Study of Autonomic Nervous System Problems in Adults with Charcot-Marie-Tooth Disease Ages 18 to 65

What this Trial Is About

Hereditary neuropathies are a diverse group of disorders that include Charcot-Marie-Tooth disease CMT, which has different types such as CMT1 and CMT2. This research aims to study autonomic nervous system problems in people with CMT, which can affect daily life and quality of life. The study will assess how common and severe these autonomic issues are, and whether they differ among CMT subtypes, helping to better understand and care for patients with CMT. Participants include adults diagnosed with CMT and healthy age-matched controls. The study involves using questionnaires and non-invasive tests to evaluate autonomic dysfunction. Patient histories will be reviewed for diagnosis details, genetic confirmation, disease duration, neurological impairment, and other health conditions. Measurements such as muscle strength, nerve studies, and nerve ultrasound will be collected during visits. Participants will have baseline assessments including the COMPASS 31 questionnaire and electrophysiological tests. Additional evaluations like neurography and nerve sonography will be done to understand nerve function. The study aims to gather detailed data on autonomic and neurological function to identify risk factors and differences between CMT types. The total participation duration and follow-up details are based on study visits, with all participants consenting to join.

AUTONOMOUS DISORDERS IN CMT