Charcot-Marie Tooth Syndrome Definition and Term Paper

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In the third trimester of pregnancy, caution must be taken concerning congestive heart failure, hypertension and decreased renal and hepatic function, interstitial nephritis, hyperkalemia, hyponatremia and renal papillary necrosis, anticoagulation abnormalities, leucopenia, granulocytopenia and thrombocytopenia. The use of Celecoxib is aimed primarily at suppressing pain and inflammatory stimuli, but it may contribute to NSAID gastrointestinal toxicity. The lowest possible dose of celecoxib should be prescribed and taken. On the whole, NSAIDs can mask the usual signs of infection, therefore, caution must be taken in the presence of existing controlled infection. The physician should investigate symptoms and signs, which suggest liver dysfunction or abnormal liver lab results.

On September 30, 2004, Merck and Company voluntarily withdrew rofecoxib from the American and world markets because of its association with an increase in cardiovascular incidence (Keldaya 2005). A major Food and Drug Administration study linked the medication to a three-fold rise in the risk of sudden cardiac death or heart attack among patients taking higher doses of rofecoxib compared to those not taking it. The study showed that even patients taking standard dose had he greater risk of heart attack or sudden cardiac death than those taking any dose of celecoxib. This study was conducted on account of the medical records of 1.4 million people who were insured by the Kaiser Permanente in Oakland, California between 1999 and 2001. The study was observational, rather than randomized and controlled (Keldaya).

On April 7, 2005, Pfizer, Inc. also voluntarily withdrew its valdecoxib product name, Bextra, from the American and world markets, pending talks with the FDA on the link of the drug to potentially life-threatening risks, including myocardial infarction, stroke and serious skin reactions (Keldaya 2005). The drug offers a very fast start of pain relief and prolonged efficacy. New information was given on the cardiovascular risks to more than 1,500 patients treated with valdecoxib, who showed increased cardiovascular risks as compared with those who were given placebos. These observed cardiovascular risks included myocardial infarction, cerebrovascular accident, deep vein thrombosis and pulmonary embolism. Pfizer, Inc. submitted its own report on November 5, 2004, confirming the risk of the intravenous form of valdecoxib but that the oral form was associated with lower risk.

CMT is also managed with the use of anti-depressants, a complex group of drugs, which assert central and peripheral anti-cholinergic and sedative effects (Keldaya 2005). Tricyclic anti-depressants have substantial effect on pain transmission and block the ctive re-uptake of norepinephrine and serotonin. Analgesics, on the other hand, are the most commonly prescribed for certain chronic and neuropathic pain. They inhibit membrane pump that is responsible for the uptake of norepinephrine and serotonin in adrenergic and serotonergic neuron. Analgesics are contraindicated to hypersensitivity to these drugs and for patients who have taken MAO inhibitors in the previous 14 days or who have a history of seizures, cardiac arrhythmias, glaucoma or urinary retention. Nortriptyline is another analgesic that has demonstrated effectiveness in treating chronic pain by increasing the synaptic concentration of neurotransmitters in the central nervous system. Desipramine has a similar action in creasing synaptic concentration of norepinephrine at the central nervous system by inhibiting the re-uptake by pre-synaptic neuronal membrane.

Other drugs and medications prescribed for the management of CMT are doxepin with histamine and acetylcholine function in the treatment of depression because of chronic and neuropathic pain. It is, however, contraindicated to sensitiivity, urinary retention, acute recovery phase following myocardial infarction and glaucoma.

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It decreases anti-hypertensive effects but increases the effects of sympathomimetics and benzodiazepines and those of desipramine with phenytoin, carbamazepine and barbiturates. Anti-convulsants are also used to manage pain and sedate neuropathic pain. One example is gabapentin, which is a membrane stabilizer (Keldaya).

No inpatient care is generally required for CMT, except in surgical cases (Keldaya 2005). Further outpatient care includes check-ups for deterioration in function and contractures, deterrence and prevention. Genetic counseling may be useful in providing families with information on the nature, inheritance patterns and the genetic implications of the disorder. Genetic counseling gives parents a chance to make informed decisions on reproduction.

Failure to make accurate and proper diagnosis of CMT and its genetic patterns has serious medico-legal consequences (Keldaya 2005). This need can be met by providing genetic counseling to parents and avoid these medico-legal consequences.

Diagnosis of CMT requires a series of tests, including an evaluation of muscle atrophy and nerve condition, examination of muscle and nerve sensory responses, and electromyograpic studies as well as a thorough review of the patient's family history as regards CMT (Keldaya 2005). A DNA blood test may also be used in detecting or ruling out the 1A and 1X CMT types (Keldaya 2005). All routine laboratory tests must be conducted on all CMT patients. Other procedures should include special genetic tests, nerve biopsy in cases of dilemma, electromyography or nerve conduction study.

The Avicena Group (2005) has explored the usefulness of a new drug in the treatment of CMT. A pilot study was conducted by the group on the drug, which aims at increasing muscle size and the level of total muscle creatine concentration. The compound under study addresses increased muscle strength and increased aerobic capacity and the overall reduction of the severity of symptoms (Avicena)

Prognosis - the progression of CMT depends on the subtype, but most CMT patients live a normal life expectancy and the disease progresses slowly with little disability (Avicena 2005). Those who develop the most severe forms of CMT, such as Dejerine-Sotta, are afflicted with the disorder as early as two years old and die young (PatientPlus 2005). Prognosis also depends on the clinical severity. In general, CMT is a slowly progressive neuropathy, which eventually leads to disability secondary to distal muscle weakness and deformities. it, however, does not shorten one's life span (Keldaya 2005).

CMT is marked by progressive nerve degeneration and muscle atrophy (Avicena 2005). As the nerves of the feet, legs, hands and arms degenerate, the CMT patient slowly loses normal use of his or her extremities. As mentioned earlier, among the earliest signs is a high arched foot. As the disorder progresses, more structural foot deformities and frequent ankle sprains occur as consequent injuries. This condition of progressive muscle atrophy leads to problems with walking, running and maintaining balance. In rare conditions, muscle weakness extends to upper legs. This progressive muscle atrophy also affects hand function, so that fine acts, like writing and holding utensils, become hard. In the latter stages, the degeneration of nerve function leads to the loss of senses in the hands and feet. The patient soon loses the ability to distinguish between hot and cold, along with the tactile sense. In the majority of cases, CMT symptoms reach full expression by the age of 30.....

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