CHARCOT-MARIE-TOOTH SYNDROME - CLINICOGEN ETIC CORRELATION IN AN AFFECTED FAMILY

Hereditary motor and sensory neuropathy (HMSN) is one of the most freq uently inherited causes of peripheral neurological disability. To date , the classification has been based on clinical, histological and gene tic grounds. Due to increased genetic knowledge at the molecular level in recent years, diagnosis of the different subtypes has been conside rably improved and their relationship clarified. We describe three gen erations of a family with HMSN IA (Charcot-Marie-Tooth disease IA = CM T 1A) with a genetic defect mapped to chromosome 17 and show the impor tance of genetic testing. Even in benign and clinically non-manifested causes of the disease, an early and non-invasive diagnosis should be made by genetic testing to identify affected persons; thus, nerve biop sy can be abandoned. Operations of pes cavus, which are not indicated and are often complicated by delayed healing, may be avoided. Instead, patients should undergo early physiotherapy and be counselled about t heir professional careers and family planning.