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Metabolic myopathy

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https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#1
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922495/toxic-and-endocrine-myopathies
#2
Hans D Katzberg, Charles D Kassardjian
PURPOSE OF REVIEW: This article discusses the clinical features, pathophysiology, and management of toxic and endocrine myopathies. RECENT FINDINGS: Early detection and expeditious correction of metabolic disturbances in endocrinopathies such as Cushing syndrome, thyroid and parathyroid diseases, and acromegaly can minimize and prevent neurologic complications including myopathy. Recently proposed mechanisms of injury in patients with critical illness myopathy include inhibition of protein synthesis, mitochondrial dysfunction, disruption of the ubiquitin-proteasome system, oxidative stress, and disruption of intramuscular calcium homeostasis, which can cause a myosin-loss myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#3
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27906092/alterations-to-mtorc1-signaling-in-the-skeletal-muscle-differentially-affect-whole-body-metabolism
#4
Maitea Guridi, Barbara Kupr, Klaas Romanino, Shuo Lin, Denis Falcetta, Lionel Tintignac, Markus A Rüegg
BACKGROUND: The mammalian target of rapamycin complex 1 (mTORC1) is a central node in a network of signaling pathways controlling cell growth and survival. This multiprotein complex integrates external signals and affects different nutrient pathways in various organs. However, it is not clear how alterations of mTORC1 signaling in skeletal muscle affect whole-body metabolism. RESULTS: We characterized the metabolic phenotype of young and old raptor muscle knock-out (RAmKO) and TSC1 muscle knock-out (TSCmKO) mice, where mTORC1 activity in skeletal muscle is inhibited or constitutively activated, respectively...
March 21, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27894310/monitoring-change-in-volume-of-calcifications-in-juvenile-idiopathic-inflammatory-myopathy-a-pilot-study-using-low-dose-computed-tomography
#5
Maria Ibarra, Cynthia Rigsby, Gabrielle A Morgan, Christina L Sammet, Chiang-Ching Huang, Dong Xu, Ira N Targoff, Lauren M Pachman
BACKGROUND: Dystrophic calcifications may occur in patients with J uvenile Idiopathic Inflammatory Myopathy (JIIM) as well as other connective tissue and metabolic diseases, but a reliable method of measuring the volume of these calcifications has not been established. The purpose of this study is to determine the feasibility of low dose, limited slice, Computed Tomography (CT) to measure objectively in-situ calcification volumes in patients with JIIM over time. METHODS: Ten JIIM patients (eight JDM, two Overlap) with calcifications were prospectively recruited over a 2-year period to undergo two limited, low dose, four-slice CT scans...
November 29, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27859426/muscle-fiber-type-proportion-and-size-is-not-altered-in-mcardle-disease
#6
Franclo Henning, Carol Anne Cunninghame, Miguel Angel Martín, Juan Carlos Rubio, Joaquín Arenas, Alejandro Lucia, Aurelio Hernández-Laín, Tertius Abraham Kohn
INTRODUCTION: McArdle disease is a metabolic myopathy that presents with exercise intolerance and episodic rhabdomyolysis. Excessive muscle recruitment has also been shown to be present during strenuous exercise, suggesting decreased power output. These findings could potentially be explained by either impaired contractility, decreased fiber size, or altered fiber type proportion. However, there is a paucity of data on the morphological features seen on muscle histology. METHODS: We examined muscle biopsies of patients with McArdle disease from a Spanish cohort, and compared the findings to healthy controls...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27857512/respiratory-manifestations-in-endocrine-diseases
#7
REVIEW
Codruţa Lencu, Teodora Alexescu, Mirela Petrulea, Monica Lencu
The control mechanisms of respiration as a vital function are complex: voluntary - cortical, and involuntary - metabolic, neural, emotional and endocrine. Hormones and hypothalamic neuropeptides (that act as neurotrasmitters and neuromodulators in the central nervous system) play a role in the regulation of respiration and in bronchopulmonary morphology. This article presents respiratory manifestations in adult endocrine diseases that evolve with hormone deficit or hypersecretion. In hyperthyroidism, patients develop ventilation disorders, obstructive and central sleep apnea, and pleural collection...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27808419/characteristics-and-significance-of-doublets-on-needle-emg
#8
Christopher J Lamb, Devon I Rubin
INTRODUCTION: Voluntary doublets are electrophysiological phenomena thought to be associated with metabolic derangements or neuromuscular conditions. METHODS: We prospectively studied 232 consecutive patients examined by a single examiner during routine electromyography (EMG) to determine the frequency of doublets in individual patients, specific muscles, neuromuscular conditions, electrolyte levels, and doublet characteristics. RESULTS: Of 232 patients, 25 (10...
