Axonal Excitability and Ultrasound Patterns in Charcot-Marie-Tooth Disease and Other Demyelinating Disorders

What this Trial Is About

Researchers are investigating nerve function and structure in patients with Charcot-Marie-Tooth disease (CMT) and certain acquired neuropathies, including chronic inflammatory demyelinating polyneuropathy (CIDP) and anti-MAG neuropathy. The study aims to compare conventional nerve conduction studies and axonal excitability assessments using the TRONDF protocol, along with analyzing nerve fibers from skin biopsies and performing ultrasound evaluations of nerves and intrinsic hand muscles. This research hopes to better distinguish different neuropathy types and understand disease mechanisms. The study involves several assessments: conventional nerve conduction tests, axonal excitability techniques delivering electrical stimuli to nerves, skin biopsies in some patients to examine myelinated nerve fibers, and ultrasound imaging of nerves and hand muscles. These methods are used to analyze nerve function, structure, and muscle characteristics. The study includes patients with various types of CMT and compares them to patients with CIDP and anti-MAG neuropathy, as well as corresponding mouse models. Participants will undergo nerve conduction and excitability tests, skin biopsies if applicable, and ultrasound scans over a two-year period. Researchers will measure nerve excitability parameters such as strength-duration time constant, recovery cycle, threshold electrotonus, and current-threshold relationship. Ultrasound will assess peripheral nerve size, muscle thickness, and echogenicity. The study will correlate these measurements with clinical and electrophysiological data to improve diagnosis and monitoring of these neuropathies.

Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP