Understanding Huntington's Disease: Causes, Symptoms, and Management

Huntington's disease (HD) is a hereditary neurological disorder that impacts the brain and central nervous system. Typically manifesting in adulthood, it affects both men and women, leading to gradual decline in motor skills, memory, and behavior. Approximately 1 in 10,000 Americans live with HD. As an inherited condition, each child of an affected parent has a 50% chance of inheriting the faulty gene. According to the Huntington's Disease Society of America, about 30,000 Americans show symptoms, with over 200,000 at risk.

HD is caused by a defective gene on chromosome 4, which disrupts production of the huntingtin protein. When malfunctioning, this protein damages brain cells, especially in the basal ganglia and cortex—areas involved in movement and cognition. Symptoms typically appear between ages 30 and 50 but can occur earlier or later, involving cognitive, psychiatric, and motor issues.

Cognitive Signs: Difficulty focusing, organizing tasks, and adapting to change. Behavioral rigidity, emotional outbursts, and impulsivity are common.

Mental Health Symptoms: Depression, social withdrawal, irritability, mood swings, and obsessive behaviors may develop.

Physical Complications: Involuntary jerking, muscle rigidity, impaired coordination, speech and swallowing difficulties, and weight loss.

Diagnosis involves reviewing family history, neurological exams, psychiatric assessments, brain imaging, and genetic testing. Understanding one's genetic risk allows for early intervention and counseling. Currently, there is no cure for HD. Treatment focuses on symptom management with medications, alongside physical, speech, occupational therapy, and psychological support to improve quality of life.