November 3, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27757045/pharmacogenomics-of-statins-understanding-susceptibility-to-adverse-effects
#9
Joseph P Kitzmiller, Eduard B Mikulik, Anees M Dauki, Chandrama Murkherjee, Jasmine A Luzum
Statins are a cornerstone of the pharmacologic treatment and prevention of atherosclerotic cardiovascular disease. Atherosclerotic disease is a predominant cause of mortality and morbidity worldwide. Statins are among the most commonly prescribed classes of medications, and their prescribing indications and target patient populations have been significantly expanded in the official guidelines recently published by the American and European expert panels. Adverse effects of statin pharmacotherapy, however, result in significant cost and morbidity and can lead to nonadherence and discontinuation of therapy...
2016: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/27734117/igf-1-prevents-simvastatin-induced-myotoxicity-in-c2c12-myotubes
#10
Annalisa Bonifacio, Gerda M Sanvee, Karin Brecht, Denise V Kratschmar, Alex Odermatt, Jamal Bouitbir, Stephan Krähenbühl
Statins are generally well tolerated, but treatment with these drugs may be associated with myopathy. The mechanisms of statin-associated myopathy are not completely understood. Statins inhibit AKT phosphorylation by an unclear mechanism, whereas insulin-like growth factor (IGF-1) activates the IGF-1/AKT signaling pathway and promotes muscle growth. The aims of the study were to investigate mechanisms of impaired AKT phosphorylation by simvastatin and to assess effects of IGF-1 on simvastatin-induced myotoxicity in C2C12 myotubes...
October 12, 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/27716084/quinine-induced-simvastatin-toxicity-through-cytochrome-inhibition-a-case-report
#11
Johannes M Just, Klaus Weckbecker, Katja S Just
BACKGROUND: Nocturnal leg cramps are painful, involuntary muscle contractions commonly seen in elderly. While mostly harmless, they can severely impair quality of life and often disrupt sleep. Adverse drug effects may be responsible for a fraction of nocturnal leg cramps but often go unrecognized, resulting in additional prescribing intended to deal with adverse effects that might be better addressed by reduction, substitution, or discontinuation of the offending agent. CASE PRESENTATION: An 87 year old female presented as outpatient in family medicine with nocturnal leg cramps which had been present for five years and increasingly burdened her quality of life...
October 1, 2016: BMC Geriatrics
https://www.readbyqxmd.com/read/27697125/-myopathy-in-a-patient-during-simvastatin-and-fluconazole-treatment
#12
Jens Kristian Pedersen, Magnus Christian Lydolph, Finn Somnier, Peter Junker
A 69-year-old female was admitted due to progressive loss of muscle strength following addition of fluconazole to long-term simvastatin treatment. Rhabdomyolysis was suspected and both drugs were discontinued. Forced diuresis was initiated together with a short course of prednisolone. After 21 weeks the patient had regained normal muscle strength and endurance. The favourable course and the absence of antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase suggest that the condition was due to interaction between the two drugs, which are both metabolized via the CYP3A4 pathway...
September 26, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27693032/an-endovascular-model-of-ischemic-myopathy-from-peripheral-arterial-disease
#13
Chandler A Long, Lucas H Timmins, Panagiotis Koutakis, Traci T Goodchild, David J Lefer, Iraklis I Pipinos, George P Casale, Luke P Brewster
OBJECTIVE: Peripheral arterial disease (PAD) is a significant age-related medical condition with limited pharmacologic options. Severe PAD, termed critical limb ischemia, can lead to amputation. Skeletal muscle is the end organ most affected by PAD, leading to ischemic myopathy and debility of the patient. Currently, there are not any therapeutics to treat ischemic myopathy, and proposed biologic agents have not been optimized owing to a lack of preclinical models of PAD. Because a large animal model of ischemic myopathy may be useful in defining the optimal dosing and delivery regimens, the objective was to create and to characterize a swine model of ischemic myopathy that mimics patients with severe PAD...
