Understanding Huntington’s Disease: Essential Facts You Need to Know

Huntington’s disease (HD) is a hereditary, often fatal neurological disorder characterized by progressive brain cell deterioration. It typically manifests in individuals aged 30 to 40, though earlier onset can occur, known as juvenile Huntington’s, which progresses faster and presents different symptoms. Currently, around 30,000 Americans live with HD, with approximately 200,000 at risk due to family history.

Cause
HD is caused by a mutation in the HTT gene, which disrupts the production of the huntingtin protein crucial for nerve cell function. This mutation leads to the formation of toxic fragments that accumulate within neurons, impairing their activity.

Stages of Huntington’s Disease

• Early Stage: Symptoms include involuntary movements, cognitive challenges, and depression. Medications can manage these symptoms, but disease progression continues.
• Middle Stage: Motor control declines noticeably; rehabilitation and speech therapy become essential.
• Late Stage: Complete dependence on caregiving, loss of speech, inability to walk, and choking risks are prominent symptoms.

Signs and Diagnostic Tests

Symptoms resemble other neurological conditions and typically worsen over 15-20 years. Common signs include mood swings, personality changes, memory issues, involuntary movements, and restlessness. Diagnostic confirmation involves neurological and psychological assessments, brain imaging, and most definitively, genetic testing with patient consent. Genetic counseling is recommended prior to testing.

Management and Treatment

Currently, there is no cure for HD, and treatments focus on alleviating symptoms. Medications are available but may have adverse effects, leading many to avoid them. Supportive therapies and symptom management remain vital components of patient care.