Huntington′s Disease

Introduction

Huntington’s disease is an autosome dominant illness which normally starts during mid-life. It's characteristic of progressive involuntary choreiform motions, mental alterations, and dementia. George Huntington and his lineage were the first to examine the disease in families that lived in Hampton, New York. The diseases' initial cases were traced back to European people and Dutch immigrants who moved into South Africa (Smith‐Dijak et al., 2019). The Huntington’s disease transmutation was recognized in 1993 as an unbalanced extension of CAG. Hence, Huntington's disease is a brain disease transmitted genetically through families, one generation to another. Scientists confirmed that the hereditary disease is a mutated gene that keeps on generating within the DNA. Causes of Huntington’s disease

Symptoms

Huntington’s Diseases lead to the degradation of physical, cognitive, and emotional capabilities, especially during the victim's productive years, and presently, there is no defined cure for the illness (Frank et al., 2016). Most of the victims commence manifesting symptoms in adult years (30-50); however, scientists claim that it can also occur in children and youths. Known as a family illness due to its hereditary capabilities, presently, an estimated 41,000 characteristic Americans and s200, 000 others are at risk of developing the hereditary disease. Most people who experience Huntington's disease have varied symptoms, but some of the most common symptoms are behavior alterations, depression, and mood swings. Also, the rest of the victims are likely to experience amnesia and indecisive behavior. The wobbly pace, involuntary motions combined with indistinct speech usually lead to tremendous weight loss. The majority of people with Huntington’s disease have challenges with their thinking patterns, actions, and motion. Symptoms normally deteriorate after a 10-25 progression period, after which the victim's ability to think, move around, and the converse is damaged. Initially, an individual with Huntington's disease may experience difficulties while organizing, remembering, and persistently carrying out activities. The development of mood swings is in line with the expression of unease, prickliness, and aggression (Benraiss et al., 2016). Hence, this explains the reason why most individuals who have Huntington’s disease are fidgety and shaky. The uncontrolled motions are known as chorea. Huntington’s disease causes a person to lose a lot of weight involuntarily due to the inability to eat properly and focus on tasks at hand. 

Huntington’s disease Gene

 The DNA error responsible for the hereditary illness is normally located in a genetic material known as Huntingtin. All human beings have a Huntingtin gene. However, in the case of a mutation of the huntingtin gene, Huntington's disease occurs and is transmitted from one generation to another.  Genetic material consists of nucleotides, which in turn make up the DNA codes (Claassen et al., 2017). Huntington's disease occurs when C-A-G is overstretched hence straining Huntingtin’s gene. Therefore, the stretching phenomena cause a replication of the mutation in the victim's body, hence leading to Huntington's disease. Within the huntingtin gene, there are more than 20 CAG codes that repeat themselves. Still, individuals with Huntington’s disease have more than 20 replications hence spreading the mutation further and wider into the victim’s body. Thus, a person who contains an expanded CAG within the huntingtin gene will develop the illness, and each gene will be replicated in their children.

 Human genetic material is like an instructional guide for generating protein, which facilitates the operation of everything else within the body. The huntingtin gene encloses guidelines which are replicated onto a biological dispatch that later produces the huntingtin protein. The huntingtin protein is massive and performs more than one operation, especially during a brain's development. Experts have also confirmed that additional CAG is replicated in persons with Huntington's disease because the huntingtin protein is elongated and hard to retain its shape; consequently, its functionality is highly affected (Liu et al., 2020). Over the last four decades, the huntingtin protein mutation produces clusters within the brain tissue, causing a damaging effect on the brain cells. The most susceptible parts of the brain are the striatum, which controls the motion, mood, and remembrance abilities of an individual. The destructive effect on the striatum causes the manifestation of Huntington’s disease.

Impact of Huntington’s disease On Basal Ganglia

 Huntington's disease is known for its neurodegenerative disorder on its victims. The cerebral cortex and basal ganglia are extremely affected by this disease. Currently, experts have no way of medicating the disease's pain despite the expanding information on the disease. Examination of Huntington's disease depended upon the observation of inbreeding. Utilizing the standardized linkage examinations proved that the Huntingtin gene could be isolated and studied to unveil the mutation's underlying causes (Tereshchenko et al., 2019). The brain's basal ganglia region may experience slower activities due to the destruction of the brain cells. Normally, the basal ganglia part of the brain. It is important to note that Huntington's disease undergoes atrophy due to the loss of nerves and gliosis. Imagery mechanism such as CT scans shows that atrophy occurs during as the illness progresses further into the brain. There is plenty of evidence proving that an increased and diminished signal intensity within the striatum leads to extensive damage to the brain cells.

The Impact Huntington’s disease has On Parents

Huntington’s disease negatively affects the entire family unit and system by altering family situations, role functionalities, and tightening some family norms. The illness's impact varies from one family to another because Huntington's disease gradually progresses over the years. The illness constraints a family’s finances as they cater to the needs of the sick family member. Family members might be forced to deal with issues that come with having a Huntington’s disease family member. Families might experience emotional turmoil as they encounter challenges while catering to the needs of the patient (Geva et al., 2016).  The family is obligated to play its parental role to the patient and guide the patient through the day's routines. For instance, children might be forced to take up their parent’s role as the disease progresses further.  Thus, the children have to ignore their needs and give top priority to their parent’s needs. A child taking up the role of the parent helps in coping with the difficult conditions.

