Huntington's Disease: Symptoms, Causes, And Treatment

Huntington's Disease (HD) is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. It has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Understanding Huntington's Disease

Huntington's disease is caused by a single defective gene on chromosome #4, one of the 23 human chromosomes that contain a person's entire genetic code. The defective gene, called HTT, codes for a protein called huntingtin. The defect causes the protein to be abnormally large and misshapen, leading to disruptions in brain function. Every child of a parent with Huntington's disease has a 50% chance of inheriting the gene and, therefore, developing the disease.

Symptoms of Huntington's Disease

The symptoms of Huntington's disease can vary significantly from person to person. Some of the most common symptoms include:

• Movement Disorders: These may include involuntary jerking or writhing movements (chorea), muscle rigidity, slow or abnormal eye movements, and impaired posture and balance.
• Cognitive Impairments: These may include difficulty organizing, prioritizing or focusing on tasks, lack of impulse control, lack of awareness of one's own behaviors and abilities, slowness in processing thoughts or finding words, and difficulty in learning new information.
• Psychiatric Disorders: These may include feelings of irritability, sadness, or apathy, social withdrawal, insomnia, fatigue, and frequent thoughts about death, dying or suicide.

Causes and Risk Factors

Huntington's disease is a genetic disorder, meaning it is caused by an inherited gene. The primary risk factor for Huntington's disease is having a parent with the disease. If one parent has Huntington's disease, there is a 50% chance that their child will inherit the gene and eventually develop the disease. Genetic testing can confirm the diagnosis.

Diagnosis and Treatment

Diagnosis typically involves a neurological examination and a review of the individual's medical and family history. Genetic testing can confirm the presence of the Huntington's disease gene.

There is no cure for Huntington's disease, and treatments are aimed at managing symptoms and improving the quality of life. These may include:

• Medications: To help control movement disorders and psychiatric symptoms.
• Therapy: Physical, occupational, and speech therapy can help manage physical and cognitive symptoms.
• Support: Counseling and support groups can provide emotional support for individuals and their families.

Living with Huntington's Disease

Living with Huntington's disease can be challenging, but there are many resources available to help individuals and their families cope with the disease. A multidisciplinary team of healthcare professionals can provide comprehensive care and support. Support groups and online forums can connect individuals with others who understand what they are going through. Learn more about Huntington's Disease research and support.