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; Perry Shieh; Alison M. Skrinar; Jill E. Mayhew

doi:10.1097/CND.0000000000000181

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, Perry Shieh, Alison M. Skrinar, Jill E. Mayhew

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13 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	19-26
Number of pages	8
Journal	Journal of clinical neuromuscular disease
Volume	19
Issue number	1
DOIs	https://doi.org/10.1097/CND.0000000000000181
State	Published - Sep 1 2017

Keywords

GNE myopathy
Nonaka disease
distal myopathy with rimmed vacuoles (DMRV)
hereditary inclusion body myopathy (HIBM)
muscle function
muscle strength

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10.1097/CND.0000000000000181

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Argov, Z., Bronstein, F., Esposito, A., Feinsod-Meiri, Y., Florence, J. M., Fowler, E., Greenberg, M. B., Malkus, E. C., Rebibo, O., Siener, C. S., Caraco, Y., Kolodny, E. H., Lau, H. A., Pestronk, A., Shieh, P., Skrinar, A. M., & Mayhew, J. E. (2017). Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy. Journal of clinical neuromuscular disease, 19(1), 19-26. https://doi.org/10.1097/CND.0000000000000181

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title = "Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy",

abstract = "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.",

keywords = "GNE myopathy, Nonaka disease, distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (HIBM), muscle function, muscle strength",

author = "Zohar Argov and Faye Bronstein and Alicia Esposito and Yael Feinsod-Meiri and Florence, {Julaine M.} and Eileen Fowler and Greenberg, {Marcia B.} and Malkus, {Elizabeth C.} and Odelia Rebibo and Siener, {Catherine S.} and Yoseph Caraco and Kolodny, {Edwin H.} and Lau, {Heather A.} and Alan Pestronk and Perry Shieh and Skrinar, {Alison M.} and Mayhew, {Jill E.}",

note = "Publisher Copyright: {\textcopyright} 2017 The Author(s). Published by Wolters Kluwer Health, Inc.",

year = "2017",

month = sep,

day = "1",

doi = "10.1097/CND.0000000000000181",

language = "English",

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journal = "Journal of clinical neuromuscular disease",

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Argov, Z, Bronstein, F, Esposito, A, Feinsod-Meiri, Y, Florence, JM, Fowler, E, Greenberg, MB, Malkus, EC, Rebibo, O, Siener, CS, Caraco, Y, Kolodny, EH, Lau, HA, Pestronk, A, Shieh, P, Skrinar, AM & Mayhew, JE 2017, 'Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy', Journal of clinical neuromuscular disease, vol. 19, no. 1, pp. 19-26. https://doi.org/10.1097/CND.0000000000000181

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.

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

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DO - 10.1097/CND.0000000000000181

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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 -

Characterization of Strength and Function in Ambulatory Adults with GNE Myopathy

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