Pathology: An inherited progressiveneurodegenerative disorder causing abnormal involuntary movements (chorea),psychotic symptoms, cognitive decline and dementia
Aetiology: Autosomal dominanttrinucleotide repeat disorder due to mutation in Huntingtin gene on short armof chromosome 4
Symptoms: Early Symptoms: Personalitychanges, memory deficits, decreased executive skills
and slowing of saccadic eye movements.
Later Symptoms: Depression,anxiety, irritability, aggression, obsessive-
compulsive behavior, falls, speech andswallowing issues.
Signs: Choreiformmovements, dystonia and ballism
Investigations: Bloods: Genetic counseling forpatient and family
Imaging: MRI brain may showatrophy of caudate lobe
Treatment: Chorea: Tetrabenazine.
Depression: Antipsychotics/SSRIs/benzodiazepines
Dysphagia: Modified diet, PEGfeeding
MDT Approach: Physiotherapy, occupationaltherapy, SALT and family input
Complications: Pneumonia,cardiac disease and suicide
Prognosis: Average survival after onsetof symptoms is around 20 years.
