Case Study Part 1: Huntington’s Disease

Case Study Part 1: Huntington’s Disease

 

Case Study Part 1: Huntington’s Disease

Huntington’s disease is a rare progressive brain disorder that is inherited. It is characterized by progressive degeneration of nerve cells in the brain causing emotional problems, loss of thinking ability, and uncontrolled movement (Kim et al., 2020). The signs and symptoms of Huntington’s disease can start presenting at any time, with most cases reported at the ages of between 30 to 40 years. However, when an individual develops the disorder before the age of 20 years, it is referred to as juvenile Huntington’s disease. Development of the disease early in life promotes worsening of the symptoms with a high rate of progression. Several medications have been approved by the FDA for the management of the symptoms of Huntington’s disease. However, the available treatments have failed to prevent mental, behavioral, and physical decline associated with the disease. The purpose of this paper is to provide a comprehensive understanding of Huntington’s disease from prevalence and diagnosis to new treatment approaches and the role of scientific evidence in promoting the management of the disorder.

Huntington’s disease

Huntington’s disease is a rare brain disorder caused by mutations in the HTT gene, involving a DNA sequence known as CAG trinucleotide repeat. The defect is ‘dominant’ meaning that children born of parents with Huntington’s disease are at higher risk of inheriting the disorder. Studies show that children born of parents with Huntington’s disease have a 50% chance of developing the condition, as well as being able to pass the disease to their children thereafter. According to Long et al. (2018),approximately 3 to 7 per a hundred thousand people of European ancestry are affected by Huntington’s disease. The disorder is however less common among members of some communities such as the Chinese, Japanese, and those of African descent.

There are two main forms of the disorder, known as juvenile Huntington’s disease and adult-onset Huntington disease. Juvenile Huntington’s disease is less common and begins in childhood or adolescence. It is associated with social, mental, and emotional problems. Patients will display symptoms such as drooling, slurred speech, rigidity, frequent falling, clumsiness, and slow movement. Their reasoning ability is normally impaired with declining school performance. As reported byAziz et al. (2018) seizures develop in 30 to 50% of children diagnosed with juvenile Huntington’s disease. This disorder tends to progress faster as compared to adult-onset Huntington’s disease. Diagnosed patients with this disorder normally live up to 10 to 15 years from the time the symptoms started appearing.

Adult-onset Huntington disease on the other hand is the most common form of the disorder which develops among individuals between the ages of 30 to 40 years. Patients will present with learning problems, poor decision-making, poor coordination, small involuntary movements, depression, and irritability (Tabrizi et al., 2020). As the disease progresses, the involuntary movements become more pronounced as other symptoms worse. Patients diagnosed with adult-onset Huntington’s disease usually live for about 15 to 20 years from the time the first symptoms appeared.

Diagnostic Tests

            For the diagnosis of Huntington’s disease (HD),the patient’s blood sample will be collected for genetic testing. The test will involve Polymerase chain reaction (PCR) testing and fragment sizing of the cytosine-adenine-guanine (CAG) trinucleotide repeat region of the HTT gene (Kim et al., 2020). These tests can be performed for both the individual with symptoms and the asymptomatic ones with a family history of Huntington’s disease. The results from these tests are normally combined with other neurological and laboratory tests in addition to patient history. The neurological examination will involve testing the patient for motor, sensory and psychiatric symptoms. Neuropsychological testing will involve performing standardized tests to assess the patient’s reasoning, language skills, mental agility, and memory. Brain scans such as electroencephalography (EEG), computer tomography (CT), and magnetic resonance imaging (MRI) may be ordered and reviewed to build on the diagnosis.       

FDA Regulations on New Pharmaceutical Agents

            The European Huntington’s Disease Network (EHDN) came up with an international task force to develop evidence-based treatment guidelines for the management of Huntington’s disease (HD).Tetrabenazine is considered the first-line for the management of symptoms associated with this disease. The drugs, under the name Austedo (deutetrabenazine),was approved by the FDA for the treatment of patients with chorea associated with Huntington’s disease (Stahl & Feigin, 2020). Chorea presents in the form of involuntary, sudden, and random movements among patients with Huntington’s disease. The medication was approved following a phase 3 study which assessed its efficacy and safety in reducing chorea. It is however associated with increased risks of suicidal thought and depression. The FDA has thus outlined strict policies under the New Drug Application (NDA) which require thorough testing for the safety and efficacy of new products before being incorporated into clinical guidelines for the management of Huntington’s disease.

The Role of Economy in Scientific Advances

Scientific advances depend on research which usually requiresa substantial amount of money. Unlike before, it is currently challenging to qualify for grants or gain research funding,especially for discovery-based science which requires the analysis of large databases to locate patterns and correlations (Kim et al., 2020). Through such analysis, new hypotheses are formulated and dogma refuted especially as it applies to science in the current ‘‐omics’ era (Tabrizi et al., 2020). Due to limited funds and grants for scientific research,some changes have been made to the type of experiments scientists are proposing nowadays. For instance, grant panels are more interested in research proposals focusing on solving problems like novel targets in the prevention of pathogenic infection, rather than the discovery of new drugs for conditions with no cure, which might take a lot of time, like Huntington’s disease.

The Role of Family Involvement

Given that Huntington’s disease is hereditary, the family members of the patient with the disease must be involved in decision making such as the need for genetic testing for early diagnosis and management of the symptoms. The condition possesses a strong emotional impact with stress associated with the knowledge that other family members may be at risk (Stahl & Feigin, 2020). On the other hand, family members and friends who assist their loved ones suffering from the disease may also portray increased risks of poor health, isolation, and depression. As such, it is important to discuss with the medical practitioner about getting supportive care such as group therapy to promote their well-being.

Conclusion

            Huntington’s disease is a hereditary neurodegenerative disorder common among adults but can also start at an early age. The disorder is usually diagnosed based on results obtained from genetic testing among other imaging studies such as CT scans and EEG. There is no cure for the disorder, but new treatments have been approved by the FDA and incorporated in clinical treatment guidelines for the management of symptoms displayed by patients with the disease.

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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

You will be creating a case study in stages over four course topics. Use an example from your own personal practice, experience, or own personal/family (however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment). Examples might include a patient with Duchesne’s muscular dystrophy. Huntington’s disease, Down’s syndrome, sickle-cell anemia, BRCA 1 or BRCA 2 mutations, or another genetic disorder that you or the organization in which you practice may specialize in treating.

General Requirements:

Use the following information to ensure successful completion of the assignment:

This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
This assignment requires that at least two additional scholarly research sources related to this topic and at least one in-text citation for each source be included.
You are required to submit this assignment to LopesWrite. A link to the LopesWrite technical support articles is located in Class Resources if you need assistance.
Directions:

For this assignment (Part 1 of the Case Study), write a paper (1,000-1,250 words) incorporating genetics information learned from assigned readings in Topics 1 and 2. Include the following:

Description of the disease, its prevalence, and its incidence.
Discussion of laboratory testing that is possible.
Guidelines and reasons behind the FDA regulations for introducing new pharmaceutical agents (policy).
The role that money and grants play in scientific advances; the economics of health care (capitalism).
The role and involvement family plays in the health care decision.