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  1. The Charcot-Marie-Tooth syndrome : clinical aspects from a population study in South Wales, UK.

    Article - En anglais

    The Charcot-Marie-Tooth (CMT) syndrome comprises a heterogeneous group of disorders affecting the peripheral nerves and anterior horn cells of the spinal cord.

    They constitute a significant proportion of the burden of disability caused by single gene neurological disorders, with a disease prevalence of 16.7 per 105 of the South Wales adult population.

    The clinical and genetic characteristics of these diseases in the population are described.

    In those cases identified as type I hereditary motor and sensory neuropathy (HMSN I), we have shown that it is possible to correlate disease severity with age, and that there is no clinical evidence for imprinting, manifest either in age of onset or disease severity.

    Mots-clés Pascal : Amyotrophie Charcot Marie Tooth, Royaume Uni, Europe, Homme, Phénotype, Epidémiologie, Système nerveux pathologie, Système nerveux central pathologie, Neuromusculaire pathologie, Moelle épinière pathologie, Maladie dégénérative, Maladie héréditaire

    Mots-clés Pascal anglais : Charcot Marie Tooth disease, United Kingdom, Europe, Human, Phenotype, Epidemiology, Nervous system diseases, Central nervous system disease, Neuromuscular diseases, Spinal cord disease, Degenerative disease, Genetic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0428047

    Code Inist : 002B17G. Création : 199406.