Neurol. pro Praxi, 2006; 3: 147-152

Dědičné periferní neuropatie

MUDr. Jana Haberlová1, MUDr. Radim Mazanec PhD2, MUDr. Pavel Seeman Ph.D2
1 Klinika dětské neurologie 2. LF UK a Centrum pro epilepsie FN Motol, Praha
2 Neurologická klinika 2. LF UK a FN Motol, Praha

Dědičné periferní neuropatie jsou heterogenní skupinou geneticky podmíněných degenerativních chorob postihující periferní nervy. Patří mezi nejčastější dědičná nervosvalová onemocnění. Kauzální terapie dosud není známa, nicméně diagnostika a klasifikace se v posledních letech rychle vyvíjí a to hlavně díky novým objevům molekulární genetiky. Jde o skupinu chorob která nezkracuje délku života, výrazně však ovlivňuje jeho kvalitu. Je častou příčinou poruchy a někdy i ztráty chůze, často vede ke snížené pracovní schopnosti, později nezřídka i k plné invaliditě.

Keywords: klasifikace, fenotypy, diagnostika, terapie

Published: July 1, 2006  Show citation

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Haberlová J, Mazanec R, Seeman P. Dědičné periferní neuropatie. Neurol. praxi. 2006;7(3):147-152.
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