Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A |
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| Authors: | Padua Luca Shy Michael E Aprile Irene Cavallaro Tiziana Pareyson Davide Quattrone Aldo Rizzuto Nicolo Vita Giuseppe Tonali Pietro Schenone Angelo |
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| Affiliation: | Institute of Neurology, UniversitàCattolica del Sacro Cuore, Rome, Italy;;Fondazione Don Carlo Gnocchi, Rome, Italy;;Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA;;Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy;;Dipartimento di Neurologia Istituto Nazionale Neurologico C. Besta, Istituto Nazionale Neurologico "C. Besta," Milan, Italy;;Dipartimento di Scienze Neurologiche, Azienda O.U. Policlinico di Catanzaro, Universitàdi Catanzaro, Catanzaro, Italy;;Department of Neuroscience, Psychiatry and Anaesthesiology, Azienda O.U. Policlinico di Messina, Messina, Italy;;and Department of Neurological and Visual Sciences, Universitàdi Genova, Genova, Italy |
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| Abstract: | Abstract Quality of life (QoL), as defined by the Short Form 36, has previously been shown to be abnormal in patients with Charcot-Marie-Tooth disease (CMT), both for Physical Composite Scores (PCS) and Mental Composite Scores (MCS). We have now extended these observations in a multicenter evaluation of 89 patients with Charcot-Marie-Tooth disease type 1A, the most common form of CMT. Both the PCS and MCS were abnormal also in this cohort, compared with the Italian population at large. In particular, the ability to ambulate independently as well as toe and heel walk correlated well with QoL measures in our patients. |
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| Keywords: | Charcot-Marie-Tooth type 1A neurophysiology quality of life |
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