How Slps Treat Huntington’s disease

 Huntington’s disease varies from one patient to another.  Hence, speech-language specialists tailor their therapies to suit the needs of the patients. The SLP might begin the therapy by asking a few questions about the symptoms. For example, what the patient feels and responds to swallowing difficulties. One of the best pieces of advice is keeping a journal on the patient's challenges (Tereshchenko et al., 2019).  SLP assists the patient to learn how to eat slowly. Patients are advised to consume soft food staff. In terms of speech challenges, specialists assist the patient in performing breathing activities. They might illustrate how to carry out specific mouth motions for the sake of making communication easier.  Also, the caregivers are usually guided on minimizing distractions whenever interacting with Huntington's patients. Talking sluggishly and requesting yes and no answers help the patients nod their heads or even seek help when stuck. In terms of devices, the specialists might insist on employing assistive devices to assist the patient in communicating better and at their own pace. Examples of assistive devices are smartphones, computers, and other technological devices that can interpret facial expressions and then transmit the information onto the screen for interpretation (Claassen et al., 2017). Also, the speech-language specialist analyzes how the patient can improve on his or her own swallowing mechanisms, which in turn gives the specialist an accurate gauge of the severity of the symptoms. To take care of the patient without hindering the entire medication procedure, most specialists have to focus on attaining the most credible results and ensure that the patients are more accessible from their homes. The dietary supplement helps the patient feed and give them a chance to meet his needs. In summary, the specialists assist the patient gain the upper hand and improve feeding and oral habits.

Early Interventions

 Setting up the patient's goals helps improve the physical well-being due to the skilled mechanisms used to counter the disease's progression. The disease is known to cause impairment of the joints and speech. An early intervention equips the patient with the skills needed to retain a quality lifestyle that enables them to sustain themselves. If a speech-language specialist is to achieve success, they have to commence the treatment at the early stages of Huntington's disease. This gives room for the patient and the specialist to generate an active bond and prepare themselves for each phase (Dickey, & La Spada, 2018). One of the most effective strategies used is the compensatory strategy, where the specialist combines more than treatment is used throughout the disease's progression. Categories of interventions applied vary from one phase to another. The therapies may vary from assistive to supportive, depending on the needs of the patient. During the initial stages, the therapy has to integrate breathing workouts, formulate a routine, make changes to the diet, and ensure that the patient does not choke on the food. The specialist is teaching the patient how to adjust to Huntington's disease as it worsens the patient's physical situation.

Conclusion

 Huntington’s disease affects both the patient and the family.  The autosomal dominant disease is inherited from one generation to the next due to the mutation of huntingtin genes by expanding the CAG codes. The brain's nervous tissues deteriorate with time, leading to the loss of speech and unsteady motions. The patient develops slurred speech, and the patient easily loses functional capabilities. Early intervention is teaching the patient speech techniques that can be used to express a need. Therefore, the patient has to adapt to eating soft foods, swallowing food at a slower pace, and talking steadily but certainly. The disease does not have any medication; hence the specialists have to help the patient develop coping mechanisms. Children are forced to play the parental role to cope with the challenges that arises from dealing with Huntington’s disease. Most of the times, it takes a 10-25 period before the disease develops fully in the patient’s body. George Huntington’s family is credited for discovering the disease hereditary characteristics in certain families in New York.

 

 

References

Benraiss, A., Wang, S., Herrlinger, S., Li, X., Chandler-Militello, D., Mauceri, J., ... & Ding, F. (2016). Human glia can both induce and rescue aspects of disease phenotype in Huntington disease. Nature communications, 7(1), 1-13.

Claassen, D. O., Carroll, B., De Boer, L. M., Wu, E., Ayyagari, R., Gandhi, S., & Stamler, D. (2017). Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease. Journal of clinical movement disorders, 4(1), 3.

Dickey, A. S., & La Spada, A. R. (2018). Therapy development in Huntington disease: from current strategies to emerging opportunities. American Journal of Medical Genetics Part A, 176(4), 842-861.

Frank, S., Testa, C. M., Stamler, D., Kayson, E., Davis, C., Edmondson, M. C., ... & Vaughan, C. (2016). Effect of deutetrabenazine on chorea among patients with Huntington disease: a randomized clinical trial. Jama, 316(1), 40-50.

Geva, M., Kusko, R., Soares, H., Fowler, K. D., Birnberg, T., Barash, S., ... & Cha, Y. (2016). Pridopidine activates neuroprotective pathways impaired in Huntington Disease. Human molecular genetics, 25(18), 3975-3987.

Liu, Q., Cheng, S., Yang, H., Zhu, L., Pan, Y., Jing, L., ... & Li, X. J. (2020). Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice. Proceedings of the National Academy of Sciences, 117(33), 20265-20273.

Smith‐Dijak, A. I., Sepers, M. D., & Raymond, L. A. (2019). Alterations in synaptic function and plasticity in Huntington disease. Journal of neurochemistry, 150(4), 346-365.

Tereshchenko, A., Magnotta, V., Epping, E., Mathews, K., Espe-Pfeifer, P., Martin, E., ... & Nopoulos, P. (2019). Brain structure in juvenile-onset Huntington disease. Neurology, 92(17), e1939-e1947.