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Charcot Marie Tooth ( CMT ) disease is a hereditary sensory and motor neuropathy that affects the peripheral nerves . The symptoms are in the main seen during adolescence or early childhood but the disease is usually a genetic disease and would have been present for a foresighted time . The severeness varies from one individual to another but most multitude live a near - normal biography . The symptom chiefly involve the nerve of the branch and hands and patients can have brawn weakness and passing of sensation . Respiratory muscle weakness can occur in some patients which can be living - threaten other than that most patients live with minimum disabilities .
What Leads To Charcot Marie Tooth?
The inheritance can be autosomal dominant , autosomal recessionary or X - relate . Charcot Marie Tooth occurs due to mutation in unlike gene that give instruction to make proteins that are involve with the function of the peripheral nervus in the animal foot , leg , paw , and arms . The precise abnormality Charcot Marie Tooth gene variation induce in these proteins is clearly not known . More than 30 factor chromosomal mutation have been identified as movement for Charcot Marie Tooth . The most probable theory is a fault in these proteins impair the nerve conduction through axone or affect the cellular phone that produce myelin in the heart cells . The axons are the consistency of each nerve prison cell and it serve in the signal transmittal between nerve cells . The nerves that are longer and nerves that channelise signaling to appendage are affect more as the axon are longer in these nerves and with the mutation the signal transmission in these nerves becomes unnatural . Therefore , nerves in the extremity are affect more than other parts of the body . So , with metre the peripheral nerves fall back the ability to carry signal from the mind for muscle move and lose the power to take sensational signals from periphery to the brain . Different cistron mutations in the same factor can do several symptoms and different types of Charcot Marie Tooth .
70 - 80 % of patients with CMT1 have mutation in the PMP22 gene . 10 - 12 % of patient have CMT1 mutant in the MPZ gene . Some of the other type of CMT patients also have a gene chromosomal mutation in the MPZ factor . 20 % of CMT2 patient role have a cistron genetic mutation in the MFN2 gene . 90 % of CMTX patients have a gene mutation in the GJB1 gene . There is a huge list of cistron mutation in different type of Charcot Marie Tooth.(1 ) ( 2 ) ( 3 )
Can Charcot Marie Tooth Disease Be Cured?
There is no therapeutic available for Charcot Marie Tooth . Treatment is mainly supportive and symptomatic management . Most patient role have a normal life and improve the tone of liveliness with diagnostic and supportive direction . A multidisciplinary squad should be involved with the direction and this team should comprise of a genetic counsellor , forcible therapist , occupational healer , nanny , and orthopedic surgeon . discussion is mainly diagnostic and mainly involves physical therapy and occupational therapy as the main symptoms are a weakness in extremities . This can meliorate the helplessness and forbid brawniness contracture . The adept can not be regained but the grandness is patient being mindful of the sensory loss and doing day-to-day medical for skin burns and other injuries as untreated wound can extend to ulcer . Some patients spring up breathing difficultness and these patients need equipment that deliver air under pressure to the lungs especially at nighttime . a pressure sensation documentation ventilator that can be used to improve the symptoms .
Conclusion
The inheritance can be autosomal dominant , autosomal recessive or X - linked . Charcot Marie Tooth occurs due to mutations in unlike cistron that give instruction to make proteins that are involved with the function of the peripheral nerves in the feet , wooden leg , hand , and blazonry . More than 30 gene mutation have been identify as cause for Charcot Marie Tooth . The most probable theory is a fault in these protein mar the nerve conductivity through axon or regard the cells that produce myelin in the nerve cells . There is no therapeutic usable for Charcot Marie Tooth . intervention is in the main supportive and symptomatic direction . Most patients have a normal life history and ameliorate the quality of life with symptomatic and supportive management .
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