September 29, 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27687952/clinical-histopathological-and-metabolic-responses-following-exercise-in-arabian-horses-with-a-history-of-exertional-rhabdomyolysis
#14
E C McKenzie, L V Eyrich, M E Payton, S J Valberg
A previous report suggests a substantial incidence of exertional rhabdomyolysis (ER) in Arabian horses performing endurance racing. This study compared formalin histopathology and clinical and metabolic responses to a standardised field exercise test (SET) between Arabians with and without ER. Arabian horses with (n = 10; age 15.4 ± 5.6 years) and without (n = 9; 12.9 ± 6.1 years) prior ER were stall-rested for 24-48 h, after which paired ER and control horses were fitted with a telemetric ECG and performed a 47 min submaximal SET...
October 2016: Veterinary Journal
https://www.readbyqxmd.com/read/27687939/equine-atypical-myopathy-a-metabolic-study
#15
R Karlíková, J Široká, P Jahn, D Friedecký, A Gardlo, H Janečková, F Hrdinová, Z Drábková, T Adam
Atypical myopathy (AM) is a potentially fatal disease of grazing horses. It is reportedly caused by the ingestion of sycamore seeds containing toxic hypoglycin A. In order to study metabolic changes, serum and urine samples from nine horses with atypical myopathy and 12 control samples from clinically healthy horses were collected and then analysed using a high-performance liquid chromatography coupled with tandem mass spectrometry; serum metabolic profiles as the disease progressed were also studied. Metabolic data were evaluated using unsupervised and supervised multivariate analyses...
October 2016: Veterinary Journal
https://www.readbyqxmd.com/read/27663059/exercise-training-in-metabolic-myopathies
#16
REVIEW
J Vissing
Metabolic myopathies encompass muscle glycogenoses (GSD) and disorders of muscle fat oxidation (FAOD). FAODs and GSDs can be divided into two main clinical phenotypes; those with static symptoms related to fixed muscle weakness and atrophy, and those with dynamic, exercise-related symptoms that are brought about by a deficient supply of ATP. Together with mitochondrial myopathies, metabolic myopathies are unique among muscle diseases, as the limitation in exercise performance is not solely caused by structural damage of muscle, but also or exclusively related to energy deficiency...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27645494/severity-of-statin-induced-adverse-effects-on-muscle-and-associated-conditions-data-from-the-dama-study
#17
Juan Pedro-Botet, Jesús Millán Núñez-Cortés, Juan J Chillarón, Juana A Flores-Le Roux, Joan Rius
BACKGROUND: Statins are generally well tolerated, but muscular adverse effects appear to be the most common obstacle limiting their use. Our objective was to describe the severity of muscle injury (myalgia, myositis and rhabdomyolysis) and associated conditions related to statin therapy that may be clinically significant. METHODS: A cross-sectional one-visit, non-interventional, national multicenter study including patients of both sexes over 18 years of age referred for past or present muscle symptoms associated with statin therapy was conducted...
October 24, 2016: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/27634340/statin-associated-myopathy-and-the-quest-for-biomarkers-can-we-effectively-predict-statin-associated-muscle-symptoms
#18
Danina M Muntean, Paul D Thompson, Alberico L Catapano, Mariusz Stasiolek, Jaroslaw Fabis, Paul Muntner, Maria-Corina Serban, Maciej Banach
Over the past three decades, statins have become the cornerstone of prevention and treatment of atherosclerotic cardiovascular and metabolic diseases. Albeit generally well tolerated, these drugs can elicit a variety of muscle-associated symptoms that represent the most important reason for treatment discontinuation. Statin-associated myopathy has been systematically underestimated by randomized controlled trials as compared with the incidence observed in clinical practice and obtained from patient registries...
September 12, 2016: Drug Discovery Today
https://www.readbyqxmd.com/read/27631878/mitochondrial-chchd-containing-proteins-physiologic-functions-and-link-with-neurodegenerative-diseases
#19
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27612597/phosphoglycerate-mutase-deficiency-glycogen-storage-disease-x-caused-by-a-novel-variant-in-pgam-m
#20
Benjamin Koo, Bjorn Oskarsson
Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. Six different autosomal recessive variants in PGAM-M have been described thus far (Salameh et al., 2013). In this case report, we report a novel disease-causing variant. A 52-year-old African-American woman presented with exertional muscle contractures, myalgias, and weakness since childhood including an episode of rhabdomyolysis...
October 2016: Neuromuscular Disorders: NMD
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