Natural history of CMT Type 2: a 2-year follow-up of muscle strength, walking a

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Neurol Sci. 2009 Dec 17

Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength,

walking ability and quality of life.

Padua L, Pareyson D, Aprile I, Cavallaro T, Quattrone DA, Rizzuto N, Vita G,

Tonali P, Schenone A.

Institute of Neurology, Università Cattolica del Sacro Cuore, Largo Francesco

Vito 1, Rome, Italy, lpadua@....

Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, no

therapies are available at the moment but clinical trials are ongoing. For that

reason it is very important to know the natural history of the disease. We

report the results of the natural history of clinical features and quality of

life (QoL) in patients with CMT2.

Twenty patients were enrolled. At recruitment and at follow-up (2 years), all

patients underwent neurological evaluation, QoL and disability assessments. The

study-end evaluation took place 20-28 months after the baseline evaluation.

During the 2-year follow-up period, CMT2 patients showed a mild reduction of

strength of distal muscles of upper limbs and proximal muscles of lower limbs, a

worsening sensory function and a mild increase in walking disability. However,

there was no relevant worsening of QoL, except for a mild deterioration of one

mental health domain.