Neurológia pre prax 2/2020

Charcot-Marie-Toothdisease as the most common inherited neuropathy: a case report from our department

Hereditary peripheral neuropathies represent a large group of genetic neurological diseases presenting with a heterogeneous clinical picture. We mainly think about these disorders at positive family history, presentation of chronic and progressive muscle weakness, atrophy of the limbs and by the presence of typical foot deformities appears. This article closely focuses on the most common hereditary neuropathy – Charcot-Marie-Tooth (CMT) disease and the accelerated progression of this disease in combination with chronic alcohol abuse in our patient's case report.

Keywords: hereditary neuropathy, Charcot-Marie-Tooth disease, demyelination, CMT1, genetics, alcohol abuse, vitamin C