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Alcohol Research : Current Reviews 2017Skeletal muscle dysfunction (i.e., myopathy) is common in patients with alcohol use disorder. However, few clinical studies have elucidated the significance, mechanisms,... (Review)
Review
Skeletal muscle dysfunction (i.e., myopathy) is common in patients with alcohol use disorder. However, few clinical studies have elucidated the significance, mechanisms, and therapeutic options of alcohol-related myopathy. Preclinical studies indicate that alcohol adversely affects both anabolic and catabolic pathways of muscle-mass maintenance and that an increased proinflammatory and oxidative milieu in the skeletal muscle is the primary contributing factor leading to alcohol-related skeletal muscle dysfunction. Decreased regenerative capacity of muscle progenitor cells is emerging as an additional mechanism that contributes to alcohol-induced loss in muscle mass and impairment in muscle growth. This review details the epidemiology of alcoholic myopathy, potential contributing pathophysiologic mechanisms, and emerging literature on novel therapeutic options.
Topics: Alcohol-Related Disorders; Animals; Humans; Muscle, Skeletal; Muscular Diseases
PubMed: 28988574
DOI: No ID Found -
Best Practice & Research. Clinical... Jun 2019Myalgia is a common symptom of various neuromuscular disorders: myalgia occurs in metabolic muscle diseases, inflammatory muscle diseases, dystrophic myopathies and... (Review)
Review
Myalgia is a common symptom of various neuromuscular disorders: myalgia occurs in metabolic muscle diseases, inflammatory muscle diseases, dystrophic myopathies and myotonic muscle disorders. Myalgia leads to a significantly reduced quality of life. Other muscular symptoms that are present along with myalgia often provide the clue towards a diagnosis and include weakness, cramps and myotonia as well as the type of pain. In addition, extramuscular symptoms like an erythema in dermatomyositis can lead to the correct diagnosis. Basic diagnostic workup includes a detailed medical history, full neurologic assessment, laboratory tests, EMG and nerve conduction studies. Muscle imaging, genetic testing and muscle biopsy may be required to make a diagnosis. Whenever possible, treatment should aim to improve or correct the underlying cause for myalgia such as inflammation or hypothyroidism. Symptomatic therapy includes different avenues: Myotonia can be treated with mexiletine. Carbamazepine or phenytoin can be used in myotonic syndromes, particularly with muscle cramps. Pregabalin, gabapentin, or amitriptyline can be tried in conditions with myalgic pain. This review summarizes the symptoms, diagnostic strategies, and therapeutic approach in neuromuscular disorders that present with myalgia.
Topics: Humans; Muscular Diseases; Myalgia; Myositis; Quality of Life
PubMed: 31590993
DOI: 10.1016/j.berh.2019.101433 -
Endokrynologia Polska 2022Thyrotoxic myopathy is hyperthyroidism accompanied by muscle lesions. It is recognized as the general term for a group of symptoms with several main manifestations of... (Review)
Review
Thyrotoxic myopathy is hyperthyroidism accompanied by muscle lesions. It is recognized as the general term for a group of symptoms with several main manifestations of several hyperthyroidism patients in the course (e.g. muscle weakness, muscle paralysis, or pain). From the clinical perspective, it may only be manifested as muscle-related symptoms. The symptoms of high metabolic syndrome (e.g. thyrotoxicosis) are absent, obscured, or relatively delayed, so it can be easily misdiagnosed. Accordingly, patients experiencing the first symptom of myopathy should concentrate on the possibility of thyrotoxic myopathy. Given the clinical characteristics, thyrotoxic myopathy can be devided into chronic thyrotoxic myopathy, thyrotoxicosis with periodic paralysis, acute thyrotoxic myopathy, hyperthyroidism with myasthenia gravis, as well as infiltrating exophthalmos with ophthalmoplegia. In this paper, we review thyrotoxic myopathy research status, diagnoses, and treatments.
Topics: Humans; Hyperthyroidism; Muscle Weakness; Muscular Diseases; Paralysis; Thyrotoxicosis
PubMed: 35119093
DOI: 10.5603/EP.a2022.0004 -
Genes Apr 2023Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of... (Review)
Review
Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. In general the pathophysiology of metabolic myopathies needs to be better understood. Thanks to the advent of next-generation sequencing (NGS), genetic testing has replaced more invasive investigations and sophisticated enzymatic assays to reach a final diagnosis in many cases. The current diagnostic algorithms for metabolic myopathies have integrated this paradigm shift and restrict invasive investigations for complicated cases. Moreover, NGS contributes to the discovery of novel genes and proteins, providing new insights into muscle metabolism and pathophysiology. More importantly, a growing number of these conditions are amenable to therapeutic approaches such as diets of different kinds, exercise training protocols, and enzyme replacement therapy or gene therapy. Prevention and management-notably of rhabdomyolysis-are key to avoiding serious and potentially life-threatening complications and improving patients' quality of life. Although not devoid of limitations, the newborn screening programs that are currently mushrooming across the globe show that early intervention in metabolic myopathies is a key factor for better therapeutic efficacy and long-term prognosis. As a whole NGS has largely increased the diagnostic yield of metabolic myopathies, but more invasive but classical investigations are still critical when the genetic diagnosis is unclear or when it comes to optimizing the follow-up and care of these muscular disorders.
