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The Charcot‐Marie‐Tooth syndrome: clinical aspects from a population study in South Wales, UK
Author(s) -
MacMillan John C.,
Harper Peter S.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04009.x
Subject(s) - tooth disease , medicine , disease , hereditary motor and sensory neuropathy , population , age of onset , pediatrics , peripheral neuropathy , pathology , endocrinology , environmental health , diabetes mellitus
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 10 5 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.