GNE myopathy is a rare, predominantly distal myopathy, involving mainly the lower limbs and presenting with gait disturbances. In this cross-sectional study gait evaluation of 23 (14 men) genetically confirmed GNE myopathy patients was done using Instrumented walkway analysis (GAITRite®) along with video gait capture. We recorded the topographical pattern of muscles involvement in lower limbs and correlated Functional Ambulation Profile-FAP and Medical Research council-MRC grading of lower limb scores with duration of illness. Early foot flat, foot drop gait with wider out-toed stance and higher perturbations with increased pressure at heel and decreased arm swing were noted. Muscle topography showed predominant weakness in ankle dorsi-flexors, flexor hallucis longus, extensor hallucis longus, hip adductors and knee flexors with stark sparing of quadriceps and relative sparing of hip- abductors, extensors, flexors and ankle plantar-flexors. Gait parameters in women were significantly more affected than men (p < 0.05) for the same duration of illness. FAP score and MRC grading of lower limb scores correlated significantly with duration of illness (p < 0.05). We observed that ankle dorsiflexors were affected earliest with sparing of quadriceps muscles in these patients.

中文翻译：

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GNE肌病-时空步态特征的横断面研究

GNE 肌病是一种罕见的、主要为远端肌病，主要累及下肢并表现为步态障碍。在这项横断面研究中，使用仪器走道分析 (GAITRite®) 和视频步态捕获对 23 名（14 名男性）基因确诊的 GNE 肌病患者进行了步态评估。我们记录了下肢肌肉受累的地形模式，以及相关的功能活动特征-FAP 和医学研究委员会-MRC 对下肢评分与疾病持续时间的分级。注意到早期足部扁平、足下垂步态，外展姿势更宽，脚后跟压力增加，手臂摆动减少，扰动程度更高。肌肉形态显示踝背屈肌、拇长屈肌、拇长伸肌、髋内收肌和膝屈肌，股四头肌明显保留，髋外展肌、伸肌、屈肌和踝跖屈肌相对保留。在相同的病程中，女性的步态参数受到的影响明显大于男性（p < 0.05）。FAP 评分和下肢评分的 MRC 分级与疾病持续时间显着相关 (p < 0.05)。我们观察到，在这些患者中，由于保留了股四头肌，踝背屈肌最早受到影响。