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Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease
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Charcot Marie Tooth Disease is a neurological disorder named after the three physicians who first described it in 1886, Jean Martin Charcot and Pierre Marie from France and Howard Henry Tooth from the United Kingdom. Charcot Marie Tooth Disease is a group of hereditary disorders that damage the nerves in the arms and legs. When the parts of the nerves, the axons and the myelin, become damaged the messages that run along the nerves move more slowly or have a weak signal. Charcot Marie Tooth Disease is a disease of the peripheral nerves that controls the muscles. It is found in men and women, and slowly increases causing loss of normal use of the lower legs, feet, arms, and hands. Charcot Marie Tooth Disease is also known as hereditary sensory
Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypermobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS, the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well.
The medical dictionary online defines flaccid dysarthria as weakness or paralysis of the articulatory muscles due to LMN disorders, causing hypernasality, imprecise consonants, breathy voice, raspy voice and monotony of pitch. In the most severe forms of flaccid dysarthria, it is characterized by the shriveling and flaccidity of the tongue and laxness & tremulousness of the lips. This is seen in advanced cases of lesions that are located in the motor nucleus of the lower pons or medulla oblongata.
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
The article Poor Teeth was written by Sarah Smarsh with the goal in mind being to shed light on the issue between upper and lower class society in a particularly concrete way. Teeth and dental health are an easy thing for people to imagine in their head because everyone has a set whether they’re white and shiny or black and rotted. This makes it easy to draw a comparison between people that care for their teeth and those who don’t. However, access to dental knowledge and services which the lower class often times doesn’t have is very different between the poor and the rich. While the rich stroll through life showing off their perfect glossy white rows of teeth, there are less privileged people out there with barren mouths whose weak pale gums
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
problems within the specific ion channels known to cause the disease. The goal of the
Twenty years of research has firmly established that periodontal disease and cardiovascular disease are associated. However the exact relationship between the two is still controversial. In order to understand the relationship between periodontal disease and cardiovascular disease people need to understand the physiology, and microbiology behind both of the diseases.
A virtuoso of suspense and horror, Edgar Allan Poe is known for his Gothic writing style. His style is created through his use of punctuation, sentence structure, word choice, tone, and figurative language. Punctuation-wise; dashes, exclamation marks, semicolons, and commas are a favorite of Poe. His sentences vary greatly; their structures are influenced by punctuation. Much of his word choice set the tone of his works. Figurative language colors his writings with description. Such is observed in the similarities between two of his most well-known short stories, “The Cask of Amontillado” and “The Tell-Tale Heart”
Neurofibromatosis (NF) is a genetic disorder of the nervous system. This can cause tumors to form on the nerves anywhere in the body at any time. Neurofibromatosis affects all races, all ethnic groups and both sexes equally. NF if one of the most common genetic disorders in the United States. NF has three genetically distinct forms are NF1, NF2 and Schwannomatosis.
Maddy in the book tells us what the definition to her disease is “ It can lead to susceptibility to most serious of the primary Immunodeficiencies. Fortunately, effective treatment, such as stem cells transplantation, exists and can cure the
Ataxia - telangiectasia is a rare inherited disorder that affects many parts of your body including the nervous system , immune system and other body systems. The people that have this disorder are also at a higher risk of getting cancer. This disorder affects the nervous system, the immune system
Channelopathy refers to the diseases that are caused by a disturbance in the function of an ion channel. This greatly affects the neuron as the neuron tends to contain many ions channels which make it possible to produce an action potential. A disease that is known as a channelopathy is hyperkalemic periodic paralysis that is also known as HPP this is caused by an inherited autosomal dominant mutation in the DNA sequence. The gene that is responsible for this function is SCN4A. So just having the gene will cause the mutation to be expressed. This disease affects the sodium voltage gated ion channels ability causing inactivate problems. This causes their to be a higher concentration of potassium in the blood disrupting the setpoints to maintain
Imagine a normal day in your life, then collapsing to the ground and rushed to the hospital. Lee Mitchell had suffered from a severe syndrome named Cauda Equina. This occurs when nerves in the human body are compressed inward towards the spinal column. Normally when this takes place it is noticed early through symptoms and can be easily and quickly treated. In her case it was sudden and there were no early symptoms.
The syndrome was named after Georges Guillain and Jean Alexandre Barre in 1916, Guillain-Barre Syndrome is an autoimmune disease, activated by an infection, or surgery that causes the immune system to attack the lower motor neurons in the peripheral nervous system, but will gradually work its way distally to more proximal. “This syndrome can affect people in any age group and occurs in 1 in 100,000 of the population.” (Lescher, 2011).
Important to the manifestation of CM is also the primary condition of the patient, such as cognitive diseases that cause narrowing of the spinal canal. In those cases there is a greater risk of developing symptomatic CM at early stage of life[8].