Undergraduate Program in Physiotherapy, Augusto Motta University Center, Rio de Janeiro, Brazil.
Undergraduate Program in Physiotherapy, Augusto Motta University Center, Rio de Janeiro, Brazil; Postgraduate Program in Physical Education, Federal University of Rio De Janeiro, Rio de Janeiro, Brazil; Undergraduate Program in Physical Education, Augusto Motta University Center, Rio de Janeiro, Brazil.
J Bodyw Mov Ther. 2021 Apr;26:72-76. doi: 10.1016/j.jbmt.2020.12.017. Epub 2020 Dec 15.
The Schwartz-Jampel Syndrome (SJS) is a rare genetic disorder characterized by myotonia and bone dysplasia, which may change the posture. The subject of this case report was a seven-year-old boy diagnosed with SJS and presenting generalized muscle and joints contractures. The purpose of the present case report was to identify postural asymmetries in a patient with SJS through photogrammetry. Postural analysis was conducted using photogrammetry with the Postural Assessment Software (SAPO®). Photogrammetry is a postural assessment system performed through photographic images. These images are acquired by camera and transported to the computer. SAPO® software performs the assessment of this photograph throughout 3D analysis and compares with a predefined protocol. The results of the present case report document several recurrent postural imbalances seen in SJS including myotonia, facial dysmorphism, and skeletal deformities. Thus, even with little evidence in the literature, physical therapy treatment is indicated to increase the functionality of the individual.
施瓦茨-詹佩尔综合征(SJS)是一种罕见的遗传性疾病,其特征为肌强直和骨发育不良,可能会改变姿势。本病例报告的主题是一名七岁男孩,被诊断患有 SJS 并表现出全身肌肉和关节挛缩。本病例报告的目的是通过摄影测量术识别 SJS 患者的姿势不对称。使用摄影测量术和姿势评估软件(SAPO®)进行姿势分析。摄影测量术是通过摄影图像进行的姿势评估系统。这些图像由相机获取并传输到计算机。SAPO®软件通过 3D 分析对这张照片进行评估,并与预定义的方案进行比较。本病例报告的结果记录了 SJS 中常见的几种复发性姿势不平衡,包括肌强直、面部畸形和骨骼畸形。因此,即使文献中证据很少,也需要进行物理治疗以提高个体的功能。