Huntington Disease

This article provides a detailed overview of Huntington's disease (HD), an inherited progressive neurodegenerative disorder. It outlines the genetic basis of HD, its clinical features including chorea, cognitive impairment, and psychiatric symptoms, and emphasizes the lack of a cure or disease-modifying treatment. The article discusses a range of therapeutic approaches focusing on symptom management, encompassing multidisciplinary care, pharmacological treatments for various symptoms, and the importance of palliative care.

Genetic Basis and Clinical Manifestation of Huntington Disease

Huntington disease (HD) is an inherited progressive neurodegenerative disorder caused by an expansion of the CAG trinucleotide in the huntingtin gene. Clinically, HD is characterized by chorea, dementia, and psychiatric illness. The cognitive impairment feature of HD is executive dysfunction, and psychiatric symptoms include irritability, depression, and psychosis.

Treatment Approaches for HD

There is no cure or disease-modifying treatment for HD. Therapy is focused on symptom management and supportive care to improve the patient's quality of life. Multidisciplinary care involving various specialists is crucial.

Management of Chorea in HD

Management of chorea includes non-pharmacological interventions and pharmacological therapy with dopamine depleting agents such as tetrabenazine or deutetrabenazine. Antipsychotic drugs like risperidone, olanzapine, and aripiprazole may be beneficial for chorea associated with agitation and psychosis.

Cognitive Impairment and Dystonia Management

Cognitive impairment and dementia might respond to cholinesterase inhibitors like donepezil, galantamine, or rivastigmine. Non-pharmacological options for dystonia include physical and occupational therapy, while pharmacological treatment includes baclofen and botulinum toxin injections.

Approach to Bradykinesia, Rigidity, and Psychosis

Bradykinesia and rigidity generally do not require treatment, and pharmacological treatment of chorea may worsen these symptoms. For psychosis, quetiapine and olanzapine may be helpful.

Importance of Palliative Care in HD

Palliative care is vital in HD as it focuses on relieving suffering and supporting the best possible quality of life for patients and their families. Advance care planning is also an important aspect of care.

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