Maria do Carmo Vilas-Boas
Prof. João Paulo Cunha (INESC-TEC) e Drª. Teresa Coelho (CHP).
FAPMOVE – Motor impairment assessment in Familial Amyloid Polyneuropathy
Familial Amyloid Polyneuropathy (FAP) is a rare neurologic disease caused by an autosomal dominant genetic utation that specially affects the peripheral nervous system. It is a highly disabling multisystemic disorder with variable onset and penetrance worldwide. In Portugal, the largest known affected population, transthyretin (TTR) FAP is the most common type of FAP and it is typically characterized by a nerve length-dependent symmetric polyneuropathy that starts in the feet with loss of temperature and pain sensations and is associated to life-threatening autonomic dysfunction, leading to cachexia and death within 10 years, on average. The motor disorder progresses from difficulty ambulating until the need for walking assistance, wheelchair and total motor disability in latter stages. The gait pattern of TTR-FAP patients is described as similar to the gait pattern of other motor neuropathies, and characterized by steppage (pendent feet and bent knee), but it has never been quantified. This doctoral degree pursuing project aims at describing and quantifying the motor impairment of this population, focusing on gait. The characterization of inter and intra-individual parameters and development of a tool to support earlier clinical diagnose are among the major goals of the project.