Charcot-Marie-Tooth disease: A Case Report
DOI:
https://doi.org/10.46858/vimshsj/9405Keywords:
Charcot-Marie Tooth, Hereditary neuropathies, HMSN, Demyelinating disorder, PRX geneAbstract
Charcot-Marie-Tooth (CMT) disease is one of the most common genetically inherited neuromuscular disorder causing peripheral neuropathies. More than 60 different gene mutations are causing this disease and affecting approximately 1 in every 2500 people. We report a case of previously healthy 14-year-old male presented to the OPD with progressive walking difficulty since 4 years of age. Electromyography showed senori-motor axonal peripheral neuropathy compatible with CMT type 2. Patients with Charcot Marie Tooth should invariably be part of an ongoing multidisciplinary plan of care in regards to their functional impairments.
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Copyright (c) 2023 Dr. Snehal S. Jagtap, Dr. Harish Jadhav, Dr. Suresh Waydande, Prof. Dr. Sunil Natha Mhaske, Dr. Abhijit Shinde, Dr. Sushrut Kumar
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