Huntington’s Disease

Overview of Huntington’s Disease

Huntington’s disease is a rare and progressive neurological disorder caused by a genetic mutation that leads to the gradual breakdown of nerve cells in the brain. This condition affects movement, cognition and behavior, worsening over time. Symptoms typically appear between the ages of 30 and 50 but can also occur earlier or later. Currently, there is no cure, but treatments can help manage symptoms and improve quality of life.

Types of Huntington’s Disease

1. Adult-Onset Huntington’s Disease: The most common type with symptoms appearing in mid-adulthood.

2. Juvenile Huntington’s Disease: A rare form that develops before the age of 20, with faster progression and distinct symptoms such as stiffness, learning difficulties and seizures.

Symptoms of Huntington’s Disease

• Movement Disorders: Involuntary jerking (chorea), muscle rigidity, slow movements and difficulty with balance.
• Cognitive Decline: Memory loss, trouble concentrating, difficulty organising tasks and impaired judgment.
• Psychiatric Symptoms: Depression, mood swings, anxiety, irritability and personality changes.
• Speech and Swallowing Issues: Difficulty in speaking clearly and swallowing food or liquids.

Causes of Huntington’s Disease

• Genetic mutation: Huntington’s disease is caused by a defect in the HTT gene, leading to the production of toxic proteins that damage brain cells.
• Hereditary nature: It is an autosomal dominant disorder, meaning a child has a 50 percent chance of inheriting the condition if one parent carries the faulty gene.
• Brain cell degeneration: The buildup of abnormal proteins affects the basal ganglia, the part of the brain responsible for movement and cognitive functions.

Complications in Huntington’s Disease

• Loss of independence: As symptoms worsen, individuals may require assistance with daily activities.
• Difficulty swallowing: A major concern that increases the risk of choking and malnutrition.
• Mental health deterioration: Higher chances of developing depression, anxiety and suicidal thoughts.
• Pneumonia and infections: Weak muscles and swallowing problems make respiratory infections more common.
• Reduced lifespan: Most individuals live between ten to thirty years after symptoms appear, with increasing dependence on caregivers over time.

Risk Factors of Huntington’s Disease

• Family history: A person with an affected parent has a high chance of inheriting the disease.
• Genetic inheritance: The faulty gene is passed down from generation to generation, with no exceptions once inherited.
• Early onset cases: The juvenile form of Huntington’s disease, though rare, tends to be more severe and progresses rapidly.

Preventions of Huntington’s Disease

• Genetic counseling: Individuals with a family history of Huntington’s disease can seek expert advice before planning a family.
• Prenatal and preimplantation genetic testing: Options such as in-vitro fertilization (IVF) with embryo screening can help prevent passing the disease to future generations.
• Early lifestyle adjustments: While the disease cannot be prevented, adopting a healthy lifestyle may help manage early symptoms.