title: Therapeutic options in Charcot-Marie-Tooth diseases.
abstract: Charcot-Marie-Tooth (CMT) diseases represent a heterogeneous genetic disorder (more than 80 genes are implicated in these inherited neuropathies), but sharing a similar phenotype. In recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of CMT, have led to a better understanding. Taken together, this knowledge represents a prerequisite for the development of future therapies in CMT, and in peripheral nervous system disorders in general. The efficacy of various substances has been shown in vitro and also in vivo (in animal models); but, no significant positive effect has yet been confirmed in humans. However, some of these trials are still in development, and we may expect positive results in the future. Although CMT is still an incurable disease, symptomatic treatments (physiotherapy, surgery, analgesic, etc.) are crucial to improve the quality of life of CMT patients.
authors.affiliation: Department of Neurology, University Hospital, 2 rue de la Milétrie, 86021, Poitiers, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.forename: Laurent
authors.initials: L
authors.lastname: Magy
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D000066491:Clinical Decision-Making; D019468:Disease Management; D004195:Disease Models, Animal; D006801:Humans; D017063:Outcome Assessment, Health Care; D017933:Peripheral Nervous System / Q000473:pathology
keywords: CMT; Charcot–Marie–Tooth disease; GJB1; MPZ; PMP22; animal model; dHMN; myelin