Salazar Rachel, Montes Jacqueline, Dunaway Young Sally, McDermott Michael P, Martens William, Pasternak Amy, Quigley Janet, Mirek Elizabeth, Glanzman Allan M, Civitello Matt, Gee Richard, Duong Tina, Mazzone Elena S, Main Marion, Mayhew Anna, Ramsey Danielle, Muni Lofra Robert, Coratti Giorgia, Fanelli Lavinia, De Sanctis Roberto, Forcina Nicola, Chiriboga Claudia, Darras Basil T, Tennekoon Gihan I, Scoto Mariacristina, Day John W, Finkel Richard, Muntoni Francesco, Mercuri Eugenio, De Vivo Darryl C
Departments of Neurology (Drs Salazar, Montes, Young, Chiriboga, and De Vivo) and Rehabilitation and Regenerative Medicine (Drs Montes and Young), Columbia University Medical Center, New York, New York; Departments of Biostatistics and Computational Biology (Dr McDermott) and Neurology (Mr Martens and Dr McDermott), University of Rochester, Rochester, New York; Departments of Neurology (Dr Darras) and Physical Therapy and Occupational Therapy Services (Drs Pasternak and Mirek and Ms Quigley), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Division of Neurology (Dr Tennekoon) and Department of Physical Therapy (Dr Glanzman), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology (Mr Civitello and Dr Finkel), Nemours Children's Hospital, Orlando, Florida; Department of Neurology (Mr Gee, Ms Duong, and Dr Day), Stanford University School of Medicine, Palo Alto, California; Department of Paediatric Neurology (Mss Mazzone, Coratti, and Fanelli, Messrs De Sanctis and Forcina, and Dr Mercuri), Catholic University, Rome, Italy; Dubowitz Neuromuscular Centre (Mss Main and Ramsey and Drs Scoto and Muntoni), UCL Great Ormond Street Institute of Child Health, London, United Kingdom; John Walton Muscular Dystrophy Research Centre (Dr Mayhew and Mr Muni Lofra), Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.
Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515.
To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, and to establish preliminary thresholds to identify individuals at risk for performing poorly on disease-specific motor function outcome measures.
Eighty participants with SMA types 2 and 3, enrolled in an international multicenter natural history study, were evaluated with lower extremity range of motion testing and the Hammersmith Functional Motor Scale-Expanded.
A hip extension joint angle of -7.5° or less for SMA type 2 and 0° or less for SMA type 3 identified diminished motor ability with good sensitivity. For knee extension, a joint angle of -9.0° or less for SMA type 2 or 0° or less for SMA type 3 was similarly sensitive.
Minimal hip and knee joint contractures were associated with diminished motor ability. Clinical trial designs should consider the effect of contractures on motor function.
定量描述2型和3型脊髓性肌萎缩症（SMA）患者下肢被动活动范围，并建立初步阈值，以识别在疾病特异性运动功能结局测量中表现不佳风险较高的个体。
80名2型和3型SMA患者参加了一项国际多中心自然史研究，接受了下肢活动范围测试和扩展版哈默史密斯功能运动量表评估。
2型SMA患者髋关节伸展关节角度为-7.5°或更小，3型SMA患者为0°或更小，可敏感地识别运动能力下降。对于膝关节伸展，2型SMA患者关节角度为-9.0°或更小，3型SMA患者为0°或更小，同样具有敏感性。
最小的髋膝关节挛缩与运动能力下降有关。临床试验设计应考虑挛缩对运动功能的影响。
