4H Leukodystrophy Essay Paper
4H Leukodystrophy is a relatively rare but extremely dangerous diseas that involves the complex of health problems which have a considerable impact on the quality of life of patients and are not curable. The latter means that patients are likely to die, if they get 4H Leukodystrophy because existing methods of treatment do not provide the efficient remedy that can help patients to recover. Instead, the contemporary treatment is supportive and focuses on the suppression of symptoms of the disease to slow down its progress and, thus, to prolong the life of patients. In such a situation, the identification of the root cause of the disease is essential. Even though cntemproary scientists have already identified the genetic nature of the disease, the specific cause of this disease is still unknown and the genetic mechanism that triggers the development of 4H Leukodystrophy is yet to discover for scientists, while the understanding of the genetic mechanism of the development of the disease can help to find more effective methods of treatment or even prevention of the disease. Therefore, 4H Leukodystrophy is a serious condition that requires the early diagnosis and effective treatment, but existing methods of diagnosing and treatment are apparently imperfect and fail to provide patients with reliable and effective methods that can guarantee the complete recovery of patients, whereas the mortality rate from the disease is very high. 4H Leukodystrophy Essay Paper
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The essence of the disease
4H Leukodystrophy is a life threatening disease which has a considerable impact on the quality of life of patients. In its essemce, 4H Leukodystrophy is a syndrome that involves the shortage for hypomyelination, hypotgonadotropic hypogonadism, and hypodontia (Kohlschutter & Eichler, 2011). Therefore, the disease involves 4 H which are in the name of the disease but which also denote conditions which affect the patient’s health and aggravate the wellbeing of the patient drastically. The combination of hypomyelination, hypotgonadotropic hypogonadism, and hypodontia is destructive and leads to the fast and considerable decline of the patient health. This is why patients diagnosed with 4H Leukodystrophy often face the risk of being diagnosed with either of the four H which are in the name of the disease. The presence of four different conditions on one disease makes the disease particularly difficult to diagnose. However, the disease progresses fast and the manifestation of symptoms and their detailed analysis can help to distinguish 4H Leukodystrophy from either of the four H. 4H Leukodystrophy Essay Paper
The progress of the disease is quite fast, while researchers (Yang & Prabhu, 2014) argue that children with 4H Leukodystrophy are likely to live for 5-8 years after being diagnosed, whereas adults may live over a decade. The disease is relatively new or, to put it more precisely, it was discovered relatively recently. The complexity of the disease makes it very difficult to treat and, at the moment, health care professionals experience considerable difficulties with 4H Leukodystrophy because of the high death rate among patients, including both children and adults, although adults prevail among the population with 4H Leukodystrophy. Inherited leukodystrophies are associated with substantial morbidity and mortality in children. Overall population incidence is higher than generally appreciated (Bonkowsky, et al., 2010). Researchers (Duchange, et al., 2014) argue that patients at the age of 40 and above are in the risk group because the share of patients of this age group is the highest so far. Nevertheless, the development of the disease is equally dangerous for all patients regardless of their age, or gender, or whatever other physical features.
The causes of the disease
4H Leukodystrophy syndrome is a genetic disorder. Therefore, the major driver of the disease is genetic factor, but genetic basis of the disease is however still not known (Singh, et al., 2012). In other words, scientists know that the genetic disorder triggers the development of 4H Leukodystrophy, but they have not identified the specific mechanism and gene responsible for the development of the disease. This is why causes of the disease are clearly genetic but how the disease emerges and how genes malfunction to provoke the development of the disease is still unclear. Studies in this field carry on but there has no substantial progress been made so far. Nevertheless, studies in this field at the genetic level may help to reveal the root cause and the mechanism of the development of the disease and localize the gene and gene disorder responsible for the development of 4H Leukodystrophy.
Diagnosis and symptoms of the disease
The diagnosis of the 4H Leukodystrophy is challenging because the disease has symptoms of four different disorders which may intervene and intertwine. Such intersection of symptoms makes it difficult for health care professionals to make the right and accurate diagnosis fast. Instead, there is a risk that the condition of a patient with 4H Leukodystrophy may be diagnosed as one of the four H. Nevertheless, the observation of the patient and the analysis of his/her condition and changes that occur to the patient under the impact of the disease allow diagnosing the condition of the patient and reveal whether the patient has 4H Leukodystrophy or a different disease which has similar symptoms.4H Leukodystrophy Essay Paper
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As a rule, 4H Leukodystrophy syndrome is diagnosed on the basis of the clinical symptoms, especially ataxia and delayed dentition or hypodontia, in combination with the results of an MRI, which shows hypomyelination (lack of myelin in the brain) and cerebellar atrophy (volume loss of the cerebellum which is a part of the brain) (Yang & Prabhu, 2014). Such complex examination of patients allows reaching the high level of accuracy and decreases the risk of errors in the diagnosis. As 4H Leukodystrophy is a rare genetic disorder, health care professionals do not always conduct all the procedures to diagnose the disease that leads them to the wrong diagnosis, while the disease becomes ultimately clear, when the condition of patients’ health deteriorates drastically. This is why the accurate diagnosis of 4H Leukodystrophy is pivotal for early interventions which can help to decrease the destructive impact of the disease and postpone its lethal impact on patients.
