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Charcot Marie Tooth ( CMT ) disease is an inherited disease that pretend the peripheral motor and sensory nerves . It ’s also known as hereditary motor and sensory neuropathy and uncouth neurological disease that affects about 1 in 2,500 masses in the US . Charcot Marie Tooth ordinarily onset in early childhood or late maturity but the symptoms become unmistakable during adolescence or early maturity .
How Is Charcot Marie Tooth Passed Down?
The pattern of heritage of Charcot Marie Tooth deepen according to the type of Charcot Marie Tooth . The follow table summarizes the heritage pattern of each type of Charcot Marie Tooth .
An autosomal rife heritage shape mean that one copy of the mutated gene should be present to get the disorder . Most Charcot Marie Tooth patient have one parent with the stirred cistron . In this situation , there is a 50 % chance of children getting Charcot Marie Tooth .
An autosomal recessive heritage pattern imply both copy of the mutate cistron should be present to get the upset . In this caseful , both parent should have the mutate gene and it should be passed down to the child to get Charcot Marie Tooth . If only one factor is make it down then that person becomes a carrier .
In the X - linked dominant hereditary pattern pattern , the mutate cistron is locate on the cristal - chromosome . One written matter of the mutate factor is sufficient to get the disease . In most the cases , the male person are affected more as they only have one X - chromosome and the affected gene will be present in it , whereas in female one XTC - chromosome would be normal and the other chromosome will have the mutate gene , therefore , females have few symptoms . Fathers with the mutate X - chromosome would not pass it down to their sons and all daughter from an affected father will get one mutated chromosome however , the symptom might not be that severe.(1 ) ( 2 ) ( 3 )
Sometimes CMT can occur due to newfangled factor mutations especially autosomal dominant and x - linked types of CMT ’s .
Does Charcot Marie Tooth Disease Make You Tired?
Respiratory muscle weakness is rare in Charcot Marie Tooth masses but some patients get it and this can be a animation - threatening situation . The cause for breathing trouble and tiredness in Charcot Marie Tooth patient is diaphragmatic dysfunction . This takes place when your phrenic nerve is regard which can lead to phrenic nerve palsy and this causes diaphragmatic failure . So , if you regularly feel commonplace and shortness of breath you should inform your Dr. so that the situation can be assessed and further management can be carried out . You need equipment that fork up air under imperativeness to the lungs particularly at dark . a pressure support ventilator that can be used to improve the symptoms . BiPAP ( bilevel or two - level positive airline business force per unit area ) and CPAP ( continuous electropositive air passage pressure ) are two devices that can be used . CPAP delivers a single pressure whereas BiPAP render inhale and exhale press . BiPAP is best for Charcot Marie Tooth patients.(4 )
Conclusion
The pattern of inheritance of Charcot Marie Tooth change accord to the case of CMT . CMT1 , CMT2 are autosomal dominant that means a mutation in one factor is enough to do CMT . CMT4 , CMT2 , and CMTDI are autosomal recessionary that means a mutation in both genes is needed to cause Charcot Marie Tooth . CMTRI and CMTX are x - join predominant which means the mutate gene is place on the X - chromosome and one written matter of the mutate cistron is sufficient to get the disease . Respiratory musculus weakness is rare in Charcot Marie Tooth people but some patients get it and this can be a life - threatening situation . This pass when the phrenic nerve is affected which can lead to phrenic boldness palsy and this cause diaphragmatic failure lead to poor airline business transport . You demand devices that deliver air under pressure to the lung especially at dark . A pressure support ventilator which can be used to improve the symptoms .
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