Core myopathies and malignant hyperthermia susceptibility: a review. Issue 9 (25th April 2013)

• Record Type: Journal Article
• Authors: Brislin, Robert P.; Theroux, Mary C.; Brandom, Barbara
• Is Part Of: Paediatric anaesthesia. Volume 23:Issue 9(2013)
• Page Start: 834
• Page End: 841
• Publication Date: 2013-04-25
• Subjects: Pediatric anesthesia -- Periodicals; 617.96798
• DOI: 10.1111/pan.12175
• Languages: English
• ISSNs: 1155-5645

Abstract

<abstract abstract-type="main" xml:lang="en" id="pan12175-abs-0001"> <title>Summary</title> <sec id="pan12175-sec-0001" sec-type="section"> <p>The core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (<italic>RYR1</italic>), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermia susceptibility. In this review article, we describe the phenotypical, genetic, and histopathological characteristics of core myopathies and further describe the currently understood nature of their risk of malignant hyperthermia. We also review the level of suspicion a clinician should exhibit with a child who has a possible core myopathy or other congenital myopathy presenting for an anesthetic prior to a definitive genetic analysis. For this review article, we performed literature searches using the key words anesthesiology, core myopathies, pediatric neurology, malignant hyperthermia, genetics, ryanodine receptor, and molecular biology. We also relied on literature accumulated by the two authors, who served as hotline consultants for the Malignant Hyperthermia Hotline of the Malignant Hyperthermia Association of the United States (MHAUS) for the past 12 years.</p> </sec> </abstract>