International Journal of Physical Medicine & Rehabilitation
Open Access

Department of Health Sciences, University of Beira Interior, Horizonte Family Health Unit, Covilha, Portugal

Publications

• Case Report   
  Charcot-Marie-Hereditary Neuropathy: A Dental Disorder
  Author(s): Mariana Ribeiro, Constanca Hipolito-Reis, Claudio Ferreira and 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 underestimati.. View More»
  DOI: 10.35248/2329-9096.24.S25.004

  Abstract HTML PDF