Open AccessNeuropatía sensitiva y motora hereditaria: Enfermedad de Charcot Marie Tooth.
Author(s) -
Verónica Granda-Vivanco,
Tatiana Jaramillo-Herrera,
Lorena Conza González
Publication year - 2019
Publication title -
vozandes
Language(s) - English
Resource type - Journals
ISSN - 1390-1656
DOI - 10.48018/rmv301.4
Subject(s) - medicine , etiology , atrophy , physical examination , myelin , disease , nerve conduction velocity , muscle atrophy , hereditary motor and sensory neuropathy , carpal tunnel syndrome , physical medicine and rehabilitation , pathology , surgery , central nervous system
Charcot Mariet Tooth’s disease (ECMT) or hereditary sensory and motor neuropathy is the one of the most common group of degenerative disorders of the peripheral nervous system, related with a set of genetic alterations that changes the structure, formation and maintenance of myelin. It affects 1 out of 2500 people without considering the age, gender or ethnicity; its etiology is entirely genetic. According to the nerve conduction velocity it is classified in demyelinating or CMT1, axonal or CMT2 and intermediate the same that has the features of the two previous ones. ECMT in majority of cases it is a slowly progressive disease, presenting with characteristic signs of high instep, stork leg, atrophy and decreased muscle strength, altered perception of vibratory stimuli, distal beginning with proximal progression; arreflexia and alteration of march. The diagnosis is based on family history, clinical and physical examination, complemented by electromyography studies, to determine their classification. Genetic tests are taken, based on the type of suspected ECMT, and these will be used for family counseling. Nowadays there is no specific and curative treatment, that’s why support should be provided with physical and rehabilitation therapies, psychological, occupational, as well as an optimal pain control.