CMT 1A: Correlation between clinical/neurophysiological findings & quality of li

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J Peripher Nerv Syst. 2008 Mar;13(1):64-70.

Correlation between clinical/neurophysiological findings and quality

of life in Charcot-Marie-Tooth type 1A.

Padua L, Shy ME, Aprile I, Cavallaro T, Pareyson D, Quattrone A,

Rizzuto N, Vita G, Tonali P, Schenone A.

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome,

Italy.

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.