Neuro

Huntinton's Disease

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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

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Key Images

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Key References

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