Maintaining dynamic balance (the ability to balance while the body is moving) is essential in ensuring the body remains upright against gravity. Impaired balance significantly contributes to the loss of ability to walk in people with Friedreich ataxia. Balance continues to worsen after a person can no longer walk, impacting on the performance of daily activities that depend on stability in sitting. Truncal control (core stability) is the ability of the trunk (ribs, chest, spine and pelvis) to orientate and stabilize up against gravity and is a major contributor to maintaining balance. We currently do not have a measure of dynamic balance, nor a sensitive measure of truncal control in people who cannot walk. The overall goal of this study is to address this gap by developing an accurate assessment of disease progression related to truncal control and dynamic balance in people with FA who are either still able or unable to walk. To achieve this goal, this research project has two separate, but connected, studies.
Study 1 aims to understand the activities related to sitting and dynamic balance that are challenging for people with FA who are no longer able to walk. Dr Milne and team will determine the chronological loss of function over time linked to key activities related to disease progression. This will be done through interviews with people with FA to understand their experiences.
Study 2 aims to understand what impairments (such as strength and coordination) contribute to decline in walking ability and sitting balance in people with FA and determine a sensitive dynamic balance assessment (or combination of assessments) of standing and sitting. With this information, Dr Milne and team will develop a wearable computerized system comprising four wireless movement sensors to measure dynamic balance and trunk movement during tasks requiring dynamic balance. Participants will be asked to wear movement sensors for a two-hour period while performing activities which are challenging but important for people with FA and who cannot walk. Examples of potential activities include reaching to pick up an object off the floor or getting on and off a toilet.
The anticipated outcome of this research will be the identification of an instrumented test of trunk movement and dynamic balance that will accurately and sensitively detect decline in people with FA across the whole spectrum of disease severity. This is a critical step that will allow the inclusion of people with FA in clinical trials regardless of their capacity to walk, improving accuracy of assessment and increasing the pool of subjects eligible for such trials.