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myopathies review

Paul Rosenberg, Danielle Katz, Victoria Bryson
Store operated Ca2+ entry (SOCE) is an ancient and ubiquitous Ca2+ signaling pathway discovered decades ago, but the function of SOCE in human physiology is only now being revealed. The relevance of this pathway to striated muscle was solidified with the description of skeletal myopathies that result from mutations in STIM1 and Orai1, the two SOCE components. Here, we consider the evidence for STIM1 and SOCE in cardiac muscle and the sinoatrial node. We highlight recent studies revealing a role for STIM1 in cardiac growth in response to developmental and pathologic cues...
November 27, 2018: Cell Calcium
Sherifa A Hamed
Uremic syndrome of chronic kidney disease (CKD) is a term used to describe clinical, metabolic and hormonal abnormalities associated with progressive kidney failure. It is a rapidly growing public health problem worldwide. Nervous system complications occur in every patient with uremic syndrome of CKD. Areas covered: This review summarized central and peripheral nervous system complications of uremic syndrome of CKD and their pathogenic mechanisms. They include cognitive deterioration, encephalopathy, seizures, asterixis, myoclonus, restless leg syndrome, central pontine myelinosis, stroke, extrapyramidal movement disorders, neuropathies and myopathy...
December 2, 2018: Expert Review of Clinical Pharmacology
Matthew J S Parker, Alexander Oldroyd, Mark E Roberts, James B Lilleker, Zoe E Betteridge, Neil J McHugh, Ariane L Herrick, Robert G Cooper, Hector Chinoy
Objectives: To assess the performance of the EULAR/ACR idiopathic inflammatory myopathies (IIMs) classification criteria in a cohort of incident IIM cases and examine how criteria-assigned IIM subtype correlates with expert opinion. Methods: Adults with newly diagnosed IIM attending Salford Royal NHS Foundation Trust were identified over a 10 year period. A retrospective review of all putative cases was performed and those fulfilling a consensus expert opinion diagnosis of IIM were included...
November 28, 2018: Rheumatology
Xuan Guo, Zhe Zhao, Hongrui Shen, Bing Qi, Nan Li, Jing Hu
INTRODUCTION: Valosin-containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb-girdle weakness, distal weakness and scapuloperoneal weakness. METHODS: We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy. RESULTS: Clinical features of family members were complex and included dementia, myopathy and hearing impairment...
November 29, 2018: Muscle & Nerve
Yitian Zheng, Binhao Shi, Mengqing Ma, Xiaoqin Wu, Xianhe Lin
Class III histone deacetylases (HDACs) belong to the proteasome family, comprising seven family members identified in mammalian cells, identified Sirt1-Sirt7. As an important member of HDACs, Sirt3 is hotly debated for its multiple functions. It was reported that Sirt3 got involved in the alleviation of multiple diseases, including myocardial infarction, neuron ischemia, hypertrophy, and diabetic myopathy. Through regulating many cellular mechanisms, such as apoptosis, autophagy, and clearance of reactive oxygen species (ROS), Sirt3 played an important role in the alleviation of myocardial ischemia-reperfusion injury...
November 28, 2018: Journal of Cellular Physiology
Shipeng Zhan, Min Tang, Fang Liu, Peiyuan Xia, Maoqin Shu, Xiaojiao Wu
BACKGROUND: Cardiovascular disease (CVD) remains an important cause of mortality and morbidity, and high levels of blood cholesterol are thought to be the major modifiable risk factors for CVD. The use of statins is the preferred treatment strategy for the prevention of CVD, but some people at high-risk for CVD are intolerant to statin therapy or unable to achieve their treatment goals with the maximal recommended doses of statin. Ezetimibe is a selective cholesterol absorption inhibitor, whether it has a positive effect on CVD events remains uncertain...
November 19, 2018: Cochrane Database of Systematic Reviews
Xi Huang, Dong Uk Ahn
The dramatic improvements in the growth rate and breast muscle size and yield in broilers through the intensive genetic selection, and the improvement in nutrition and management over the past 50 years have introduced serious abnormalities that influenced the quality of breast meat. The abnormalities include pale-soft-exudative (PSE) conditions, deep pectoral muscle (DPM) myopathy, spaghetti meat (SM), white striping (WS), and woody breast (WB) that have serious negative implications to the broiler meat industry...
October 2018: Korean Journal for Food Science of Animal Resources
Josef Finsterer
Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle fiber energetics. Diagnosing metabolic myopathies requires a thoroughly taken individual and family history, a meticulous neurologic exam, exercise tests, blood and urine tests, needle-electromyography, nerve-conduction studies, muscle biopsy, targeted genetic tests, or next-generation sequencing. There is limited evidence from the literature to guide treatment of metabolic myopathies...
