Do Carmo Vilas-Boas Maria, Rocha Ana Patricia, Pereira Choupina Hugo Miguel, Fernandes Jose Maria, Coelho Teresa, Silva Cunha Joao Paulo
Annu Int Conf IEEE Eng Med Biol Soc. 2017 Jul;2017:1368-1371. doi: 10.1109/EMBC.2017.8037087.
Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a rare neurological disease caused by a genetic mutation with a variable presentation and consequent challenging diagnosis, complex follow-up and treatment. At this moment, this condition has no cure and treatment options are under development. One of the disease's implications is a definite and progressive motor impairment that from the early stages compromises walking ability and daily life activities. The detection of this impairment is key for the disease onset diagnosis. With the goal of improving diagnosis of the symptoms and patients' quality of life, the authors have assessed the gait characteristics of subjects suffering from this condition. This contribution shows the results of a preliminary study, using a non-intrusive, markerless vision-based gait analysis tool. To the best of our knowledge, the reported results constitute the first gait analysis data of TTR-FAP mutation carriers.
转甲状腺素蛋白家族性淀粉样多神经病（TTR-FAP）是一种由基因突变引起的罕见神经系统疾病，其表现多样，因此诊断具有挑战性，随访和治疗也很复杂。目前，这种疾病无法治愈，治疗方案正在研发中。该疾病的一个影响是明确且进行性的运动功能障碍，从早期就会影响行走能力和日常生活活动。检测这种功能障碍是疾病发病诊断的关键。为了改善症状诊断和患者生活质量，作者评估了患有这种疾病的受试者的步态特征。本研究成果展示了一项初步研究的结果，该研究使用了一种基于视觉的非侵入性无标记步态分析工具。据我们所知，所报告的结果构成了TTR-FAP突变携带者的首批步态分析数据。
