DNP 810 Week 1 Case Study Part 1: Huntington’s Disease

DNP 810 Week 1 Case Study Part 1: Huntington’s Disease

            Huntington’s disease is a form of genetic brain condition that is extremely rare and progressive. It is defined by the gradual degeneration of nerve cells in the brain, which ultimately leads to emotional problems, cognitive loss, and movement that is not under the person’s control (Kim et al., 2020). There is no specific age at which symptoms of Huntington’s disease first appear; nevertheless, the vast majority of cases are documented in people between the ages of 30 and 40. If a person exhibits symptoms of Huntington’s disease before the age of 20, however, the condition is referred to as juvenile Huntington’s disease. A quick worsening of symptoms is connected with an early onset of the disease. The Food and Drug Administration has given its blessing to a number of different drugs for the treatment of the symptoms of Huntington’s disease. However, the treatments that are currently accessible have not been successful in halting the related loss in mental and physical health. The objective of this paper is to provide a full overview of Huntington’s disease, beginning with its prevalence and diagnosis and continuing on to novel treatment options and the role that scientific evidence plays in the promotion of the disorder’s care.

Huntington’s disease

            Mutations in the HTT gene, which involve a CAG trinucleotide repeat DNA sequence, are the root cause of the extremely rare brain condition known as Huntington’s disease. Children who are born to parents who are affected with Huntington’s disease have an increased risk of developing the disorder themselves. Studies show that children who are born to parents who have Huntington’s disease have a one in two chance of having the disorder themselves and can pass it on to their own children. This risk increases to one in three if both parents have the disease. According to the research conducted by Long et al. (2018), the prevalence of Huntington’s disease in Europe ranges from three to seven per one hundred thousand people. On the other hand, the occurrence of the condition is far less common in some cultures, such as those of Chinese, Japanese, and African heritage.

Juvenile-onset Huntington’s disease and adult-onset Huntington’s disease are the two basic subtypes of the ailment. It is unusual for juvenile Huntington’s disease to manifest in either infancy or adolescence, but when it does, it can be fatal. It has been connected to problems in the social, mental, and emotional domains. Patients suffering from this condition will have symptoms such as drooling, slurred speech, rigidity, frequent falls, clumsiness, and delayed mobility. In most cases, as their academic performance gets worse, they also experience a decline in their ability to reason.

According to Aziz et al. (2018)’s findings, the incidence of seizure disorders in children diagnosed with juvenile Huntington’s disease ranges from 30 to 50 percent. The symptoms of this condition worsen far more quickly than those of adult-onset Huntington’s disease. After the first manifestation of symptoms, the average lifespan of a patient diagnosed with this condition ranges from ten to fifteen years. Adult-onset Huntington illness, on the other hand, is the most common form of the condition, and symptoms typically begin to appear between the ages of 30 and 40 in affected individuals. Patients who have this condition will have trouble learning new information, making decisions, coordinating their motions, experiencing minor involuntary movements, feeling depressed, and being irritable (Tabrizi et al., 2020). The progression of the disease is marked by an increase in the severity of the involuntary movements, which occur alongside the worsening of the other symptoms. After the first manifestation of symptoms, patients who have been diagnosed with adult-onset Huntington’s disease normally live between 15 and 20 years on average.

Diagnostic Tests

            A blood sample will be taken from the patient in order to perform genetic testing in order to identify Huntington’s disease (HD). Polymerase chain reaction (PCR) testing and fragment sizing will be performed on the cytosine-adenine-guanine (CAG) trinucleotide repeat region of the HTT gene as part of the investigation (Kim et al., 2020). Tests like these can be given to those who have a history of Huntington’s disease in their families, regardless of whether or not they have any symptoms themselves. In most cases, the findings of these tests are coupled with those of other neurological and laboratory examinations. This is done in addition to the patient’s medical history. The patient’s motor, sensory, and mental symptoms will be evaluated throughout the course of the neurological examination. As part of the neuropsychological evaluation, the patient will be given standardized tests to measure their thinking, language abilities, mental agility, and memory. In order to refine the diagnosis, brain scans such as electroencephalography (EEG), computed tomography (CT), and magnetic resonance imaging (MRI) could be ordered and examined.           

