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Rinsho Shinkeigaku = Clinical Neurology Mar 2020Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve skeletal muscle as well as many other organs. The classification of... (Review)
Review
Inflammatory myopathies are a heterogeneous group of immune-mediated diseases that involve skeletal muscle as well as many other organs. The classification of inflammatory myopathies has been based on clinical diagnoses, pathological diagnoses, and autoantibodies, independently. Antisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is a clinical entity based on the presence of aminoacyl transfer RNA synthetase (ARS) antibodies in patients' serum. A cohort study of muscle biopsy entitled "Integrated Diagnosis Project for Inflammatory Myopathies" revealed that of 460 patients with idiopathic inflammatory myopathies, 51 (11%; female:male, 31:20) had antisynthetase myopathy. It is noted that anti-OJ antibodies, one of anti-ARS antibody subtypes, are clearly detected by RNA immunoprecipitation, but not conventional detection methods including line blot and enzyme-linked immunosorbent assays. The combined mean onset age of the patients was 60 years (range 13-85 years). There were no significant HLA-DRB1 alleles associated with anti-ARS antibodies. All patients with antisynthetase myopathy patients presented muscle limb weakness; 14 had severe weakness, 17 neck weakness, 15 dysphagia, and 15 muscle atrophy. Although patients with anti-OJ antibodies showed severe muscle weakness, the clinical presentations defined by anti-ARS antibodies were relatively homogeneous. In muscle pathology, perifascicular necrosis is a distinctive hallmark of antisynthetase myopathy. Patients with antisynthetase myopathy responded to the combination of immunosuppressive therapy, with favorable outcomes. However, interstitial lung disease, found in 41 patients, was more closely related to mortality than myositis. Antisynthetase myopathy has a distinct clinical and histological entity among idiopathic inflammatory myopathies.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acyl-tRNA Synthetases; Autoantibodies; Exanthema; Female; Humans; Immunoprecipitation; Immunosuppressive Agents; Joint Diseases; Lung Diseases, Interstitial; Male; Middle Aged; Muscle Weakness; Muscles; Muscular Diseases; Syndrome; Young Adult
PubMed: 32101845
DOI: 10.5692/clinicalneurol.cn-001383 -
Neuromuscular Disorders : NMD Jan 2021Dysphagia (impaired swallowing) is not a rare problem in various neuromuscular disorders, both in the pediatric and the adult patient population. On many occasions such... (Review)
Review
Dysphagia (impaired swallowing) is not a rare problem in various neuromuscular disorders, both in the pediatric and the adult patient population. On many occasions such patients are first presented to other medical specialists or health professionals. Disorders of deglutition are probably underrecognized in patients with a neuromuscular disease as a result of patient's and doctor's delay. This review will focus on dysphagia in adults suffering from a myopathy. Dysphagia in myopathies usually affects the oropharyngeal phases which rely mostly on voluntary muscle activity of the mouth, pharynx and upper esophageal sphincter. Dysphagia is known to contribute to a reduction of quality of life and may also lead to increased morbidity and mortality. The review includes an overview on symptomatology and tools of assessments, and elaborates on dysphagia in specific hereditary and acquired myopathies.
Topics: Deglutition; Deglutition Disorders; Esophagus; Humans; Mouth; Muscular Diseases; Pharynx; Quality of Life
PubMed: 33334661
DOI: 10.1016/j.nmd.2020.11.001 -
Indian Journal of Pathology &... May 2022Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent... (Review)
Review
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by establishing the three major CM, central core disease, nemaline myopathy, and centronuclear myopathy which later pluralized each when the molecular era began at the end of last century. Quickly, during the following 5 decades, many new CM entities were described, based on muscle biopsies and their CM-characteristic myopathology, the former a prerequisite to recognizing an individual CM, the latter of the nosological hallmark of the individual CM. When the molecular era ushered in immunohistochemistry the spectrum and nosography of CM altered in that some CM became allelic to other cohorts of NMD, e.g., congenital muscular dystrophies, other muscular dystrophies, distal myopathies based on different or identical mutations in the same gene. The nosological spectrum of a defective gene also enlarged by recognizing several entities with mutations in the same gene, and same or similar nosological conditions originated from mutations in different genes. Lately, however, CM were reported which lacked any individual myopathological hallmarks, but were clearly based on molecular defects, a fair number of them being newly identified ones. Few CM still remain without any molecular clarification. This nosographic development rendered the original definition of such new CM questionable and brought uncertainty to their classification and nomenclature.
Topics: Biopsy; Histocytochemistry; Humans; Microscopy, Electron; Muscular Diseases; Mutation
PubMed: 35562159
DOI: 10.4103/ijpm.ijpm_1031_21 -
Muscle & Nerve Sep 2023Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and...
Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and weakness in children and adults, distinct from the severe forms that involve multiple-organ systems. These nonspecific, dynamic symptoms along with conditions that mimic metabolic myopathies can make diagnosis challenging. Clinicians can shorten the time to diagnosis by recognizing the typical clinical phenotypes and performing next generation sequencing. With improved access and affordability of molecular testing, clinicians need to be well-versed in resolving variants of uncertain significance relevant to metabolic myopathies. Once identified, patients can improve quality of life, safely engage in exercise, and reduce episodes of rhabdomyolysis by modifying diet and lifestyle habits.
