Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist?

Abstract

The increased understanding of the genetics and pathophysiology of common muscle disorders may lead to a decrease in life-threatening complications related to surgery and anaesthesia. However, there is still a lack of prospective clinical studies to determine which is the safest anaesthetic technique for these patients.

Functional Properties of RYR1 Mutations Identified in Swedish Patients with Malignant Hyperthermia and Central Core Disease

“…Patient 1 (p.Glu1058Lys) has a certain suspicion of muscular disease (see Appendix 1) but despite large investigations a definitive diagnosis has not been found. Patients with myotonic muscle disease can react especially to suxamethone (23) and thus one could argue the reaction she experienced was not true malignant hyperthermia. However the clinical reaction scores high on the larach scale and had symptoms that are not first line in myotonic patients reacting to suxamethone and inhalational anesthetics.…”

Succinylcholine-induced Hyperkalemia in a Patient with Multiple Sclerosis

“…Succinylcholine-induced hyperkalemia has been described with a variety of conditions, including upper motor nerve injuries (e.g., spinal cord injury), lower motor nerve injuries (e.g., Guillain-Barré syndrome), prolonged chemical denervation, disuse atrophy, direct muscle trauma or inflammation, muscular dystrophies, burns, and sepsis (4)(5)(6)(7)(10)(11)(12)(13)15). Upregulation of the nicotinic-acetylcholine receptor on skeletal muscle seems to be the primary cause of the hyperkalemia (15).…”

“…Succinylcholine, a depolarizing neuromuscular blocking agent, has long been the preferred paralytic for use in RSI (2,3). Most of the contraindications to succinylcholine utilization relate to the potential to induce hyperkalemia, which can occur as a result of receptor upregulation in advanced neuromuscular disorders, including spinal cord injury and muscular dystrophy (3)(4)(5)(6)(7). Multiple sclerosis is a debilitating, immune-mediated disease characterized by demyelination, axonal damage, and ultimately, scar formation in the central nervous system (8,9).…”

A Case of Mitochondrial Myopathy with Cardiac Involvement: Management in the Same Day Surgery Setting

“…There is very limited evidence-based data in the literature on which to determine the most appropriate anesthetic management for such patients [10]. Review of literature does not indicate an increased susceptibility to MH by patients diagnosed with mitochondrial myopathy [11,12]. It is best to avoid depolarizing muscle relaxants, although these have been used safely in many patients with mitochondrial diseases [13].…”