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Research paper for hydrocephalus
Hydrocephalis
Research paper for hydrocephalus
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Dandy Walker Syndrome is an abnormal cerebellum malformation that patients with will usually develop motor skill impairments and psychical setbacks. It is also the most common cerebellum defect, and effect a growing amount of patients becoming more frequent. A still highly researched subject, Dandy Walker Syndrome is a condition that derives from either ones genetic makeup, or mutated version of their genetic makeup. The disorder includes a wide range of various signs and symptoms, however, there are few known successful treatments to help the condition. Research of the disorder show that there is no clear inheritance ties to Dandy Walker Syndrome, however some family members will inherit the gene to cause the disorder. Very rarely does the syndrome spiral from family genetics, but rather a gene mutation or an copied chromosome. (Dandy-Walker Malformation) The said malformation of the cerebellum is a growth of the forth ventricle that is located on the spinal cord. On top of that, the vermis, a vital portion of the cerebellum, may be completely absent. Fortunately, subjects whom have Dandy-Walker Syndrome are not suffering from a catastrophic illness. A …show more content…
These further conditions are thought by researchers to have been generated complications from the impaired cerebellum of the brain. (Dandy-Walker Malformation Presenting with Psychological Manifestations) Another complication due to Dandy Walker Syndrome is hydrocephalus; a build up of cerebrospinal fluid in the brain’s ventricles. (Dandy-Walker Malformation) Hydrocephalus also causes additional swelling to the head, also a double sign for hydrocephalus and Dandy Walker Syndrome both. Patients that have both Dandy Walker Syndrome and hydrocephalus have a more common combination of complications and present more symptoms of the overall
Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen).
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Histological examination shows severe degeneration of Purkinje cells, reduction in the number of cells in the molecular and granular layers of the cerebellar cortex, severe loss of the number of cells in the pontine nuclei and olives, and demyelination of the middle cerebellar peduncle. The cerebellar nuclei are well preserved. The tegmentum of the pons, the corticospinal tracts, and the restiform body are also usually unaffected. In clinical cases involving extrapyramidal symptoms, degenerative changes in the striatum, espec...
Flaccid dysarthria results from damage to the lower motor neurons (LMN) or the peripheral nervous system (Hageman, 1997). The characteristics of flaccid dysarthria generally reflect damage to cranial nerves with motor speech functions (e.g., cranial nerves IX, X, XI and XII) (Seikel, King & Drumright, 2010). Lower motor neurons connect the central nervous system to the muscle fibers; from the brainstem to the cranial nerves with motor function, or from the anterior horns of grey matter to the spinal nerves (Murdoch, 1998). If there are lesions to spinal nerves and the cranial nerves with motor speech functions, it is indicative of a lower motor neuron lesion and flaccid dysarthria. Damage to lower motor neurons that supply the speech muscles is also known as bulbar palsy (Pena-Brooks & Hedge, 2007). Potential etiologies of flaccid dysarthria include spinal cord injury, cerebrovascular accidents, tumors or traumatic brain injury (Pena-Brooks & Hedge, 2007). Possible congenital etiologies of flaccid dysarthria include Moebius syndrome and cerebral palsy. Flaccid dysarthria can also arise from infections such as polio, herpes zoster, and secondary infections to AIDS (Pena-Brooks & Hedge, 2007). Additionally, demyelinating diseases such as Guilian-Barre syndrome and myotonic muscular dystrophy can also lead to flaccid dysarthria (Pena-Brookes & Hedge, 2007). The lower motor neuron lesion results in loss of voluntary muscle control, and an inability to maintain muscle tone. Fasciculations, or twitching movements, may occur if the cell body is involved in the lesion (Seikel et. al., 2010). The primary speech characteristics of flaccid dysarthria include imprecise consonant production, hypernasal resonance, breathiness, and harsh voice (...
The Complexity of Arnold-Chiari Malformation. To the medical doctor, Arnold-Chiari Malformation, which may have a genetic link, is characterized by a small or misshapen posterior fossa (the depression in the back of the skull), a reduction in cerebrospinal fluid pathways and a protrusion of the cerebellar tonsils through the bottom of the skull (foramen magnum) into the spinal canal resulting in a multitude of sensory-motor problems and even some autonomous malfunctions (1). These symptoms can come in a variety of forms, which often makes a clinical diagnosis difficult. To the patient, this disorder can present not only physical difficulties but also mental distress.
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
Angelman syndrome (AS), first described by Dr. Harry Angelman in 1965 is a neuro-genetic disorder that arises in one of 15,000 live births in the nation. This syndrome most commonly presents developmental delays, minimal speech, and the inability to walk; these are very common symptoms of many other more frequently diagnosed disorders. It is often misdiagnosed as cerebral palsy or autism due to the similar characteristics it possesses and its lack of identification. However, the characteristic possessed by the individual who has Angelman is the expression of happiness. This kind of expression is associated with general exuberance and profuse smiling and laughing, as well as an elated personality. Due to the name and the joyful demeanor, carriers of this syndrome are called Angels.
Many people have heard the term cerebral palsy and may have a personal perception about the appearance and effects of this
Angelman syndrome has symptoms that can be easily mistaken for cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome, they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today, which can also lead to late diagnoses as well.
In the 1960’s, an Austrian pediatrician, Dr. Andres Rett, recognized a few of his female patients with similar indications of having some type of neurologic disorder but did not fit the cerebral palsy classification (Zoghbi, 2002). Without the knowledge of earlier research, a Swedish physician, Bengt Hagberg, began to openly speak about his observations similarly to Dr. Andres Rett records (Zoghbi, 2002). Bengt Hagberg observed numerous of female patients with this unknown syndrome and was curious in their wringing hand movement that no textbook had information on. In June 1981 Dr. Neil Gordon hosted a board meeting of the European Federations of Child Neurology Societies in Manchester and Bengt Hagberg had the opportunity to share his studies there. The discussion group had other pediatric neurologists that had seen the same behaviors but they all were unable to categorize it into its own identity. As years past, this syndrome has increased and neurologist began to evaluate this syndrome t...
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.