Topics: Humans; Quality of Life; Muscular Diseases; Metabolism, Inborn Errors; Muscle, Skeletal; Rhabdomyolysis; Mitochondrial Myopathies
PubMed: 37226557
DOI: 10.1002/mus.27840 -
Neurologic Clinics Aug 2014Muscle tissue is highly sensitive to many substances. Early recognition of toxic myopathies is important, because they potentially are reversible on removal of the... (Review)
Review
Muscle tissue is highly sensitive to many substances. Early recognition of toxic myopathies is important, because they potentially are reversible on removal of the offending drug or toxin, with greater likelihood of complete resolution the sooner this is achieved. Clinical features range from mild muscle pain and cramps to severe weakness with rhabdomyolysis, renal failure, and even death. The pathogenic bases can be multifactorial. This article reviews some of the common toxic myopathies and their clinical presentation, histopathologic features, and possible underlying cellular mechanisms.
Topics: Anticholesteremic Agents; Creatine Kinase; Female; Humans; Immunosuppressive Agents; Male; Muscular Diseases; Propofol; Toxins, Biological
PubMed: 25037083
DOI: 10.1016/j.ncl.2014.04.009 -
The Veterinary Clinics of North... Aug 2018Optimal function of skeletal muscle is essential for successful athletic performance. Even minor derangements in locomotor muscle function will impact power output,... (Review)
Review
Optimal function of skeletal muscle is essential for successful athletic performance. Even minor derangements in locomotor muscle function will impact power output, coordination, stamina, and desire to work during exercise. In this review, the presenting clinical signs, differential diagnoses, approach to diagnostic testing and treatment of muscle atrophy and weakness, focal muscle strain, and exertional myopathies are discussed. Exertional myopathies include polysaccharide storage myopathies, recurrent exertional rhabdomyolysis, malignant hyperthermia, and myofibrillar myopathy.
Topics: Animals; Genetic Predisposition to Disease; Horse Diseases; Horses; Muscular Diseases; Physical Exertion
PubMed: 29853158
DOI: 10.1016/j.cveq.2018.04.004 -
QJM : Monthly Journal of the... Mar 2023
Topics: Humans; Muscular Diseases; Hypothyroidism
PubMed: 36205719
DOI: 10.1093/qjmed/hcac231 -
Handbook of Clinical Neurology 2016Muscle ultrasound is an ideal imaging modality that allows for noninvasive, radiation-free point-of-care neuromuscular imaging. There are many potential applications of... (Review)
Review
Muscle ultrasound is an ideal imaging modality that allows for noninvasive, radiation-free point-of-care neuromuscular imaging. There are many potential applications of muscle ultrasound, including identification of abnormal muscle movements such as fasciculations, evaluation of muscle trauma, identification of physiologic parameters such as pennation angle, accurate performance of chemodenervation, and improved accuracy of challenging electrodiagnostic studies such as phrenic nerve conduction studies or needle electromyogram (EMG) of the diaphragm. Tissue Doppler imaging can be used to help identify inflammatory myopathies. With computer-assisted quantification, muscle ultrasound has high sensitivity and specificity in the diagnosis of pediatric neuromuscular disease and amyotrophic lateral sclerosis, and is a valuable addition to other diagnostic techniques for neuromuscular disease. When used as a first-line screening tool it can obviate the need for more invasive procedures such as EMG or muscle biopsy in certain patients. This chapter provides an overview of the fundamentals, clinical applications, and validation of muscle ultrasound for patients with neuromuscular disorders.
Topics: Animals; Humans; Muscles; Muscular Diseases; Ultrasonography
PubMed: 27430445
DOI: 10.1016/B978-0-444-53486-6.00042-9 -
Current Opinion in Pharmacology Feb 2023Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene... (Review)
Review
Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and protein, and of the distribution of variations all along the sequence. Taking advantage of the progress made in the gene therapy field, different approaches can be applied to the different genetic variations, either at the mRNA level or directly at the DNA level, specifically with the new gene editing tools. Some of those have already been tested in cellulo and/or in vivo, and for the development of the most innovative gene editing technology, inspiration can be sought in other genetic diseases.
Topics: Humans; Ryanodine Receptor Calcium Release Channel; Muscular Diseases; Muscle, Skeletal; Mutation
PubMed: 36529094
DOI: 10.1016/j.coph.2022.102330 -
Journal of Binocular Vision and Ocular... 2022Myopathies are neuromuscular disorders of the skeletal muscles, in which the main symptom is muscle weakness due to muscle fiber dysfunction. Myopathies may be... (Review)
Review
BACKGROUND
Myopathies are neuromuscular disorders of the skeletal muscles, in which the main symptom is muscle weakness due to muscle fiber dysfunction. Myopathies may be classified into two main categories: inherited and acquired. Hereditary myopathies are a heterogeneous group of diseases that include congenital myopathies, mitochondrial myopathies, myotonic syndromes, muscular dystrophies, and other myopathies.
PURPOSE
The objective of this paper is to review the ophthalmological findings and genetic patterns of hereditary myopathies.
METHODS
This review is based on articles obtained by a relevant search of the PubMed database.
CONCLUSION
Ophthalmoplegia with or without ptosis and pupil sparing appeared to be the most frequent ophthalmological manifestation of myopathies. The identification of the main ophthalmological features can help in the diagnosis and treatment of these muscular diseases.
Topics: Humans; Muscle, Skeletal; Muscular Diseases; Paresis
PubMed: 35049410
DOI: No ID Found