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Hormone and Metabolic Research =... May 2024Glucocorticoid-induced myopathy is a non-inflammatory toxic myopathy typified by proximal muscle weakness, muscle atrophy, fatigue, and easy fatigability. These vague... (Review)
Review
Glucocorticoid-induced myopathy is a non-inflammatory toxic myopathy typified by proximal muscle weakness, muscle atrophy, fatigue, and easy fatigability. These vague symptoms coupled with underlying disorders may mask the signs of glucocorticoid-induced myopathy, leading to an underestimation of the disease's impact. This review briefly summarizes the classification, pathogenesis, and treatment options for glucocorticoid-induced muscle wasting. Additionally, we discuss current diagnostic measures in clinical research and routine care used for diagnosing and monitoring glucocorticoid-induced myopathy, which includes gait speed tests, muscle strength tests, hematologic tests, bioelectrical impedance analysis (BIA), dual-energy X-ray absorptiometry (DXA), computed tomography (CT), magnetic resonance imaging (MRI), electromyography, quantitative muscle ultrasound, histological examination, and genetic analysis. Continuous monitoring of patients receiving glucocorticoid therapy plays an important role in enabling early detection of glucocorticoid-induced myopathy, allowing physicians to modify treatment plans before significant clinical weakness arises.
Topics: Humans; Glucocorticoids; Muscular Diseases
PubMed: 38224966
DOI: 10.1055/a-2246-2900 -
Oxidative Medicine and Cellular... 2016Skeletal myopathy has been identified as a major comorbidity of heart failure (HF) affecting up to 20% of ambulatory patients leading to shortness of breath, early... (Review)
Review
Skeletal myopathy has been identified as a major comorbidity of heart failure (HF) affecting up to 20% of ambulatory patients leading to shortness of breath, early fatigue, and exercise intolerance. Neurohumoral blockade, through the inhibition of renin angiotensin aldosterone system (RAS) and β-adrenergic receptor blockade (β-blockers), is a mandatory pharmacological therapy of HF since it reduces symptoms, mortality, and sudden death. However, the effect of these drugs on skeletal myopathy needs to be clarified, since exercise intolerance remains in HF patients optimized with β-blockers and inhibitors of RAS. Aerobic exercise training (AET) is efficient in counteracting skeletal myopathy and in improving functional capacity and quality of life. Indeed, AET has beneficial effects on failing heart itself despite being of less magnitude compared with neurohumoral blockade. In this way, AET should be implemented in the care standards, together with pharmacological therapies. Since both neurohumoral inhibition and AET have a direct and/or indirect impact on skeletal muscle, this review aims to provide an overview of the isolated effects of these therapeutic approaches in counteracting skeletal myopathy in HF. The similarities and dissimilarities of neurohumoral inhibition and AET therapies are also discussed to identify potential advantageous effects of these combined therapies for treating HF.
Topics: Animals; Exercise; Heart Failure; Humans; Models, Biological; Muscle, Skeletal; Muscular Diseases
PubMed: 26904163
DOI: 10.1155/2016/4374671 -
Biomedicine & Pharmacotherapy =... Dec 2022Immune-mediated necrotizing myopathy (IMNM) is a class of idiopathic inflammatory myopathies. According to the types of antibodies in serum, IMNM can be divided into... (Review)
Review
Immune-mediated necrotizing myopathy (IMNM) is a class of idiopathic inflammatory myopathies. According to the types of antibodies in serum, IMNM can be divided into three subtypes: anti-signal recognition particle (SRP) necrotizing myopathy, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) necrotizing myopathy, and serum antibody-negative necrotizing myopathy. Different subtypes of IMNM have common characteristics, but the specific pathological mechanisms differ. Anti-SRP necrotizing myopathy is an important type of IMNM. At present, the pathogenesis of the disease is unclear. Most views suggest that the disease is mainly caused by an autoimmune response; therefore, the therapeutic strategy is primarily immune regulation. Recent studies have implicated non-immune mechanisms such as endoplasmic reticulum stress and autophagy in the occurrence and development of the disease. Here, we review what is known about the pathogenesis of anti-SRP necrotizing myopathy and summarize the latest research progress, aiming to better understand the disease and provide new ideas for treatment targets.
