Charcot-Marie-Tooth Syndrome Essay

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Charcot-Marie-Tooth (CMT) syndrome is a genetic disease that results in muscular atrophy. CMT is named so after the three doctors that first described the disease in full detail (Jean-Martin Charcot, Pierre Marie, and Howard Tooth), but is also know as hereditary motor and sensory neuropathy. The disease causes a depletion of myelin protein that insolates nerve cells. Charcot-Marie-Tooth syndrome also creates dysfunctional axons terminals. This demyelination and improper axon functionality creates slow nerve impulse which result in an onset of muscular deprivation due to the nerve impulses not stimulating proper muscle growth. Muscular atrophy is predominantly located in the muscles of the legs and feet, but can take place in the forearms and hands. CMT is not lethal, but symptoms caused by muscle loss can vary among individuals and can include intolerance to cold, bowing inward of the knees, difficulty walking, difficulty in finger movement or grasping, loss of balance, and foot deformities including club foot, flat foot, and high arching of the foot. In more severe cases, patients with CMT can have problems with other regions of the body apart from the extremities. Such cases may consist of trouble breathing, hearing and vision difficulties or impairment, scoliosis, hip deformities, tremors, and trouble speaking. Pregnancy, some medications, and alcohol seem to intensify conditions caused by CMT. Even though symptoms are most commonly observed among children and young adults, CMT can affect people of any age and ethnicity around the world. Charcot-Marie-Tooth syndrome is classified into varies categories that are all categorized by the mode of inheritance and their effects, but classification can be difficult since symptoms of the disease can be interchangeable. CMT type 1 is the most common type of CMT in which the disease is generally inherited by

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