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

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.

Limitations in daily activities and general perception of quality of life: Long term follow‐up in patients with anti‐myelin‐glycoprotein antibody polyneuropathy

“…The following assessments were performed in all patients: MRC (Medical Research Council) Sum Score to test muscle strength (12 muscle for each side) Sensory Modality Sum score (SMS) Visual Analogue Scale (VAS) to evaluate pain self‐reported Rasch built 7 item modified FSS to investigate fatigue Berg Balance Scale to evaluate balance Nine‐hole peg test (9‐HPT) to investigate hand dexterity, with the score calculated by averaging three attempts in the dominant hand 6‐minute walk distance to test the walking performance of the patient Impact on Participation and Autonomy questionnaire (IPA), divided in two different subscales for indoor and outdoor activities self‐reported Medical Outcome Study 36‐item short‐form health status scale (SF‐36) for quality of life, with the 36 items divided in eight subscales …”

“…• Berg Balance Scale to evaluate balance 19,23 • Nine-hole peg test (9-HPT) to investigate hand dexterity, with the score calculated by averaging three attempts in the dominant hand 24,25 • 6-minute walk distance to test the walking performance of the patient 26,27 • Impact on Participation and Autonomy questionnaire (IPA), divided in two different subscales for indoor and outdoor activities [28][29][30][31] • self-reported Medical Outcome Study 36-item short-form health status scale (SF-36) for quality of life, with the 36 items divided in eight subscales. 32,33 3 | STATISTICAL ANALYSIS Significance between groups was checked by using the t test for normally distributed variables or the Mann-Whitney U test for ordinal variables.…”

Aktuelles zur Charcot-Marie-Tooth-Erkrankung

“…Weiterhin wurde das bei anderen Neuropathien bereits eingesetzte Neurofilament als Tool zur Prüfung der sensiblen Beeinträchtigung auch für CMT etabliert [85]. Weitere Skalen umfassen den CMT-Neuropathie-Score (CMTNS) [86], den 9-hole-peg-test [87], den 6-und 10-meter-walktest (6MWT, 10MWT) [88] und die Overall-neuropathy-limitation-scale (ONLS) [89]. Alle wurden mehrfach in klinischen Studien eingesetzt, sie erlauben aber keine funktionsbasierten Einschätzungen der Erkrankungsschwere.…”

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)

“…It evaluates the global and integrated responses of all the systems involved in walking, including the pulmonary and cardiovascular systems and neuromuscular units. Because the 6MWT accurately reflects patients' activities of daily living, it has been applied widely for evaluation of functional exercise capacity in neuromuscular disorders such as myotonic dystrophy [12] , Pompe disease [13] , Duchenne muscular dystrophy [14] , diabetic neuropathies [15] and Charcot-Marie-Tooth disease [16] .…”