title: Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.
abstract: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom management. Past pharmacological trials have failed, possibly due to insensitive outcome measures (OMs). The aim of the current study was to evaluate the validity and reliability of the 6-min walk test (6MWT) and StepWatch(™) Activity Monitoring (SAM) with other previously validated OMs in CMT disease.
  
  
  
  A prospective multicenter study was performed, consecutively enrolling 168 CMT patients (104 with CMT1A, 27 with CMT1B, 37 with X-linked CMT) from Italian centers specializing in CMT care.
  
  
  
  Statistical analysis showed that the 6MWT was highly related with all previously used OMs. Some, but not all, SAM parameters were related to commonly used OMs but may provide more information about quality of life.
  
  
  
  The current study demonstrated the validity and reliability of the 6MWT and SAM as OMs for CMT. Moreover, SAM provides data that correlate better with quality of life measures, making it useful in future rehabilitation trials.
authors.affiliation: Department of Neuroscience, Don Carlo Gnocchi Onlus Foundation, Milan, Italy.|Department of Geriatrics, Neuroscience and Orthopedics, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Padua
authors.affiliation: Department of Neuroscience, Don Carlo Gnocchi Onlus Foundation, Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Pazzaglia
authors.affiliation: Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: Department of Neuroscience, Ospedale San Martino Genova, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.affiliation: Department of Neuroscience, Ospedale San Martino Genova, Genoa, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Aiello
authors.affiliation: Department of Neurological, Biomedical and Motor Sciences, University of Verona, Verona, Italy.
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.affiliation: UOC Neurologia B, AOUI Verona, Verona, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.affiliation: Department of Neurological Sciences, Reproductive Sciences and Odontostomatological, 'Federico II' University, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.affiliation: Department of Neurological Sciences, Reproductive Sciences and Odontostomatological, 'Federico II' University, Naples, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Manganelli
authors.affiliation: Department of Neurosciences, University of Parma, Parma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gemignani
authors.affiliation: Department of Neurosciences, University of Parma, Parma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Vitetta
authors.affiliation: Department of Medical Sciences, 'Magna Graecia' University, Catanzaro, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.affiliation: Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Mazzeo
authors.affiliation: Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Russo
authors.affiliation: Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.|Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Vita
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008991:Monitoring, Physiologic; D017063:Outcome Assessment, Health Care; D011446:Prospective Studies; D011788:Quality of Life; D015203:Reproducibility of Results; D000070857:Walk Test; D016138:Walking; D055815:Young Adult
keywords: Charcot−Marie−Tooth; outcome measures; quality of life; rehabilitation