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Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease
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Signs and symptoms
Charcot Marie Tooth disease encompasses a group of inherited disorders that affect motor and sensory peripheral nerves. It is a type of neuropathy characterized by damage to myelin sheaths and nerve axon structure that results in impaired ability of the peripheral nervous system to send signals or relay sensory information. CMT typically presents with distal predominance of limb-muscle wasting, weakness, and sensory loss , . Symptoms start in the feet, which commonly have high arches, hammer toes, intrinsic muscle weakness, and wasting. The disease then begins to affect the legs and the lower thighs, which results in distal atrophy of the lower limbs. The hands become affected, followed by the forearms. Sensory loss also
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
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 range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
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 (...
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
(Marieb, 2016). Myelin is the protective coat surrounding and insulating the nerve fibers of CNS. Myelin is fatty tissue substance that if attacked by immune cells causing a short-circuits in the current so that the successive gaps are excited more and more slowly, and eventually impulse conduction ceases which resulted in various forms of symptoms (Marieb, 2016). The degradation could either be “by inflammation, stroke, immune disorder, metabolic disorders, or nutritional deficiencies” (Slomski, 2005). The target that immune cells are sensitized to attack remains
... damaged neurons. (Mayo clinic, 2014). This is called neuroplasticity, the ability for the nerves to compensate for damage caused by some outside force. Because of neuroplasticity physical training works to cure some of the paralysis left by the virus and allows us to walk again after the legs or another appendage is deformed or damaged.
Multiple sclerosis is a disease that affects the central nervous system, attacking the brain and the spinal cord. MS attacks myelin, the fatty material that acts as a protective coating to the body's nerves. (1) The inflammation of the nerve tissues covering the nerves can affect any part of the nervous system and varies from person to person. (7) Normal nerve function decreases with the onset of MS because MS causes scars to form on the covering of the nerve. Multiple Sclerosis acquires this term because it literally means scars. (1,7) The covering of the nerve with myelin is very important so that the nerve can transmit signals rapidly and efficiently. Demylelination enables the nerve to carry impulses properly by either blocking or slowing transmission and this is why the various symptoms of MS occur. (1)
When a person begins to suffer from Guillain- Barre Syndrome their myelin sheath of their nervous system is being attacked and destroyed by the immune system (NINDS, 2011). The myelin sheath begins to lose its ability to transmit signals rapidly and affectively. Since signals are not getting transmitted to the brain fast enough, a person begins to notice fewer sensory responses from the rest of the body (NINDS, 2011). A person wouldn’t be able to tell right away or at all if an item they are touching is hot, cold, or causing pain. There also wouldn’t be good signal transmission from the brain to the rest of the body (NINDS, 2011). There would be signs of the muscles being unable to respond to the weakened or distraught signals they were receiving. Since the myelin sheath is responsible for transmitting the signals from a long distance, the upper and lower extremities would be the first to show signs of muscle dysfunction.
The most common type is Peripheral Neuropathy. It is also referred to as distal symmetric neuropathy or sensorimotor neuropathy. In this type, the legs, feet, toes, arms, and hands experience pain and loss of sensation. Typically, the lower extremities are involved before the upper extremities and a loss of reflexes is common. It is with this type of neuropathy that ulcers, wounds, infections, and in severe cases, amputations are most common (Dyck, Feldmen, & Vinick).
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
Multiple sclerosis (MS) is an acquired demyelinating disease of the central nervous system (CNS) that typically is diagnosed in the second or third decade of life. Normally, nerves are enclosed in myelin sheaths that help facilitate transmission of nerve impulses within the CNS and the peripheral nervous system throughout the body. In patients with MS, the myelin sheath is damaged and eventually degenerates, causing patches of scar tissue called plaques or lesions to occur anywhere randomly on the myelin sheath (Ruto, 2013). This results in impaired nerve conductivity, which interferes with message transmission between the brain and the other parts of the body. As a result, impulse transmission is altered, distorted, short-circuited, or completely absent. This interference in impulse transmission creates muscle weakness, muscle imbalance, and possibly muscle spasms with partial or complete paralysis. Multiple sclerosis also can result in visual impairment and alteration of cognitive abilities, as well as pain, numbness, or tingling sensations (Ruto, 2013).
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.
If you have diabetes, you probably know that uncontrolled blood sugar levels can negatively affect various organs in your body, including the heart, kidneys, nerves and eyes; however, did you know that inconsistent blood glucose levels can also lead to periodontal disease? Periodontal disease often leads to dental pain which can make chewing difficult. There is also the possibility of tooth loss.