At the same time, there are symptoms that are characteristics of 4H Leukodystrophy. Researchers (Duchange, et al., 2014) divide these symptoms into neurological symptoms and other symptoms which are not always present but frequently occur in patients with 4H Leukodystrophy. Neurological symptoms include: late walking, early-onset ataxia (problems with balance and fine motor skills), deterioration of ataxia with infections with complete or partial recovery, slow progression of ataxia over time, dysarthria (speech is difficult to understand), later, development of spasticity (abnormally stiff muscles and restricted movements), seizures (these are rare).
Other symptoms of 4H Leukodystrophy include: some teeth may be already present at birth (natal teeth), dentition (eruption of teeth) is delayed, and the first teeth to erupt are the deciduous molars, not the incisors as usual. Upper medial incisors erupt late, often after the age of 6 years, some of the teeth, especially of the permanent teeth, may be missing (hypodontia) or are have an unusual shape. Normal puberty development is absent. Short stature may develop during childhood. Myopia (short sightedness) is common (Pouwells, et al., 2014). All these symptoms may but not necessarily are present in patients with 4H Leukodystrophy but if many of the aforementioned symptoms are present in the patient, the risk of having 4H Leukodystrophy is very high. 4H Leukodystrophy Essay Paper
Treatment of the disease
The problem of 4H Leukodystrophy is the lack of the full understanding of the root cause of the disease and the mechanism of the genetic failure that leads to the development of the disease. The elimination of the root cause or, at lest, its understanding is essential for the effective treatment or prevention of the development of 4H Leukodystrophy in patients. However, there is no cure for 4H syndrome so far. Health care professionals target symptoms of the disease to slow down its progress. This is why the treatment of 4H Leukodystrophy is supportive. Contemporary methods of treatment allow helping patients to cope with the disease for a while, but the average longevity of patients after the diagnosis of the disease varies from 5-8 years in children to about a decades or a little bit more in adults (Bonkowski, et al., 2012). The lack of understanding of causes and mechanisms of the development of the disease makes 4H Leukodystrophy incurable at the moment.
New, more effective strategies of the treatment of4H Leukodystrophy are essential because existing strategies and methods of treatment do not allow the complete recovery of patients. Instead, patients’ health steadily declines. Health care professionals can only postpone the death of patients from 4H Leukodystrophy by addressing symptoms and supporting the physical health of patients as long as possible. This is why the early diagnosis is very important because the early diagnosis allows suppressing the development of the disease and slows down its further development. On the contrary, if the disease remains untreated or undiagnosed and, therefore, untreated, the risk of the early death of patients increases substantially. 4H Leukodystrophy Essay Paper
Therefore, the effective treatment and the recovery of patients with 4H Leukodystrophy is rather the matter of the future than of the present moment. Before treatment strategies can be developed, the genetic basis of the disorder must be elucidated. Genetic family studies are necessary in as many families as possible (Duchange, et al., 2014). This is an essential condition of the development of the reliable and effective treatment of the disease that leads to the complete recovery of patients. However, the most important is the prevention of the disease. In this regard, the revelation of the genetic basis of the disorder will help to develop adequate response and prevention strategies that will minimize the risk of the development of the disease.
Nevertheless, health care professionals still conduct the treatment of 4H Leukodystrophy to support patients and to focus on symptoms they manifest. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, careful attention to neurologic complications over time (Pouwells, et al., 2014). As the disease may have different manifestations depending on the patient, health care professionals apply the treatment that addresses the specific type of 4H Leukodystrophy and specific symptoms of the disease that the particular patient suffers from.
Thus, the development of 4H Leukodystrophy is driven by genetic factors, which though are unclear so far that prevents patients from the complete recovery and makes the disease lethal for patients. The early diagnosis of the disease becomes particularly important because it helps to start the treatment early and to suppress the development of the disease, but patients live from five to over ten years after being diagnosed with 4H Leukodystrophy. The effective treatment of the disease is the matter of the future because the root cause of the disease and the genetic basis of the disease are unclear so far, while their revelation can help to prevent or cure the disease successfully.4H Leukodystrophy Essay Paper