Reading Time:
Pathology
An inherited progressive neurodegenerative disorder causing abnormal involuntary movements (chorea), psychotic symptoms, cognitive decline and dementia
Aetiology
Autosomal dominant trinucleotide repeat disorder due to mutation in Huntingtin gene on short arm of chromosome 4
Signs
Choreiform movements, dystonia and ballism
Symptoms
Early Symptoms: Personality changes, memory deficits, decreased executive skills
and slowing of saccadic eye movements.
Later Symptoms: Depression, anxiety, irritability, aggression, obsessive-
compulsive behavior, falls, speech and swallowing issues.
Investigations
Bloods: Genetic counseling for patient and family
Imaging: MRI brain may show atrophy of caudate lobe
Treatment
Chorea: Tetrabenazine.
Depression: Antipsychotics/SSRIs/benzodiazepines
Dysphagia: Modified diet, PEG feeding
MDT Approach: Physiotherapy, occupational therapy, SALT and family input
Prognosis
Average survival after onset of symptoms is around 20 years.
Pneumonia, cardiac disease and suicide
Key Facts
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.
Key Images
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.
Key References
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.