Gait abnormalities in tuberous sclerosis complex: a clinical and neurophysiologic study

Tuberous sclerosis complex (TSC) is a genetic condition that affects various organs and tissues in the body, causing growths called hamartomas. The most serious problems usually involve the central nervous system and can lead to significant health issues. While we know that TSC can also affect muscles and bones, we haven't fully understood how. Some patients with TSC experience difficulties with walking and balance, even though there might not be obvious signs of brain problems causing these issues. These difficulties tend to get worse over time and can eventually lead to falls and the need for a wheelchair.

Our main goal is to better understand these walking difficulties by studying the way patients with TSC walk. We'll do this by analyzing their walking patterns in a group of young TSC patients. For those who have trouble walking, we'll also do tests to study how their nerves and muscles are working. We'll then look at all the information we gather, including details about each patient and their medical history, to see if there are any connections between walking problems and things like intellectual disability, behavioral symptoms (especially autism spectrum disorder), how their senses work, and the medications they're taking.