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Huntington's disease

Definition
HD is an adult-onset, autosomal dominant inherited neurodegenerative disorder characterized by the progressive development of chorea, psychiatric symptoms, and cognitive impairment.
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Pathophysiology
Primary neuropathophysiology occurs in the neostriatum with atrophy, neuronal loss and gliosis in the caudate nucleus, thalamus, and, ultimately, the cortex. HD is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion at the 5' end of the huntingtin gene.
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Epidemiology
The cumulative incidence rate of HD in the US is estimated at 1.22 per 100,000 persons (95% CI 1.53-1.65). Mean age at onset ranges from 35-44 years.
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Disease course
Initial clinical manifestations include motor dysfunction (chorea, athetosis, oculomotor disorders), hyperreflexia and hyperhidrosis. Advanced stages progress to movement dysfunction (dystonia, rigidity, bradykinesia, dysarthria, gait disturbance, facial grimacing), cognitive decline (dementia), and psychiatric disturbances (major depressive disorder, psychosis, obsessive-compulsive symptoms, suicidal ideation). Additionally, ataxic gait and seizure may occur.
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Prognosis and risk of recurrence
Huntington disease progresses to disability, and eventually death approximately 15-20 years after onset. Intercurrent illnesses such as aspiration pneumonia are the most common cause of death.
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Key sources
The following summarized guidelines for the evaluation and management of Huntington's disease are prepared by our editorial team based on guidelines from the American Academy of Neurology (AAN 2020; 2012), the European Huntington's Disease Network (EHDN 2019), and the Huntington's Disease Expert Group (HD-EG 2018).
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Guidelines

1.Diagnostic investigations

Clinical assessment
Elicit symptoms from patients with HD when possible, and collateral information from carers.
E
Assess for comorbid medical conditions, medications, environmental factors, and coexisting psychiatric symptoms of HD contributing to the presenting symptoms.
E
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2.Medical management

General principles: decide on drug choice in HD depending on coexisting symptoms and the stage of the disease.
E
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More topics in this section

  • Management of chorea

  • Management of dystonia and rigidity

  • Management of motor deterioration

  • Management of gait disturbance

  • Management of dysphagia

  • Management of respiratory muscle weakness

  • Management of respiratory decline

  • Management of bruxism

  • Management of dental pain

  • Management of urinary incontinence

  • Management of sexual disorders

  • Management of cognitive impairment

  • Management of akathisia and irritability

  • Management of communication difficulties

  • Management of depression and anxiety

  • Management of apathy

  • Management of sleep disorders

  • Management of perseveration

  • Management of hallucinations

  • Management of agitation

  • Management of psychosis

3.Nonpharmacologic interventions

Nutritional support: ensure good nutritional care in the management of patients with HD. Obtain early assessment by a dietitian or nutritionist and regular timely reviews of nutritional needs. Take into consideration factors such as swallowing ability, cognitive changes, behavior, mood, and general functional ability to determine possible other causes of weight loss.
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ensure a multidisciplinary approach and consider including a speech-language therapist and an occupational therapist to assist with swallowing, positioning, and feeding aids. Use screening tools for malnutrition such as the MUST.
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4.Patient education

General counseling
Provide education about the nature and presentations of symptoms in HD.
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Provide information about methods that may be helpful for modifying symptom triggers.
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