Topics: Humans; Signal Recognition Particle; Autoantibodies; Muscle, Skeletal; Necrosis; Muscular Diseases; Myositis; Autoimmune Diseases
PubMed: 36411623
DOI: 10.1016/j.biopha.2022.113936 -
Neurological Sciences : Official... Nov 2022GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy... (Review)
Review
GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy mainly focuses on a sialic acid deficiency caused by a mutation in the GNE gene, but it has not achieved the expected effect. The main pathological features of GNE myopathy are myofiber atrophy and rimmed vacuoles, including accumulation of amyloid β, which is mainly found in atrophic muscle fibers. Although the role of amyloid β and other misfolded proteins on the nervous system has been widely recognized, the cause and process of the formation of amyloid β in the pathological process of GNE myopathy are unclear. In addition, amyloid β has been reported to be linked to quality control mechanisms of proteins, such as molecular chaperones, the ubiquitin-proteasome system, and the autophagy-lysosome system. Herein, we summarize the possible reasons for amyloid β deposition and illustrate amyloid β-mediated events in the cells and their role in muscle atrophy in GNE myopathy. This review represents an overview of amyloid β and GNE myopathy that could help identify a potential mechanism and thereby a plausible therapeutic for the disease.
Topics: Humans; Amyloid beta-Peptides; Multienzyme Complexes; Distal Myopathies; Muscular Diseases; Mutation; Muscular Atrophy; Muscle, Skeletal
PubMed: 35904705
DOI: 10.1007/s10072-022-06301-7 -
Acta Myologica : Myopathies and... Dec 2020Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. For practical reasons we decided to use the age of 40 years as a cut-off.... (Review)
Review
Late-onset myopathies are not well-defined since there is no clear definition of 'late onset'. For practical reasons we decided to use the age of 40 years as a cut-off. There are diseases which only manifest as late onset myopathy (inclusion body myositis, oculopharyngeal muscular dystrophy and axial myopathy). In addition, there are diseases with a wide range of onset including 'late onset' muscle weakness. Well-known and rather frequently occurring examples are Becker muscular dystrophy, limb girdle muscular dystrophy, facioscapulohumeral dystrophy, Pompe disease, myotonic dystrophy type 2, and anoctamin-5-related distal myopathy. The above-mentioned diseases will be discussed in detail including clinical presentation - which can sometimes lead someone astray - and diagnostic tools based on real cases taken from the author's practice. Where appropriate a differential diagnosis is provided. Next generation sequencing (NGS) may speed up the diagnostic process in hereditary myopathies, but still there are diseases, e.g. with expansion repeats, deletions, etc, in which NGS is as yet not very helpful.
Topics: Adult; Age of Onset; Aged; Diagnosis, Differential; Female; Glycogen Storage Disease Type II; Humans; Male; Middle Aged; Muscular Dystrophies; Myositis, Inclusion Body
PubMed: 33458579
DOI: 10.36185/2532-1900-027 -
Journal of Neurology Sep 2023
Topics: Humans; Muscular Diseases; Phenotype; Muscle, Skeletal; Perilipin-4
PubMed: 37145156
DOI: 10.1007/s00415-023-11729-8 -
Current Opinion in Rheumatology Nov 2017To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy. (Review)
Review
PURPOSE OF REVIEW
To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy.
RECENT FINDINGS
Inherited myopathies, such as dysferlinopathy, calpainopathy, and facioscapulohumeral dystrophy may be misdiagnosed as autoimmune myopathy, especially when they have inflammatory muscle biopsies. Inclusion body myositis is frequently misdiagnosed as polymyositis when rimmed vacuoles are absent on muscle biopsy, and a careful neuromuscular evaluation is not performed. Hypothyroid myopathy can be misdiagnosed as immune-mediated necrotizing myopathy if thyroid function tests, including a T4 level, are not obtained. Self-limited statin myopathy can be distinguished from statin-associated autoimmune myopathy because patients with the former do not have autoantibodies recognizing 3-hydroxy-3-methylglutaryl-coenzyme A reductase.
SUMMARY
Autoimmune myopathies can usually be distinguished from nonautoimmune myopathies based on a combination of the patient history, neuromuscular exam, laboratory findings, and/or muscle biopsy features.
Topics: Autoantibodies; Autoimmune Diseases; Biopsy; Diagnostic Errors; Humans; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Facioscapulohumeral; Myositis
PubMed: 28832350
DOI: 10.1097/BOR.0000000000000441 -
BMJ Case Reports Sep 2021Immune-mediated necrotising myopathy is a subtype of idiopathic inflammatory myopathy characterised by muscle fibre necrosis without significant inflammatory infiltrate....
