Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy

Zohar Argov; Faye Bronstein; Alicia Esposito; Yael Feinsod-Meiri; Julaine M. Florence; Eileen Fowler; Marcia B. Greenberg; Elizabeth C. Malkus; Odelia Rebibo; Catherine S. Siener; Yoseph Caraco; Edwin H. Kolodny; Heather A. Lau; Alan Pestronk; et al. 2017 Journal of Clinical Neuromuscular Disease, Volume 19, Issue 1, Pages 19-26 Read More


Objective: To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM. Methods: Strength and function were assessed in GNEM subjects (n = 47) using hand-held dynamometry, manual muscle testing, upper and lower extremity functional capacity tests, and the GNEM-Functional Activity Scale (GNEM-FAS). Results: Profound upper and lower muscle weakness was measured using hand-held dynamometry in a characteristic pattern, previously described. Functional tests and clinician-reported outcomes demonstrated the consequence of muscle weakness on physical functioning. Conclusions: The characteristic pattern of upper and lower muscle weakness associated with GNEM and the resulting functional limitations can be reliably measured using these clinical outcome assessments of muscle strength and function. © 2017 The Author(s). Published by Wolters Kluwer Health, Inc.

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Posted on September 21, 2017
Posted in: HPAN, Neurodegeneration, Publications Authors: