Understanding Huntington’s Disease: A Progressive Neurodegenerative Disorder

Introduction

Huntington’s Disease (HD) is a rare, progressive neurodegenerative disorder that affects movement, cognition, and behavior. It usually appears in adulthood and gradually interferes with daily activities, independence, and quality of life. Early supportive care and rehabilitation play a chief role in managing symptoms.

Definition

Huntington’s Disease is an inherited neurological disorder characterized by progressive degeneration of nerve cells in specific areas of the brain, particularly the basal ganglia and cerebral cortex, leading to motor, cognitive, and psychiatric disturbances.

Etiology

• Huntington’s Disease is caused by a genetic mutation in the HTT gene on chromosome 4.
• It follows an autosomal dominant inheritance pattern, meaning a child has a 50% chance of inheriting the disease if one parent is affected.
• The mutation results in abnormal expansion of CAG repeats, leading to toxic protein accumulation in brain cells.
• Disease onset typically occurs between 30–50 years of age, though juvenile cases can occur.

Clinical Features

Clinical manifestations progress gradually and may include:

• Motor symptoms: Chorea (involuntary jerky movements), muscle stiffness, gait instability, poor coordination, and difficulty with fine motor tasks
• Psychiatric symptoms: Depression, anxiety, irritability, mood swings, apathy, and behavioral changes
• Cognitive impairment: Reduced concentration, memory loss, impaired judgment, and difficulty planning activities
• Speech and swallowing difficulties in later stages
• Progressive loss of functional independence

Physiotherapy Management

Physiotherapy plays a crucial role in maintaining mobility and functional ability:

• Balance and coordination training to reduce fall risk
• Strengthening exercises to improve postural control and muscle endurance
• Stretching exercises to reduce rigidity and maintain joint flexibility
• Gait training with assistive devices, if required
• Functional task training to promote independence in daily activities
• Breathing and relaxation exercises to manage fatigue and stress
• Caregiver education for safe handling and long-term support

Physiotherapy goals are adapted as the disease progresses, focusing on safety, comfort, and quality of life.

Conclusion

Huntington’s Disease is a lifelong, progressive neurological condition with remarkable physical and cognitive impact. Although no cure exists, early diagnosis, multidisciplinary management, and structured physiotherapy can slow functional decline, improve mobility, and enhance overall quality of life.