0-TESTO COMPLETO.pdf - Fondazione Santa Lucia

Sezione III: Attività per progetti
LIST OF PARTICIPATING UNITS
U.O. 1 – Centro S. Maria della Pace, Fondazione Don Carlo Gnocchi, Roma –
Luca Padua
U.O. 2 – Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milano –
Davide Pareyson
U.O. 3 – Università degli Studi di Genova, Dipartimento di Neuroscienze,
Oftalmologia e Genetica – Angelo Schenone
U.O. 4 – IRCCS Santa Maria Nascente, Fondazione Don Carlo Gnocchi,
Polo Tecnologico, Milano – Marco Rabuffetti
U.O. 5 – Fondazione Istituto Neurologico Casimiro Mondino IRCCS,
Unità di Riabilitazione Neurologica, Pavia – Giorgio Sandrini
U.O. 6 – Fondazione Santa Lucia IRCCS, Laboratorio di Imaging
neuroelettrico e Brain Computer Interface, Roma – Donatella Mattia
U.O. 7 – Università degli Studi di Roma La Sapienza, Dipartimento Scienze
dell’Apparato Locomotore – Valter Santilli
U.O. 8 – IRCCS S. Maria agli Ulivi, Fondazione Don Carlo Gnocchi,
Unità di Neuroriabilitazione, Pozzolatico – Assunta Pizzi
DESCRIPTION OF THE PROJECT
What is already known on the subject
Charcot-Marie-Tooth disease (CMT), the most common “ rare ” inherited
neurological disorder (prevalence 1:2,500), represents a genetically heterogeneous
group of peripheral neuropathies sharing the same clinical phenotype
(distal limb muscle wasting and weakness, skeletal deformities, distal sensory
loss, reduced deep tendon reflex) [1] . Although an Italian randomized clinical
trial of ascorbic acid in the most common CMT variety (CMT1A) is ongoing [2] ,
rehabilitation and surgery are the only available approaches. There is evidence
that physical therapy and moderate exercise are effective for CMT [3] .
There is no consensus on rehabilitation treatments, when, how and how long
they should be entertained, and how to measure their efficacy. A main objective
of a business is to optimize the production through standardization of the
production processes.
This may apply to health care system, goals being appropriateness, accessibility,
high quality. Means to achieve them are: (a) to improve business
processes concerning allocation of health care services, (b) monitoring of
quality services through standardized tools and methodologies, (c) modification
of management according to needs and monitoring results. Network,
information and formation aimed at standardized treatment protocols are
fundamental tools to improve health care efficiency.
In many rare diseases, rehabilitation is essential to the health care continuum,
reinforcing positive health behaviors, and often it is the only available
approach, but the best rehabilitation approach is not well known because of
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