Huntington’s disease

Huntington’s disease

Health is a paramount aspect of human life. Diseases, however, compromise the overall well-being of an individual. Ailments come in different forms, and some are infectious diseases, hereditary diseases including genetic and non-genetic inherited diseases, physiological diseases and deficiency diseases. Huntington’s disease, also known as Huntington’s chorea is a disorder that results in the progressive breakdown of nerve cells in the brain. Huntington’s chorea is mainly characterized by jerky and involuntary movements, a persistent disorder of mental processes, behavioral and psychiatric disturbances. Huntington’s disease is an inherited disorder in that every child whose parent has this disorder has a likelihood of being a carrier of the faulty gene. Juvenile Huntington’s disease is the early onset of Huntington’s disease which affects mostly children and adolescents.

Huntington’s disease brings about the motor, cognitive and psychiatric disturbances with a spectrum of signs and symptoms. Symptoms that appear first varies among the affected persons. In the course of the disease, some disorders may be dominant; that is they have a more significant effect on the individual’s functionality. Motor signs and symptoms include involuntary and twisting movements. These movements are first observed in distal extremities such as toes and fingers and small facial muscles. Gradually, the involuntary movements spread to the other parts of the body. Impaired posture and balance are later observed as a result of the spread. Facial chorea can lead to continuous movements leading to slow and abnormal eye movements. Talking and swallowing becomes problematic and sometimes leading to chocking in some patients. In later stages, the patient can become dumb. The influence of motor disorders progresses with time in the patient’s life. Daily activities become more and more difficult, and performance is massively interfered with depending on the patient’s work.

Cognitive disorders are mainly changes in the execution of functions. Cognitive disturbances associated with Huntington’s disease include difficulty in the organization of tasks and lack of focus. Patients with Huntington’s disease are unable to distinguish between what is material and what can be ignored. The tendency to get stuck at thoughts or inadequate flexibility is also evident in these patients. Mental adjustments are quite hard. Patients also lack emotional control which is detrimental leading to actions without thoughts. Affected individuals experience difficulty in learning new things. Psychiatric symptoms include feeling irritable, social withdrawal, insomnia, fatigue, and loss of energy, and frequent thoughts about death. Weight loss is also common in patients with Huntington’s disease. Psychiatric symptoms are generally present in the early days of the disease.

The onset of Huntington’s disease is mostly diagnosed between the ages of 35 years and 55 years. Onset diagnosed below twenty years is known as juvenile Huntington’s disease (Quarrell et al., 2013). The start of juvenile Huntington’s disease differs from that of an adult. Symptoms of juvenile Huntington’s disease noticed in its early stages include difficulties in learning at school. Students with this condition tend to forget previously mastered academic and physical skills leading to a swift and significant drop in school performance. Children also tend to have stiff muscles that affect their manner of walking. Epileptic seizures also occur in children. Due to involuntary movements of muscles, change of handwriting is observable. Reduced motor behavior and slowness in motion are observed in motor behavior.

Besides affecting patients, Huntington’s disease has an impact on society at large. Communication between patients and family members is somehow strained.  Language comprehension, speech, and depth in conversation declines in patients and caregivers are required to make adjustments to communicate. Patients, on the other hand, are affected and view the challenges as a loss and focus on the concentration needed to talk (Hartelius, Jonsson, Rickeberg, & Laakso, 2010).  Participants, therefore, feel an emotional burden when it comes to communication, adversely affecting interactions amongst themselves necessitating intervention and frank assessment.

Decision making at family levels become a hustle. Patients with cognitive impairments are less consulted when it comes to decision making and dispute resolution. The consultative nature in problem-solving is compromised in families who have Huntington’s disease patients. Other family members are forced to assist in daily activities to make a living and take on decision-making activities (Jona et al., 2017). Financial problems also set in families with a Huntington’s disease. The management of this disease requires a lot of resources since it is a lifetime condition and has no cure. In cases where the affected person is the core breadwinner, the family suffers, and sometimes children whose parents are affected are forced to take up adult responsibilities and provide for the family. Huntington’s disease also brings emotional disturbance. People surrounding the patients are adversely affected psychologically and emotionally ending up changing their functionality.

Since Huntington’s disease is hereditary, family history is vital in diagnosis. DNA tests and brain imaging are conducted to detect Huntington disease. The condition, however, has no cure but there are many therapeutic options to manage the disease aiming at improving the quality of life of patients. Treatment may include drug prescriptions or non-medical advice. The patient’s limitations in daily life determine the kind of medicine to be offered (Roos, 2010). Involuntary movement of muscles, also known as chorea can be treated using dopamine receptor blocking or depleting agents. Common side effects of this drug are depression and sedation. Clozapine is also used when other antipsychotic drugs do not improve the mental disorder of the patients. Side effects of clozapine include weight gain and anti-depressive effects. Besides medication, there are different ways of interventions.

Affected persons require to be given the right therapy at the right time. Non-medical interventions include; speech therapy, physiotherapy, occupational therapy, advice on nutrition and dietetics, and psychological counseling. The burden may be too vast for the caregiver, and therefore they may seek the help of a nurse at home to help in taking care of the patients. With increasing dependency of the patient to the caregiver, the caregiver also needs psychological counseling to assist in the management of this disease. Support groups are essential to aid in this. Treatment should be individual-tailored since every -patients is affected uniquely. As there is no cure, treatment is mainly focused on improving the quality of lives of affected persons.

Huntington’s disease is a lifetime disease to the patient and the family. Knowledge of the disease is crucial in its management. Through this knowledge, early diagnosis can be made and the necessary intervention measures put in place. Attention is paid to patients and those at risk to mitigate the adverse effects of the disease

Reference

Hartelius, L., Jonsson, M., Rickeberg, A., & Laakso, K. (2010). Communication and Huntington’s disease: qualitative interviews and focus groups with persons with Huntington’s disease, family members, and carers. International Journal of Language & Communication Disorders, 45(3), 381–393.

Jona, C. M. H., Labuschagne, I., Mercieca, E.-C., Fisher, F., Gluyas, C., Stout, J. C., & Andrews, S. C. (2017). Families Affected by Huntington’s Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving. Journal of Huntington’s Disease, 6(3), 169–177.

Quarrell, O. W., Nance, M. A., Nopoulos, P., Paulsen, J. S., Smith, J. A., & Squitieri, F. (2013). Managing juvenile Huntington’s disease. Neurodegenerative Disease Management, 3(3), 267–276.

Roos, R. A. (2010). Huntington’s disease: a clinical review. Orphanet Journal of Rare Diseases, 5(1), 40.