1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2013-27-7-3 10.15844/pedneurbriefs-27-7-3 Myopathies Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 2013 15 10 2015 27 7 50 51 Copyright: © 2013 The Author(s) 2013 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Investigators at Guy’s & St Thomas’ Hospital, London, UK, and other centers sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia and identified 9 heterozygous RYR1 mutations in 14 families, 5 of them previously associated with malignant hyperthermia (MH).

 Ryanodine Receptor Gene Malignant Hyperthermia Rhabdomyolysis

Investigators at Guy’s & St Thomas’ Hospital, London, UK, and other centers sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia and identified 9 heterozygous RYR1 mutations in 14 families, 5 of them previously associated with malignant hyperthermia (MH). Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n=12), but no or little associated weakness; CK levels were markedly increased during episodes. Rhabdomyolysis was triggered by exercise and heat, viral infection and drugs. Familial RYR1 mutations were confirmed in relatives. [1]

COMMENT. Patients presenting with unexplained rhabdomyolysis and/or exertional myalgia and other family members should be tested for RYR1 mutations.

Malignant hyperthermia susceptibility of core myopathies. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermia susceptibility during anesthesia. [2]

Dlamini N Voermans NC Lillis S Stewart K Kamsteeg EJ Drost G Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis Neuromuscul Disord 2013 Jul 23 7 540 8 10.1016/j.nmd.2013.03.008 23628358 Brislin RP Theroux MC Core myopathies and malignant hyperthermia susceptibility: a review Paediatr Anaesth 2013 Sep 23 9 834 41 10.1111/pan.12175 23617272