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שלום לכולן/ם אני חברה של סיאמית המקסימה, והגעתי לפה בהמלצתה. כבר כמה זמן שאני משתתפת פסיבית בפורום ומאוד נהנת מההודעות התומכות שיש פה. אני בטח אהיה כאן על תקן של "מקרה מיוחד" כי אין לי טרשת, אבל יש לי טרפצת מסוג אחר, הכול על טהרת המיאלין כך שזה מאותה משפחה. קוראים לזה charcot-marie-tooth או בקיצור cmt וזה גורם, כמו בטרשת לחוסר במיאלין ולכל מה שמתלווה לחוסר במיאלין. במצא את ההבדלים, יש הבדל עיקרי וזה שמה שיש לי זה גנטי (אצלי זה מאמא) בעוד שטרשת ניגרמת עקב המערכת החיסונית. עוד כמה פרטים על עצמי - מתקרבת לשלושים, נולדה לי בת לפני כמעט 5 חודשים תינוקת (ואכנה אכנה כאן - תלי - תינוקת שלי), אנחנו כבר שנה בארה"ב בעקבות העבודה של הבעל. נראה לי שסיפרתי די הרבה על עצמי בשביל הפעם הראשונה, והאמת שמאוד קשה לי כל העניין של החשיפה. למי שיש כוח וכוס קפה, כי זה ארוך מאוד, מצרפת פה הסבר על cmt מ-Charcot-Marie-Tooth Association: Charcot-Marie-Tooth, or CMT, is the most common inherited neurological disorder, affecting approximately 150,000 Americans. CMT is found world-wide in all races and ethnic groups. It was discovered in 1886 by three physicians, Jean-Marie-Charcot, Pierre Marie, and Howard Henry Tooth. CMT patients slowly lose normal use of their feet/legs and hands/arms as nerves to the extremities degenerate. The muscles in the extremities become weakened because of the loss of stimulation by the affected nerves. Additionally, there is a loss of sensory nerve function. Unlike muscular dystrophy in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles. What are its characteristics? A high arched foot is one of the first signs of this disorder. As the disease progresses, structural foot deformities take place. The patient develops a pes cavus foot with hammer toes. Foot drop and ankle sprains are frequent manifestations. The progressive muscle wasting leads to problems with walking, running, and balance. To avoid tripping, patients with foot drop raise their knees unusually high resulting in high steppage gait. In some patients, muscle weakness may also occur in the upper legs. Flat foot is seen as well in patients with CMT. Hand function also becomes affected because of progressive muscle atrophy, making fine manipulatory acts, like writing, difficult. The loss of nerve function in the extremities also leads to sensory loss. The ability to distinguish hot and cold is diminished as well as the sense of touch. CMT also can be inherited in a recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. A child may or may not be more severely disabled than his/her parent. How is it inherited? CMT is generally inherited in an autosomal dominant pattern. This means that if one parent has the disease (either the father or the mother) there is a 50% chance of passing it on to each child. CMT can also be inherited in recessive or an X-linked pattern. To determine the pattern of inheritance, each CMT patient should consult a genetic counselor, neurologist or other medical authority familiar with the disease. How is it diagnosed? Careful diagnosis of CMT involves clinical evaluation of muscle atrophy, testing of muscle and sensory responses, nerve condition and electromyographic (EMG) studies, as well as a thorough review of the patient´s history. CMT types 1A and 1X can now be diagnosed by a DNA blood test. Some people who carry the CMT genetic trait show no apparent physical symptoms. The variation in degree of physical disability, together with a lack of physician awareness of CMT, has often led to misdiagnosis. Today, the Charcot-Marie-Tooth Association is educating both medical specialists and patients about CMT. How is it treated? At present there is no cure for CMT, although physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. Custom shoes or shoe inserts (foot orthoses) will help to improve gait. Leg braces will prevent ankle sprains, improve gait, and reduce the amount of energy needed to walk. Corrective orthopedic foot surgery is available to help maintain mobility when medically indicated. Splinting, specific exercises, adaptive devices and surgery can help maintain hand function.
