The anaesthetic management of a patient with Emery-Dreifuss muscular dystrophy

Abstract

Emery-Dreifuss Muscular Dystrophy (EDMD) is the third most common of the X-linked recessive muscular dystrophies. It is characterized by early contractures, muscle weakness in a humeroperoneal distribution, and

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation

“…Explicit recommendations or even guidelines concerning the anaesthetic practice for patients with EDMD are not available. While spinal or epidural anaesthesia were applied without any difficulty for orthopaedic surgery [10–12] and caesarean sections [13, 14], only two cases of uneventful general anaesthesia in EDMD patients using enflurane and succinylcholine [11], or TIVA [15] were described. In contrast to Duchenne and Becker muscular dystrophy, caused by a mutation of the muscle-stabilizing protein dystrophin, EDMD is associated with an aberration of the inner nuclear membrane proteins emerin or lamin A/C.…”

Elective Caesarean Section for a Woman with Emery-Dreifuss Muscular Dystrophy

“…Although a regional technique proved successful in this case, the possibility of a general anaesthetic, with or without postoperative ventilation, should always be considered for either an emergency situation or failed regional anaesthesia. The possibility of difficult tracheal intubation due to limited neck movement and unproven susceptibility to malignant hyperthermia 16 were considered in our patient and a technique avoiding volatile agents and suxamethonium or other neuromuscular blocking drugs was planned, using propofol and remifentanil for induction and propofol for maintenance of anaesthesia. A difficult intubation trolley with an intubating bronchoscope would have been prepared if general anaesthesia had been required.…”

The risk of malignant hyperthermia in children undergoing muscle biopsy for suspected neuromuscular disorder

“…It remains unclear, however, whether an association exists between MH and dystrophies such as DMD, channelopathies other than central core disease, and any or all of the mitochondrial disorders (9). There is a substantial body of literature consisting primarily of case reports and small series suggesting an increased risk of MH in patients with NMD (10–13). However, no large study has, as yet, examined the question.…”