Natural History CMT1A including QoL: a 2 year prospective study

Luca Padua, D Pareyson, Irene Giovanna Aprile, T Cavallaro, A Quattrone, N Rizzuto, G Vita, Pietro Attilio Tonali, A. Schenone

Research output: Contribution to journalArticle

34 Citations (Scopus)


The Italian CMT study group performed a multicentre, multidimensional, longitudinal 2-year follow-up study using validated measurements of neurological impairment, disability and quality of life. The aim of the study was to evaluate the natural history of clinical features, disability and QoL in patients with CMT1A. On clinical examination, CMT1A patients showed a significant reduction in muscle strength and sensory function during the 2-year follow-up period. However, there was no worsening of QoL or disability, nor was depression observed. The discrepancy between the evolution of clinical features and the evolution of QoL and disability may be due to the development of compensatory strategies that help patients cope with the slow progression of the disease. Our observations provide information which may be useful when designing clinical trials in CMT.
Original languageEnglish
Pages (from-to)199-203
Number of pages5
JournalJournal of Clinical Neuromuscular Disease
Publication statusPublished - 2008


  • CMT
  • Quality of Life


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