Duarte-Martínez MC, Peñaherrera-Oviedo CA

Language: Spanish
References: 17
Page: 54-62
PDF size: 1593.38 Kb.

ABSTRACT

Hereditary neuropathies are a heterogeneous group of diseases that present during the first two decades of life and have an important impact on the quality of life. Charcot-Marie-Tooth disease is the most common congenital peripheral neuropathy, and there are several gene mutations associated with the disease. The different patterns of inheritance it presents complicate a diagnostic approach. Proper management of family history, along with evidence from nerve conduction studies and pathology are vital for early detection and appropriate treatment. In recent years, genetic analysis has arisen as a tool for definitive diagnosis. We report the case of a patient with a previously misdiagnosed sensory-motor hereditary polyneuropathy, and make a discussion about the disease in order to provide an update on the subject.

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