FDA Regulations on New Pharmaceutical Agents

            An international task force has been established by the European Huntington’s Disease Network (EHDN) with the mission of developing treatment guidelines for the management of Huntington’s disease that are founded on scientific data (HD). Tetrabenazine is generally regarded as the medication of choice for controlling the symptoms of this condition at this stage. The treatment of patients suffering from the chorea that is linked with Huntington’s disease using the pharmaceutical Austedo (deutetrabenazine) has been given the green light by the FDA (Stahl & Feigin, 2020). Chorea is characterized by abrupt, erratic, and uncontrollable movements, and it is seen in patients who have Huntington’s disease. The medicine was given the green light for sale following a phase 3 research that proved it was both efficacious and safe in treating chorea. On the other hand, there is a correlation between having this disorder and having a greater risk of suicidal thoughts and depression. The Food and Drug Administration (FDA) has established stringent policies under the New Drug Application (NDA) that require exhaustive testing for the safety and efficacy of new products. These policies must be met before the new products can be incorporated into clinical guidelines for the management of Huntington’s disease.

The Role of Economy in Scientific Advances

            The conduct of research, which normally requires a substantial amount of financial investment, is essential to the development of scientific knowledge. In contrast to the past, it is now much more difficult to qualify for grants and to obtain money for research. This is especially true for discovery-based scientific fields, which require the examination of vast databases in order to detect patterns and correlations (Kim et al., 2020). This type of analysis is particularly useful in the current era of omics since it allows for the formulation of novel scientific hypotheses and the debunking of long-held dogmas (Tabrizi et al., 2020). Some of the experiments that are being offered by scientists today have had some adjustments made to them as a result of the restricted money and grants available for scientific research. For instance, review committees for grants are more interested in research proposals that focus on finding solutions to problems, such as novel targets in the prevention of pathogenic infection, rather than the discovery of new drugs for incurable conditions, such as Huntington’s disease, which could take a significant amount of time.

The Role of Family Involvement

            Since Huntington’s disease is an inherited condition, it is imperative that the patient’s family members be involved in the decision-making process involving genetic testing for early identification and the management of symptoms. The illness has a substantial impact both emotionally and physically, and the awareness that other members of the family may also be at risk causes stress (Stahl & Feigin, 2020). On the other hand, individuals of the patient’s family and friends who provide assistance to the patient may be at an elevated risk for poor health, social isolation, and depression as a result of their involvement. In order to improve the patient’s health, it is imperative to have a conversation with the treating physician about group therapy and any other forms of supportive treatment that may be available.

Conclusion

            Huntington’s disease is a form of neurodegeneration that is passed down via families and most often affects adults, but it can also show up in children. In most cases, the condition is identified as such based on the findings of genetic testing in addition to imaging procedures like CT scans and EEGs. Although there is no known cure for the condition, the Food and Drug Administration (FDA) has given its approval to novel medicines and put those treatments into clinical treatment guidelines for the management of symptoms that people with the disease may experience.

References

Aziz, N. A., van der Burg, J. M., Tabrizi, S. J., & Landwehrmeyer, G. B. (2018). Overlap between age-at-onset and disease-progression determinants in Huntington disease. Neurology, 90(24), e2099-e2106. https://doi.org/10.1212/WNL.0000000000005690

Kim, K. H., Hong, E. P., Shin, J. W., Chao, M. J., Loupe, J., Gillis, T., … & Lee, J. M. (2020). Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects. The American Journal of Human Genetics, 107(1), 96-110. https://doi.org/10.1016/j.ajhg.2020.05.012

Long, J. D., Lee, J. M., Aylward, E. H., Gillis, T., Mysore, J. S., Elneel, K. A., … & Gusella, J. F. (2018). Genetic modification of Huntington’s disease acts early in the prediagnosis phase. The American Journal of Human Genetics, 103(3), 349-357. https://doi.org/10.1016/j.ajhg.2018.07.017

Stahl, C. M., & Feigin, A. (2020). Medical, surgical, and genetic treatment of Huntington’s disease. Neurologic Clinics, 38(2), 367-378. https://doi.org/10.1016/j.ncl.2020.01.010

Tabrizi, S. J., Flower, M. D., Ross, C. A., & Wild, E. J. (2020). Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities. Nature Reviews Neurology, 16(10), 529-546. https://doi.org/10.1038/s41582-020-0389-4