がん研究と免疫腫瘍学ジャーナル
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概要

Charcot-Marie-Hereditary Neuropathy: A Dental Disorder

Mariana Ribeiro, Constanca Hipolito-Reis, Claudio Ferreira, Rita Amorim Pinto Correia

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy affecting the peripheral nervous system due to genetic mutations impacting the myelin sheath or axon. The main types include CMT 1 (demyelinating), CMT 2 (axonal), and CMTX (X-linked CMT). Symptoms progress insidiously, starting with foot deformities and weakness in the lower limbs, potentially advancing to the upper limbs. Diagnosis involves clinical evaluation, electro diagnostic tests and genetic testing. Treatment aims to manage symptoms. This case discusses a 66-year-old man with flaccid tetra paresis and glove-and-stocking hypoesthesia, with a family history of CMT. Electromyography indicated predominantly axonal sensorimotor polyneuropathy, leading to a diagnosis of CMT 2. He is being treated in primary care with physiotherapy focused on functionality and gait. The late diagnosis stemmed from the patient underestimating his symptoms. CMT is challenging to diagnose in primary care, highlighting the need for collaboration with neurology and thorough assessments to manage the condition effectively.