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Huntington's Disease (Clinical Presentation (Chorea develops (Can'…
Huntington's Disease
Key Facts
Huntington's is a cause of chorea and is a neurodegenerative disorder characterised by the LACK of the inhibitory neurotransmitter GABA
Chorea
A continuous flow of jerky, semi-purposeful movements, flitting from one part of the body to another
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Epidemiology
Incurable, progressive neurodegenerative disorder
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Vary rare, prevalence worldwide is 5 per 100000
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Pathophysiology
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The more repeats there are, the earlier symptom onset
GABA is the main inhibitory neurotransmitter, there is decreased inhibition of dopamine release, so excessive thalamic stimulation and excessive movements
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Clinical Presentation
Psychiatric problems
Behavioural change - aggression, addictive behaviour, apathy & self-neglect
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Dysarthria (unclear speech), dysphagia and abnormal eye movements
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Chorea develops
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May begin as general restlessness, unintentionally initiated movements and lack of coordination
Relentlessly progressive, jerky, explosive, rigidity INVOLUNTARY movements - CEASES when sleeping
Eventually to death - usually occurs within 15 years of diagnosis, usually from an intercurrent illness
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Diagnosis
Genetic testing - shows many CAG repeats (over 35) - extensive genetic counselling is required due to the impact a positive diagnosis will have
CT/MRI
- Shows caudate nucleus atrophy and increased size of the frontal horns of the LATERAL VENTRICLES (signs of brain matter destruction)
- Imaging is not useful early on in disease process
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Treatment
Symptomatic management of chorea - benzodiazepines, sulpiride (neuroleptic - depresses nerve function), tetrabenazine (dopamine depleting agent)
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Counselling to patient and family, genetic counselling to any children of patients
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