مرض هنتنغتون

Definition

Huntington’s disease is an autosomal dominant disorder causing progressive degeneration of brain areas controlling movement, thinking and mood, usually starting between 30 and 50.

Inheritance

Each child has a 50% risk; predictive genetic testing is available after counselling.

Symptoms

• Involuntary chorea, later gait and swallowing difficulty
• Mood changes: depression, irritability, anxiety
• Declining planning and concentration, then dementia
• High suicide risk

Treatment

• No disease-stopping treatment
• Drugs to reduce chorea (such as tetrabenazine, monitoring for depression)
• Antidepressants and antipsychotics as needed
• Physio, occupational and speech therapy

Nursing care

• High-calorie diet because the movements use much energy
• Swallow assessment and choking prevention
• Fall prevention
• Ask directly about suicidal thoughts
• Family support and advance planning

Exam point

Genetic counselling is essential before predictive testing because the result affects the person and family psychologically and socially.