The first Transthyretin Familial Amyloid Polyneuropathy gait quantification study - preliminary results

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.