שלום לכולן/ם אני חברה של סיאמית המקסימה, והגעתי לפה בהמלצתה. כבר כמה זמן שאני משתתפת פסיבית בפורום ומאוד נהנת מההודעות התומכות שיש פה. אני בטח אהיה כאן על תקן של "מקרה מיוחד" כי אין לי טרשת, אבל יש לי טרפצת מסוג אחר, הכול על טהרת המיאלין כך שזה מאותה משפחה. קוראים לזה charcot-marie-tooth או בקיצור cmt וזה גורם, כמו בטרשת לחוסר במיאלין ולכל מה שמתלווה לחוסר במיאלין. במצא את ההבדלים, יש הבדל עיקרי וזה שמה שיש לי זה גנטי (אצלי זה מאמא) בעוד שטרשת ניגרמת עקב המערכת החיסונית. עוד כמה פרטים על עצמי - מתקרבת לשלושים, נולדה לי בת לפני כמעט 5 חודשים תינוקת (ואכנה אכנה כאן - תלי - תינוקת שלי), אנחנו כבר שנה בארה"ב בעקבות העבודה של הבעל. נראה לי שסיפרתי די הרבה על עצמי בשביל הפעם הראשונה, והאמת שמאוד קשה לי כל העניין של החשיפה. למי שיש כוח וכוס קפה, כי זה ארוך מאוד, מצרפת פה הסבר על cmt מ-Charcot-Marie-Tooth Association: Charcot-Marie-Tooth, or CMT, is the most common inherited neurological disorder, affecting approximately 150,000 Americans. CMT is found world-wide in all races and ethnic groups. It was discovered in 1886 by three physicians, Jean-Marie-Charcot, Pierre Marie, and Howard Henry Tooth. CMT patients slowly lose normal use of their feet/legs and hands/arms as nerves to the extremities degenerate. The muscles in the extremities become weakened because of the loss of stimulation by the affected nerves. Additionally, there is a loss of sensory nerve function. Unlike muscular dystrophy in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles. What are its characteristics? A high arched foot is one of the first signs of this disorder. As the disease progresses, structural foot deformities take place. The patient develops a pes cavus foot with hammer toes. Foot drop and ankle sprains are frequent manifestations. The progressive muscle wasting leads to problems with walking, running, and balance. To avoid tripping, patients with foot drop raise their knees unusually high resulting in high steppage gait. In some patients, muscle weakness may also occur in the upper legs. Flat foot is seen as well in patients with CMT. Hand function also becomes affected because of progressive muscle atrophy, making fine manipulatory acts, like writing, difficult. The loss of nerve function in the extremities also leads to sensory loss. The ability to distinguish hot and cold is diminished as well as the sense of touch. CMT also can be inherited in a recessive or an X-linked pattern. The degree of severity can vary greatly from patient to patient, even within the same family. A child may or may not be more severely disabled than his/her parent. How is it inherited? CMT is generally inherited in an autosomal dominant pattern. This means that if one parent has the disease (either the father or the mother) there is a 50% chance of passing it on to each child. CMT can also be inherited in recessive or an X-linked pattern. To determine the pattern of inheritance, each CMT patient should consult a genetic counselor, neurologist or other medical authority familiar with the disease. How is it diagnosed? Careful diagnosis of CMT involves clinical evaluation of muscle atrophy, testing of muscle and sensory responses, nerve condition and electromyographic (EMG) studies, as well as a thorough review of the patient´s history. CMT types 1A and 1X can now be diagnosed by a DNA blood test. Some people who carry the CMT genetic trait show no apparent physical symptoms. The variation in degree of physical disability, together with a lack of physician awareness of CMT, has often led to misdiagnosis. Today, the Charcot-Marie-Tooth Association is educating both medical specialists and patients about CMT. How is it treated? At present there is no cure for CMT, although physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. Custom shoes or shoe inserts (foot orthoses) will help to improve gait. Leg braces will prevent ankle sprains, improve gait, and reduce the amount of energy needed to walk. Corrective orthopedic foot surgery is available to help maintain mobility when medically indicated. Splinting, specific exercises, adaptive devices and surgery can help maintain hand function.
