Argov Zohar, Bronstein Faye, Esposito Alicia, Feinsod-Meiri Yael, Florence Julaine M, Fowler Eileen, Greenberg Marcia B, Malkus Elizabeth C, Rebibo Odelia, Siener Catherine S, Caraco Yoseph, Kolodny Edwin H, Lau Heather A, Pestronk Alan, Shieh Perry, Skrinar Alison M, Mayhew Jill E
*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; ‖NYU Division of Neurogenetics, New York, NY; **UCLA Department of Neurology, Los Angeles, CA; and ††Clinical Outcomes Research and Evaluation, Ultragenyx Pharmaceutical, Inc, Novato, CA.
J Clin Neuromuscul Dis. 2017 Sep;19(1):19-26. doi: 10.1097/CND.0000000000000181.
To characterize the pattern and extent of muscle weakness and impact on physical functioning in adults with GNEM.
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).
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.
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.
描述成年糖原贮积性肌病患者肌肉无力的模式、程度及其对身体功能的影响。
使用手持测力计、徒手肌力测试、上下肢功能能力测试以及糖原贮积性肌病功能活动量表（GNEM-FAS）对糖原贮积性肌病患者（n = 47）的力量和功能进行评估。
使用手持测力计按照先前描述的特征模式测量出上下肢严重肌肉无力。功能测试和临床医生报告的结果证明了肌肉无力对身体功能的影响。
使用这些肌肉力量和功能的临床结局评估方法，可以可靠地测量与糖原贮积性肌病相关的上下肢肌肉无力的特征模式以及由此产生的功能限制。
