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Charcot Marie tooth disease is a genetic neuropathy characterise by both sensory and motor interest or else of being one . The disease was first happen upon by two scientists Charcot and Marie which was later exhaustively described by Tooth , hence the name . Unlike the separate sensory and motorneuropathies , CMT disease consists of both receptive and motor neuropathy together which is a differentiating feature of speech from other neuropathy , hence also known by the name of hereditary sensory and motor neuropathy(HSMN ) . Charcot Marie tooth disease mainly has been classified into 4 different types know as CMT 1 , 2 , 3 and 4 , although various other types have been discovered lately and are incorporated in the classification .
It is a disorderliness consisting of defect of myelin in CMT disease types 1 , 3 and 4 whereas CMT disease type 2 belong to axonal neuropathy . CMT disease type 1 suffers from defective medulla which well breaks off and leaves the nerves unmyelinated . CMT disease type 3 and 4 are more serious forms of CMT disease type 1 and also disagree in the pattern of inheritance . CMT 2 is related to the axonal dysfunction due to the neuronal disintegration and Wallerian degeneration of the nerve fiber get peripheral neuropathy but follows a similar pattern of inheritance like that of CMT disease type 1 .
Is Charcot Marie Tooth Disease Dominant Or Recessive?
These vary upon differences in the inherit genes and their presentation . The pattern of inheritance is usually autosomal in all four eccentric . These are further divide into various subtypes which belong to either autosomal prevalent or recessive hereditary pattern patterns . In the majority of the cases , CMT 1 and 2 are autosomal dominant disease whereas CMT 3 and 4 are unremarkably autosomal recessive in inheritance.[1]A few subtypes of CMT 1 are also autosomal recessive and even X linked but most usual subtype watch the autosomal dominant radiation diagram .
The gene associated with CMT disease eccentric 1 and type 3 is PMP 22 gene . CMT disease case 2 is associated with ATP1A1 gene and CMT type 4 is associated with the PRPS1 factor . CMT disease type 3 is also known as Dejerine sottas disease and CMT disease case 4 is also have it away by the name of refsum syndrome .
In the information compilation of various studies , the preponderance has been regain between 10 to 30 with the maximum number of cases belonging to CMT disease type 1 . It is a rather common disease in comparison to the other neurological conditions found in the patients and presentation of the disease comes to the symptomatic stage in first decade itself . There is no male or female prevalence see with equal dispersion among them . Racial and ethnic factors have not been pin down for any of the types of Charcot Marie tooth disease . Even after the presentation of the disease occurs in the former part of life but the patient can get by with it for the entire aliveness . It is because the CMT disease is slow progressive in nature and only in few fount is receive to be rapidly progressive in the age mathematical group of > 50 age .
Conclusion
Charcot Marie tooth disease follows an autosomal approach pattern in the most number of cases which can be dominant or recessive look upon the type of CMT disease . Since the CMT disease type 1 and 2 are the most rough-cut among all , it follow an autosomal prevalent formula of inheritance . A few cases of cristal link inheritance has also been describe . The autosomal dominant formula ensures the disease is determine in nearly every generation if one or both of the parent are affected whereas autosomal recessionary heritage is seen in only 25 % of the children whose both parents are carrier . If one parent is affected in autosomal recessive type of inheritance then the chances of involvement of children increases .
Due to the slow involution of the nerves , although the house and symptoms come at a very early age but take a lifetime to advance which in play increases the morbidity and decreases the quality of lifespan .
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