December 2018: Expert Review of Neurotherapeutics
Sophia L Ryan, Shamik Bhattacharyya
Connective tissue disorders are now understood to include autoimmune and genetic diseases affecting organs, blood vessels, and surrounding fascia. Many of these diseases predominantly affect women in childbearing years and are associated with neurologic complications. Pregnancy can affect disease activity (such as flares of systemic lupus erythematosus), and the diseases can affect pregnancy outcome (such as increased risk of preterm labor). We review the neurologic complications and changes with pregnancy for systemic lupus erythematosus, Sjögren syndrome, idiopathic inflammatory myopathy, and Marfan syndrome...
February 2019: Neurologic Clinics
Marion Best, Nicolas Molinari, François Chasset, Thierry Vincent, Nadège Cordel, Didier Bessis
Anti-transcriptional intermediary factor-1γ (TIF-1γ) autoantibody may be associated with cancer in adult patients with dermatomyositis. The aim of this study was to evaluate the risk of cancer in the presence of anti-TIF-1γ autoantibody in adult dermatomyositis. A comprehensive database search of EMBASE, MEDLINE and the Cochrane Library up to May 2018 was performed using the main key words "dermatomyositis", "myositis", "inflammatory myopathies" and "anti-TIF-1". Eighteen studies, with a total of 1,962 dermatomyositis, were included in the meta-analysis...
November 21, 2018: Acta Dermato-venereologica
Shamima Rahman, William C Copeland
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDNA deletions. POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying these mutations. POLG-related disorders comprise a continuum of overlapping phenotypes with onset from infancy to late adulthood...
November 19, 2018: Nature Reviews. Neurology
Colin G Steward, Sarah J Groves, Carolyn T Taylor, Melissa K Maisenbacher, Birgitta Versluys, Ruth A Newbury-Ecob, Hulya Ozsahin, Michaela K Damin, Valerie M Bowen, Katherine R McCurdy, Michael C Mackey, Audrey A Bolyard, David C Dale
PURPOSE OF REVIEW: Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes. Major features include neutropenia, dilated cardiomyopathy, motor delay and proximal myopathy, feeding problems, and constitutional growth delay. We conducted this review of neutropenia in BTHS to aid in the diagnosis of this disease, and to improve understanding of both the consequences of neutropenia and the benefits of treatment with granulocyte colony-stimulating factor (G-CSF)...
January 2019: Current Opinion in Hematology
Eloisa Arbustini, Alessandro Di Toro, Lorenzo Giuliani, Valentina Favalli, Nupoor Narula, Maurizia Grasso
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies...
November 13, 2018: Journal of the American College of Cardiology
Jean K Mah, Nens van Alfen
Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. It can also guide needle placement for electromyography exam, therapeutic injections, and muscle biopsy...
November 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Mo Zhao, Nika Maani, James J Dowling
Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM and CMT mutations may affect DNM2 in distinct manners: CNM mutations may cause protein hyperactivity with elevated GTPase and fission activities, while CMT mutations could impair DNM2 lipid binding and activity...
November 13, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Tokunbor A Lawal, Joshua J Todd, Katherine G Meilleur
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. A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabdomyolysis-myalgia syndrome, atypical periodic paralysis, congenital neuromuscular disease with uniform type 1 fibers, and late-onset axial myopathy...
November 7, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Chunyu Cai, Douglas C Anthony, Peter Pytel
The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations...
November 6, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Guillermo Avila
Ca2+ is essential for proper structure and function of skeletal muscle. It not only activates contraction and force development but also participates in multiple signaling pathways. Low levels of Ca2+ restrain muscle regeneration by limiting the fusion of satellite cells. Ironically, sustained elevations of Ca2+ also result in muscle degeneration as this ion promotes high rates of protein breakdown. Moreover, transforming growth factors (TGFs) which are well known for controlling muscle growth also regulate Ca2+ channels...
2018: Advances in Experimental Medicine and Biology
Yang Chen, Jianying Xi, Wenhua Zhu, Jie Lin, Sushan Luo, Dongyue Yue, Shuang Cai, Chong Sun, Chongbo Zhao, Satomi Mitsuhashi, Ichizo Nishino, Minjie Xu, Jiahong Lu
GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles of 46 GNE patients. The clinical and mutational profile of 54 previously reported Chinese patients were also reviewed. A total of 21 novel mutations, including a gross deletion spanning exon 1-2 and a retrotransposon insertion were found in our cohort, enlarging the spectrum of GNE mutations...
November 2, 2018: Journal of Human Genetics
Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri, Andrea Artoni, Claudia M Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Maurizio Moggio, Nereo Bresolin, Giacomo P Comi, Stefania Corti
Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome...
2018: Frontiers in Neurology
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