Charcot-Marie-Tooth Disease

Abstract

Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease and presents many potential considerations for the administration of anesthesia. Type 1 CMT (CMT1) is the most common, of which 70% of cases are CMT1A. Key characteristics of all types are genetic heterogeneity, age-dependent penetrance, and variable expressivity. The most common type, CMT1A, is inherited in an autosomal dominant (AD) pattern and results from a duplication of chromosome 17, resulting in excess gene expression and overproduction of peripheral myelin protein 22 (PMP22). Diagnosis largely depends on a thorough history and physical examination, nerve conduction studies, and genetic analysis. CMT is a lifelong disease, and treatment is mainly supportive, focusing on symptom management. Anesthetic considerations include the possibility for cardiac conduction anomalies, cardiomyopathy, and impaired pulmonary function. CMT disease is a condition of chronic denervation, which prompts concerns for the use of succinylcholine and triggering agents for malignant hyperthermia (MH). All types of anesthesia have been performed successfully and safely in patients with CMT disease, and the anesthetic should be tailored to the individual needs of the patient.