Topics: Infant, Newborn; Humans; Quality of Life; Muscular Diseases; Metabolism, Inborn Errors; Glycogen Storage Disease Type V; High-Throughput Nucleotide Sequencing
PubMed: 37239314
DOI: 10.3390/genes14050954 -
Seminars in Neurology Aug 2015Metabolic myopathies encompass a group of rare disorders arising from defects in glycogen breakdown (glycogenolysis), glucose utilization (glycolysis), fatty acid... (Review)
Review
Metabolic myopathies encompass a group of rare disorders arising from defects in glycogen breakdown (glycogenolysis), glucose utilization (glycolysis), fatty acid transport and oxidation, and energy production along the mitochondrial respiratory chain. The authors review the ancillary testing used in the workup of metabolic myopathies and provide a detailed discussion of these individual disorders and how to approach patients suspected to have such diagnoses.
Topics: Humans; Metabolic Diseases; Muscular Diseases
PubMed: 26502762
DOI: 10.1055/s-0035-1558973 -
Journal of Clinical Neuromuscular... Sep 2022We cover intensive care unit-acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there...
We cover intensive care unit-acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients with limb-girdle muscle dystrophy R12 (anoctaminopathy) and a misdiagnosis of idiopathic inflammatory myopathy are provided. The last section on autoimmune myopathy includes articles on clinical and pathologic features associated with myositis-specific antibodies and dermatomyositis, the epidemiology of immune-mediated necrotizing myopathies (IMNMs) in Olmsted County, Minnesota, and features of a German cohort of hydroxy-3-methylglutaryl coenzyme A reductase-associated IMNM. A recent article proposes the benefit of early intravenous immunoglobulin use for adults with IMNM. We also highlight a report of 2 unusual cases of antisignal recognition particle myopathy presenting with asymmetric distal weakness.
Topics: Autoantibodies; Autoimmune Diseases; COVID-19; Delayed Diagnosis; Humans; Muscle, Skeletal; Muscular Diseases; Muscular Dystrophy, Duchenne; Myositis; Necrosis
PubMed: 36005472
DOI: 10.1097/CND.0000000000000428 -
Journal of Neurology Jul 2018In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital... (Review)
Review
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions.
Topics: Humans; Muscular Diseases
PubMed: 29671051
DOI: 10.1007/s00415-018-8856-1 -
Neuromuscular Disorders : NMD Nov 2019Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies.... (Review)
Review
Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.
Topics: Humans; Magnetic Resonance Imaging; Muscular Diseases; Whole Body Imaging
PubMed: 31727541
DOI: 10.1016/j.nmd.2019.08.011 -
Antioxidants & Redox Signaling Aug 2022Reactive oxygen species (ROS) are highly reactive compounds that behave like a double-edged sword; they damage cellular structures and act as second messengers in... (Review)
Review
Reactive oxygen species (ROS) are highly reactive compounds that behave like a double-edged sword; they damage cellular structures and act as second messengers in signal transduction. Mitochondria and endoplasmic reticulum (ER) are interconnected organelles with a central role in ROS production, detoxification, and oxidative stress response. Skeletal muscle is the most abundant tissue in mammals and one of the most metabolically active ones and thus relies mainly on oxidative phosphorylation (OxPhos) to synthesize adenosine triphosphate. The impairment of OxPhos leads to myopathy and increased ROS production, thus affecting both redox poise and signaling. In addition, ROS enter the ER and trigger ER stress and its maladaptive response, which also lead to a myopathic phenotype with mitochondrial involvement. Here, we review the role of ROS signaling in myopathies due to either mitochondrial or ER dysfunction. Relevant advances have been evolving over the last 10 years on the intricate ROS-dependent pathways that act as modifiers of the disease course in several myopathies. To this end, pathways related to mitochondrial biogenesis, satellite cell differentiation, and ER stress have been studied extensively in myopathies. The analysis of the chemistry and the exact quantitation, as well as the localization of ROS, are still challenging due to the intrinsic labile nature of ROS and the technical limitations of their sensors. The mechanistic studies of the pathogenesis of mitochondrial and ER-related myopathies offer a unique possibility to discover novel ROS-dependent pathways. . 37, 301-323.
Topics: Animals; Endoplasmic Reticulum; Endoplasmic Reticulum Stress; Mammals; Muscular Diseases; Oxidation-Reduction; Oxidative Stress; Reactive Oxygen Species; Signal Transduction
PubMed: 35081731
DOI: 10.1089/ars.2021.0266 -
International Journal of Molecular... Feb 2021We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of...
We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology of myopathies. The Guest Editors' note combines the contributing authors' reviews and findings of relevant research, and we hope that future studies on myopathies will attempt to confirm these findings and, additionally, evaluate supplementary phenotypic and histological expressions of myopathies, as well as genetic factors in their pathogenesis.
Topics: Animals; Disease Models, Animal; Genetic Association Studies; Humans; Muscular Diseases; Mutation; Transcription Factors; Tropomyosin
PubMed: 33671495
DOI: 10.3390/ijms22042152