Mitch Dreyer
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Charcot Marie Tooth Type 1A.
Mitch Dreyer
Main Symptoms – Numbness in the extremities. – Weakening of the hands and feet. – High arched feet and hammer toes. Effects of CMT1A – Muscle wasting away. – Loss of hand movements. – Loss of sensory feelings. – Spinal curvature and/or scoliosis. – Rarely causes hip dysplasia. Genetics th – It is found on the 17 chromosome. – It is cause by a duplication of the protein PMP22 because of an un-balanced translocation of 17p11.2 from the 17th chromosome to the X chromosome. – CMT1A is also cause by a point mutation. Passing this disease – It is inherited by peripheral neuropathy. – It is found in 1 in 2,500 people. – The chance of passing it down is 50%, but that percent goes up to 75% when both parents have this disease. – 50% of infected people got this disease by the duplication of PMP22.
Mitch Dreyer
Main Symptoms – Numbness in the extremities. – Weakening of the hands and feet. – High arched feet and hammer toes. Effects of CMT1A – Muscle wasting away. – Loss of hand movements. – Loss of sensory feelings. – Spinal curvature and/or scoliosis. – Rarely causes hip dysplasia. Genetics th – It is found on the 17 chromosome. – It is cause by a duplication of the protein PMP22 because of an un-balanced translocation of 17p11.2 from the 17th chromosome to the X chromosome. – CMT1A is also cause by a point mutation. Passing this disease – It is inherited by peripheral neuropathy. – It is found in 1 in 2,500 people. – The chance of passing it down is 50%, but that percent goes up to 75% when both parents have this disease. – 50% of infected people got this disease by the duplication of PMP22.
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