TY - JOUR
T1 - Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy
AU - Argov, Zohar
AU - Bronstein, Faye
AU - Esposito, Alicia
AU - Feinsod-Meiri, Yael
AU - Florence, Julaine M.
AU - Fowler, Eileen
AU - Greenberg, Marcia B.
AU - Malkus, Elizabeth C.
AU - Rebibo, Odelia
AU - Siener, Catherine S.
AU - Caraco, Yoseph
AU - Kolodny, Edwin H.
AU - Lau, Heather A.
AU - Pestronk, Alan
AU - Shieh, Perry
AU - Skrinar, Alison M.
AU - Mayhew, Jill E.
N1 - Funding Information:
From the *Department of Neurology, Hadassah University Medical Center, Jerusalem, Israel; †Physical Medicine and Rehabilitation Department, NYU Langone Medical Center-Rusk Institute, New York, NY; ‡Clinical Research Unit, Hadassah University Medical Center, Jerusalem, Israel; §Washington University School of Medicine, Neuromuscular Division, St. Louis, MO; ¶UCLA Department of Orthopaedic Surgery, Kameron Gait and Motion Analysis Laboratory, Los Angeles, CA; kNYU Division of Neurogenetics, New York, NY; **UCLA Department of Neurology, Los Angeles, CA; and ††Clinical Outcomes Research and Evaluation, Ultragenyx Pharmaceutical, Inc, Novato, CA. Z. Argov, F. Bronstein, A. Esposito, Y. Feinsod-Meiri, J. M. Florence, E. Fowler, M. B. Greenberg, E. C. Malkus, O. Rebibo, C. S. Siener, Y. Caraco, E. H. Kolodny, H. A. Lau, A. Pestronk, and P. Shieh, receive clinical trial support from Ultragenyx Pharmaceutical Inc. A. M. Skrinar and J. E. Mayhew are employed by Ultragenyx Pharmaceutical Inc.
Funding Information:
MMT was performed bilaterally for the ankle dorsiflexors and ankle plantarflexors. Modified Medical Research Council (MRC) scoring was used with grades ranging from 0 (no palpable muscle activity) to 5 (normal strength).22
Publisher Copyright:
© 2017 The Author(s). Published by Wolters Kluwer Health, Inc.
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
KW - GNE myopathy
KW - Nonaka disease
KW - distal myopathy with rimmed vacuoles (DMRV)
KW - hereditary inclusion body myopathy (HIBM)
KW - muscle function
KW - muscle strength
UR - http://www.scopus.com/inward/record.url?scp=85028670857&partnerID=8YFLogxK
U2 - 10.1097/CND.0000000000000181
DO - 10.1097/CND.0000000000000181
M3 - Article
C2 - 28827485
AN - SCOPUS:85028670857
SN - 1522-0443
VL - 19
SP - 19
EP - 26
JO - Journal of Clinical Neuromuscular Disease
JF - Journal of Clinical Neuromuscular Disease
IS - 1
ER -