An Analysis of Huntington’s Disease

The disease that I have chosen for my research essay is most commonly known as ‘Huntington’s Disease’ or by its scientific name, ‘Huntington's chorea’. Huntington’s disease is a neurodegenerative disorder that progresses over time, causing the death of brain cells, usually manifesting in individuals in their 30s to 40s. Huntington’s disease is hereditary and dominant, meaning that if one parent has Huntington’s disease, there is a significant risk of passing it on to their offspring (Walker, 2007).

Historical Background

Huntington’s disease is named after George Huntington, who first described it in East Hampton, Long Island in 1872. In those days, individuals with Huntington’s disease were often thought of as devils due to the lack of understanding of the condition. It wasn't until 1993 that a group of investigators discovered the gene responsible for Huntington’s disease, shedding light on its genetic causes (Gusella et al., 1993).

Symptoms and Progression

Huntington’s disease can start to show symptoms at any age, but it usually becomes evident later in life. The symptoms vary greatly from person to person. Initially, the symptoms may manifest as very subtle changes, such as alterations in coordination, fidgety movements, difficulty in problem-solving, and depression or irritability. Over time, the symptoms progress to become more obvious and severe, ultimately resulting in the inability to walk and speak, along with intense fidgety movements (Roos, 2010). Additionally, cognitive decline and psychiatric disorders are common as the disease progresses, further complicating the patient's quality of life.

Risk Factors and Genetic Inheritance

Individuals who are at the highest risk for this disease are those with a parent or parents diagnosed with Huntington’s disease. An offspring of an affected parent has a 50% chance of inheriting the disease. There is currently no way to prevent Huntington’s disease once inherited; therefore, potential parents can only avoid passing it on to future children through genetic testing prior to conceiving or by opting for in vitro fertilization (Kay et al., 2000).

Diagnosis

The diagnosis of Huntington’s disease is primarily based on a combination of basic medical questions, inquiries about family history, and tests evaluating motor skills, including reflexes, muscle strength, muscle tone, and coordination. A neurologist will also assess the patient's sense of touch, hearing, mental status, memory, mental agility, and language function. Advances in neuroimaging have also provided additional tools to assess brain changes associated with the disease (Tabrizi et al., 2011).

Treatment and Management

The management of Huntington’s disease mainly involves controlling symptoms through medications, speech or language therapy, nutritional support, exercise, and physical therapy. While there is no cure, these interventions can help improve the quality of life for those affected by the disease (Frank, 2014).

Genetic Testing and Technological Advances

Using blood samples, genetic testing, and prenatal testing are technological methods involved in diagnosing Huntington’s disease. These are usually the most effective means of discovering the presence of the disease. Genetic counseling is often recommended for individuals with a family history of Huntington's to better understand the risks and implications of the genetic tests (Quarrell, 2008).

References:

• Frank, S. (2014). Treatment of Huntington’s Disease. Neurotherapeutics, 11(1), 153-160.
• Gusella, J. F., Wexler, N. S., Conneally, P. M., et al. (1993). A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306, 234-238.
• Kay, C., Hayden, M. R., & Leavitt, B. R. (2000). Epidemiology of Huntington's disease. Clinical Genetics, 57(5), 331-341.
• Quarrell, O. (2008). Huntington’s Disease: The Facts. Oxford University Press.
• Roos, R. A. (2010). Huntington’s disease: A clinical review. Orphanet Journal of Rare Diseases, 5(1), 40.
• Tabrizi, S. J., Scahill, R. I., Owen, G., et al. (2011). Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington’s disease in the TRACK-HD study: Analysis of 36-month observational data. Lancet Neurology, 12(7), 637-649.
• Walker, F. O. (2007). Huntington’s disease. The Lancet, 369(9557), 218-228.