Immune-mediated necrotising myopathy is a subtype of idiopathic inflammatory myopathy characterised by muscle fibre necrosis without significant inflammatory infiltrate. Anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) myopathy is seen in 6%-10% of idiopathic inflammatory myopathy and is diagnosed in the context of elevated serum creatine kinase levels, proximal muscle weakness and anti-HMGCR autoantibodies. We recently encountered a 61-year-old man with anti-HMGCR myopathy with an atypical skin manifestation, partially responsive to triple therapy with steroids, intravenous immunoglobulin (IVIG) and rituximab. To our knowledge, there have been only four reported cases of skin rash associated with anti-HMGCR myopathy. Our case demonstrates the importance of recognising atypical manifestations of anti-HMGCR myopathy. Early addition of IVIG and rituximab is also critical in patients not responding to steroid monotherapy. Delay in achieving remission leads to prolonged steroid use, lower likelihood of beginning physical therapy and overall worse clinical outcomes.
Topics: Coenzymes; Humans; Hydroxymethylglutaryl CoA Reductases; Male; Middle Aged; Muscular Diseases; Myositis; Oxidoreductases
PubMed: 34544705
DOI: 10.1136/bcr-2021-243728 -
Romanian Journal of Internal Medicine =... Sep 2021Sepsis and septic shock are considered major factors in the development of myopathy in critically ill patients, which is correlated with increased morbidity rates and... (Review)
Review
Sepsis and septic shock are considered major factors in the development of myopathy in critically ill patients, which is correlated with increased morbidity rates and ICU length of stay. The underlying pathophysiology is complex, involving mitochondrial dysfunction, increased protein breakdown and muscle inexcitability. Sepsis induced myopathy is characterized by several electrophysiological and histopathological abnormalities of the muscle, also has clinical consequences such as flaccid weakness and failure to wean from ventilator. In order to reach definite diagnosis, clinical assessment, electrophysiological studies and muscle biopsy must be performed, which can be challenging in daily practice. Ultrasonography as a screening tool can be a promising alternative, especially in the ICU setting. Sepsis and mechanical ventilation have additive effects leading to diaphragm dysfunction thus complicating the patient's clinical course and recovery. Here, we summarize the effects of the septic syndrome on the muscle tissue based on the existing literature.
Topics: Critical Illness; Humans; Intensive Care Units; Length of Stay; Muscle Weakness; Muscular Diseases; Respiration, Artificial; Sepsis
PubMed: 33544555
DOI: 10.2478/rjim-2021-0005 -
Annals of Clinical and Translational... Jul 2023Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
OBJECTIVE
Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
METHODS
Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond Street Hospital. Findings were compared to clinical data and MRI patterns derived from collated published data.
RESULTS
Twenty-seven patients with MRI were identified (8 NEB-NM, 13 ACTA1-NM, 6 TPM3-NM). NEB-NM demonstrated sparing of the thigh. ACTA1-NM demonstrated diffuse thigh involvement, notable in the vasti, sartorius and biceps-femoris, with relative adductor and gracilis sparing. TPM3-NM demonstrated diffuse thigh involvement notable in biceps-femoris and adductor magnus with relative rectus femoris, adductor longus and gracilis sparing. In the lower leg, the soleus and tibialis anterior are notably involved in all three genotypes. NEB-NM and ACTA1-NM demonstrated relative gastrocnemii and tibialis posterior sparing, while TPM3-NM showed significantly more tibialis posterior involvement (P =< 0.05). Comparison of involvement patterns with literature datasets highlighted preferential adductor and gracilis sparing in our ACTA1-NM cohort, consistent tibialis posterior involvement in our TPM3-NM cohort and a distinct MRI pattern from those derived from other NM genotypes and congenital myopathies. Greater tibialis anterior involvement correlated with foot drop (P = 0.02). Greater tibialis anterior and extensor hallucis longus involvement correlated with worse mobility (P =< 0.04).
INTERPRETATION
This is the widest NM MRI data set described to date; we describe distinct muscle involvement patterns for NEB-NM, ACTA1-NM and TPM3-NM which may have utility as diagnostic and prognostic biomarkers and aid in genetic variant interpretation.
Topics: Humans; Myopathies, Nemaline; Mutation; Muscle, Skeletal; Muscular Diseases; Magnetic Resonance Imaging; Biomarkers
PubMed: 37265148
DOI: 10.1002/acn3.51816