STAGIONE 3 EPISODIO 30 - Charcot-Marie-Tooth: quello che c'è da sapere

from NEUROPOD · host SOCIETA' ITALIANA DI NEUROLOGIA

PODCASTER SENIOR: Davide Pareyson;PODCASTER JUNIOR: Andi Nuredini;RAZIONALE:La malattia di Charcot-Marie-Tooth (CMT) è la più frequente neuropatia su base ereditaria, e colpisce circa 1 persona ogni 2500. La CMT può esordire in età pediatrica o più tardivamente e le manifestazioni cliniche possono variare in modo sostanziale anche all'interno della stessa famiglia. Clinicamente la CMT è caratterizzata da progressiva debolezza e atrofia muscolare distale, riflessi osteotendinei assenti o ridotti, disturbi sensoriali e deformità distali. Mutazioni a carico di più di 80 geni sono state associate a CMT ma si conosce ancora poco sulla correlazione genotipo-fenotipo nelle varie forme e purtroppo, sebbene la ricerca in materia sia molto attiva, ad oggi non è disponibile una terapia disease-modifying efficace.

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STAGIONE 3 EPISODIO 30 - Charcot-Marie-Tooth: quello che c'è da sapere

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