Huntington’s disease is an inheritable disease that causes the degeneration of nerve cells in the brain. The disease mostly affects people at an early age or later ages. It is diagnosed mainly in children between the age of seven years and eighteen years and people above the age of fifty years. The disease is linked to the HTT gene, which instructs for the formation of a protein known as huntingtin. The role of huntingtin is not well known, but it has been highly claimed to play a significant role in the nerve cells in the brain. The disease is fatal and has many effects on the life of the patient.
The disease in young children is referred to as juvenile Huntington’s disease. Mary is 15 years old, but she was diagnosed with Huntington’s disease when she was thirteen. Some changes happened to her that made her parents seek medical help. The first signs that Mary showed were the deteriorating results in the school despite her being a hard-working student. The disease leads to the deterioration of neurons, which form an essential part of the brain. Few neurons are cause remembering challenges or slow remembrance, which caused him to fail the exams. Her parents were concerned, and thus she was taken to the hospital for a checkup. She was then diagnosed with the disease. Life has changed, and she experiences different issues related to the disease.
Cognitive Symptoms and Effects
Just like most children diagnosed with juvenile Huntington’s disease, Mary often experiences forgetfulness of things that she learns or observes. Even when a person has the ability to remember, he or she may take the time to remember. Another thing that juvenile Huntington disease patients go through is a lack of flexibility (Folstein, Brandt, & Folstein, 1990). The patients face difficulties while trying to switch from one activity or thought to another. For instance, when sharing stories or explaining something to them, they get stuck to one story, and they might not discover when you are switching stories. They also lose focus quickly when doing activities, and this contributes to them committing a lot of errors in their activities (Halpin, 2011). This shows why many students suffering from the condition are more likely to make spelling mistakes, submit uncompleted work, and other errors in their work. The lack of impulse control makes the juvenile Huntington act without thinking. This makes them do some activities which they can’t reason. Lastly, they lack awareness of their abilities and behaviors.
Movement Symptoms and Effects
Mary also experiences involuntary and voluntary movement problems, which have also been associated with the disease. The first issue that juvenile Huntington patients are involuntary writhing movements, a condition called chorea (Halpin, 2011). Chorea is the involuntary movement of hands, legs, fingers, toes, arms, neck, and feet. Juvenile Huntington patients experience muscle problems, which include rigidity and muscle contracture, a condition called dystonia. They experience difficulties in speech. This can lead to stammering or other forms of the unusual pronunciation of words.
Psychiatric Symptoms and Effects
The most common psychiatric disorder associated with juvenile Huntington disease is depression. The depression is mostly as a result of the injury that is caused to the brain. The depression is also caused by continuous thinking that they will die within a specified period (Halpin, 2011). Huntington diseases last for about ten to thirty years in which a person has to die. These thoughts of death cause depression to the patients. The patients often have suicidal thoughts because they believe that they are valueless, and they will have today, maybe before achieving some dreams. Feelings of sadness and apathy are common among young patients as they cannot perform well like their regular friends.
The Course of the Disease
The disease does not affect a particular gender but has equal chances of either affecting a male or a female. Huntington disease also has equal opportunities for affecting any individual from any ethnicity. If a person inherits the genes from a parent, he or she definitely will develop the disease at some point in his or her life. The condition shows symptoms at early ages between eight and twenty and in their thirties and forties (Bates, Dorsey, Gusella, Hayden, Kay Leavitt, & Wild, 2015). It is most likely to affect people in their thirties and forties than in children. In most instances, the disease lasts for about ten to thirty years in which a person dies. The effects of the disease continue to worsen as the disease progresses. Patients in their final years of the disease might be completely unable to do some activities like speech.
Treatment and Prevention
Like most diseases that are caused by genes complications, Huntington disease does not have a cure, and eventually, a person has to die after suffering from the disease. However, doctors have come with recommendations through which parents with the disease-causing gene traits can follow to minimize the chances of getting infected by the disease (Bates et al., 2015). Vitro fertilization is one of the essential suggestions that have been made. The ovaries from a female are removed and externally fertilized using the father’s sperm in the laboratory. The Huntington gene is tested on the embryos, and only those who test negative are implanted into the mothers. This can result in children without the gene that causes diseases.
Huntington disease is a fatal brain disease that is caused by a mutation of the huntingtin gene, which is inheritable from a parent to a child. Minors who are diagnosed with the disease experience a lot of cognitive, psychiatric, and movement issues. It is advisable for parents who are at high risk of possessing the gene to attend gene screening to avoid giving birth to a child with the gene. Vitro fertilization has been a necessary procedure that helps parents to reduce the chances of inheriting the gene to their children.
Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., … & Wild, E. J. (2015). Huntington disease. Nature reviews Disease primers, 1, 15005.
Folstein, S. E., Brandt, J., & Folstein, M. F. (1990). Huntington’s disease. Oxford University Press.
Halpin, M. (2011). Diagnosis, psychiatry and neurology: The case of Huntington Disease. Social Science & Medicine, 73(6), 858-865.