Syndrome caused by partial chromosomal duplication

This study will use wearable activity trackers to measure how much people with Charcot-Marie-Tooth disease type 1A (CMT1A) move at home. Researchers want to see if sensor data matches standard clinical tests. The goal is to improve patient follow-up and support future trials of n…

This study will follow 15 people aged 5 to 50 with 7q11.23 microduplication syndrome, a rare genetic condition linked to autism and social difficulties. Researchers will track developmental milestones, social skills, and behavior using interviews and questionnaires. The goal is t…

This pilot study looks at fatigue in people with Charcot-Marie-Tooth type 1A (CMT1A), a nerve disorder affecting arms and legs. Researchers will compare 22 patients with 22 healthy volunteers to measure how fatigue affects walking and balance. They use tests like muscle strength …