Rare Neurological Diseases: Half of All Rare Diseases - Essay Sample

Introduction

Rare neurological diseases refer to the heterogeneous group of disorders that mostly affect both the central and nervous systems and muscles. Ideally, these conditions provide a representation of nearly half of all rare diseases. For many years, neurologists and neuroscientists have focused their classical interests primarily on common diseases such as dementia, headache, epilepsy, and stroke. Thus, they have mostly avoided the major-follow up of the rare neurological disorders that have posed huge impacts on the global healthcare systems, including the United States (Manole, 2017). The current report describes the research proposal aimed at determining the underlying pathophysiological processes involved in the identified rare neurological conditions using different experimental approaches and techniques. This study contributed by the fact that in the last nine months, there has been a tremendous increase in the number of patients being referred by their General Practitioners to the National Hospital for Neurology and Neurosurgery (NHNN) in Queen Square, London. These patients presented similar symptoms such as headache, apraxia, dyslalia, dyssynergia, and visual disturbance. The need for this research is further facilitated by the fact that the presented symptoms, in this case, are not suggestive of any of the well-established neurodegenerative diseases. Additionally, the MRI and other neuroimaging diagnostic approaches confirmed the absence of tumors in the brain or spinal cord and the absence of MS lesions (Vandeborne et al. 2019, p. 11). The inability of these symptoms to match any rare diseases in the databases of the Office of Rare Disease Research thus offered a justification for an investigative procedure aimed at determining this rare and identified disease of the central nervous system.

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Hypothesis

Radiological experiments will help reveal the core principles relevant to multiple neurotropic pathogens and thereby inform the broader field on viral pathogenesis.

The use of electroencephalogram technique will help record the electrical pattern in the brain and thus diagnose the conditions related to the rare and unidentified diseases.

Radiological Experiments

As part of this research, the radiology of the brain is anticipated to be critical in the diagnosis of the abnormality of the long bones and spines, which are mainly observed in conditions where marrow and matrix are primarily involved. These studies have been critical in the diagnosis of conditions such as Gaucher's disease, whereby the mucolipidoses, homocystinuria, and gangliosidoses were involved. The radiology of the brain will further help provide the skull's information, which is always informative under these circumstances. The research will focus on assessing the thickening and increase in the diploic pattern with the loss of the digital markings, which are usually observed where the cortical atrophy is present. Although these signs are seen after a single cerebral insult experienced in childhood, it often stops growing. A critical shrinkage thus occurs (as in reaction to pertussis antigen). These signs are mostly seen in the amaurotic family idiocies, particularly in some cases of longer duration, and represent in them progressive cortical atrophy. Additionally, the researcher will assess progressive calcification.

In most cases, the calcification observed on the X-ray occurs in the gyri and specifically within the cortex of the brain. It is expected that the experiments in this case through the use of radiological diagnostics will help show localised or generalised analysis of different parts of the brain, such as the Cerebellar or Cortical atrophy. Air experiments will further play a critical role in delineating the aqueduct stenosis, posterior fossa, or brainstem tumors, or aneurysm of the great vein of Galen, conditions. Based on their progressive nature, they may imitate the heredodegenerative syndromes. For the procedure to be effective, a well-equipped radiology lab will be needed. Based on the fact that the experiments will be conducted in series to determine and identify the rare diseases involved, it is anticipated that the whole procedure will take 6 months to research, analyse and make conclusions on the results. The researchers will observe and analyse the abnormal patterns that will indicate any rare signs and abnormalities present in the brain.

Electroencephalogram (EEG) Experimental Study

As part of this research, the Electroencephalogram (EEG) will be critical in determining the pathophysiology of the involved disease (Manole, 2017). The EEG will be used to monitor the brain's electrical activity through the skull. Ideally, it will broadly be crucial in helping in the diagnosis of various signs associated with seizures disorders as well as the metabolic, infectious, and inflammatory disorders that are likely to affect the activities of the brain. The EEGs are mainly used to evaluate the central nervous system's diseases, especially when an individual has fully anesthetized or loses consciousness.

The EEG has been critical in diagnosing various progressive neurological disorders such as subacute sclerosing panencephalitis and late infantile (Manole, 2017). Therefore, the use of this method will provide tremendous non-specific evidence of different evolving conditions. The EEG may not be misleading, mainly when other signs such seizure controls are the variables. Notably, the unsustained fluctuations within the dysrhythmic pattern. In this sense, therefore, the research will utilize a significant aspect of the computerised averaging technique that will be used to measure the cortically evoked responses within the brain. This will also involve the studies of the visually evoked responses within the occipital cortex, thereby indicating rare and unidentified degenerative diseases that especially affect the optic radiations within the brain.

For a successful experimental procedure, EEG will require a laboratory that is well-equipped with the necessary resources such as the EEG material, and the brain. The doctor’s office or hospital can also be used for the same procedure. An amplifier and EEG recording machine will thus be used to assess the brain structure to track and records brain wave patterns. It is expected that the use of EEG will help find problems related to electrical activity of the brain. The entire procedure, analysis and interpretation of the results will take a period of 6 months. Thus, the normal electrical activities within the brain will make a recognizable pattern through an EEG. The researchers will thus observe the abnormal patterns that will indicate any rare signs and abnormalities.

Reference List

Manole, A.A., 2017. Functional genetics of rare neurological disorders (Doctoral dissertation, UCL (University College London).

Vandeborne, L., van Overbeeke, E., Dooms, M., De Beleyr, B., & Huys, I. (2019). Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet journal of rare diseases, 14(1), 1-11.