onset
- Increased severity of disease
What is the typical presentation of Huntington’s chorea?
Progressive worsening of symptoms starting with cognitive, psychiatric, or mood problems
List three types of movement disorders associated with Huntington’s chorea.
- Chorea
- Dystonia
- Rigidity
What is dysarthria?
Speech difficulties
What is dysphagia?
Swallowing difficulties
How is Huntington’s disease diagnosed?
Genetic testing via a specialist genetic centre
What is currently available for the treatment of Huntington’s disease?
No treatment options to slow or stop progression
What is a key aspect of management for Huntington’s disease?
Supporting the person and their family
What role does physiotherapy play in managing Huntington’s disease?
Improves mobility, maintains joint function, and prevents contractures
What medication may be used for chorea symptoms?
Tetrabenazine
What type of medication is used for depression in Huntington’s disease?
Antidepressants (e.g., SSRIs)
What is the life expectancy after the onset of symptoms in Huntington’s disease?
10-20 years
What is a common cause of death in patients with Huntington’s disease?
Aspiration pneumonia
True or False: The child of someone with Huntington’s disease has a 50% chance of inheriting the faulty gene.
True
Fill in the blank: Huntington’s disease is a _______ genetic condition.
autosomal dominant
