TY - JOUR
T1 - Outcome measures for Charcot-Marie-Tooth disease
T2 - Clinical and neurofunctional assessment in children
AU - Pagliano, Emanuela
AU - Moroni, Isabella
AU - Baranello, Giovanni
AU - Magro, Anita
AU - Marchi, Alessia
AU - Bulgheroni, Sara
AU - Ferrarin, Maurizio
AU - Pareyson, Davide
PY - 2011/9
Y1 - 2011/9
N2 - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was
AB - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was
KW - Charcot-Marie-Tooth disease
KW - childhood
KW - disability
KW - impairment
KW - outcome measures
UR - http://www.scopus.com/inward/record.url?scp=80055004059&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80055004059&partnerID=8YFLogxK
U2 - 10.1111/j.1529-8027.2011.00357.x
DO - 10.1111/j.1529-8027.2011.00357.x
M3 - Article
C2 - 22003938
AN - SCOPUS:80055004059
VL - 16
SP - 237
EP - 242
JO - Journal of the Peripheral Nervous System
JF - Journal of the Peripheral Nervous System
SN - 1085-9489
IS - 3
ER -