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Pancreatitis in RYR1-related disorders.
Neuromuscul Disord
October 2023
Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, United Kingdom. Electronic address:
Article Synopsis
- - Mutations in the RYR1 gene, which is responsible for the ryanodine receptor in skeletal muscle, are linked to several inherited neuromuscular disorders, but non-skeletal muscle symptoms are rarely reported.
- - This study presents three patients with Central Core Disease, King-Denborough Syndrome, and Malignant Hyperthermia Susceptibility, who also experienced acute pancreatitis, indicating a potential connection between RYR1 mutations and pancreatic issues.
- - The findings suggest that individuals with specific RYR1 mutations may be more prone to acute pancreatitis; hence, monitoring for this condition should be part of their medical care strategy.
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
Am J Med Genet A
June 2023
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.
Ryanodine receptor type 1-related disorder (RYR1-RD) is the most common subgroup of congenital myopathies with a wide phenotypic spectrum ranging from mild hypotonia to lethal fetal akinesia. Genetic testing for myopathies is imperative as the diagnosis informs counseling regarding prognosis and recurrence risk, treatment options, monitoring, and clinical management. However, diagnostic challenges exist as current options are limited to clinical suspicion prompting testing including: single gene sequencing or familial variant testing, multi-gene panels, exome, genome sequencing, and invasive testing including muscle biopsy.
View Article and Find Full Text PDFRyanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Skelet Muscle
November 2020
Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically heterogeneous, and slowly progressive neuromuscular disorders. RYR1 variants can lead to dysfunctional RyR1-mediated calcium release, malignant hyperthermia susceptibility, elevated oxidative stress, deleterious post-translational modifications, and decreased RyR1 expression.
View Article and Find Full Text PDFMalignant Hyperthermia.
Mo Med
August 2019
Harleen Kaur, MBBS, Nakul Katyal, MD, Anudeep Yelam, MBBS, Keerthana Kumar, MBBS, and Raghav Govindarajan, MD, MSMA member since 2013, are in the Department of Neurology, University of Missouri School of Medicine.
Malignant Hyperthermia (MH) is a life-threatening pharmacogenetic disorder which results from exposure to volatile anesthetic agents and depolarizing muscle relaxants. It manifests as a hypermetabolic response resulting in tachycardia, tachypnea, hyperthermia, hypercapnia, acidosis, muscle rigidity and rhabdomyolysis. An increase in the end-tidal carbon dioxide is one of the earliest diagnostic signs.
View Article and Find Full Text PDFRyanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Neurotherapeutics
October 2018
Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of congenital myopathies. Historically, RYR1-RM classification and diagnosis have been guided by histopathologic findings on muscle biopsy. Main histological subtypes of RYR1-RM include central core disease, multiminicore disease, core-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.
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