"Myopathy"

Idiopathic inflammatory myopathies Skip to main contentSkip to searchLog inEnglish#{autosuggest.search}#{autosuggest.search}Idiopathic inflammatory myopathies MENULog in or subscribe to access all of BMJ Best PracticeLast reviewed:8 Oct 2023Last updated:03 Nov 2023SummaryIdiopathic inflammatory myopathies are a heterogeneous group of connective tissue disorders characterised by progressive reduction or withdrawal of corticosteroid treatment.Specialist multidisciplinary team involvement is essential for optimal patient outcomes.DefinitionIdiopathic inflammatory myopathies (IIMs) constitute a heterogeneous group of subacute, chronic, and, rarely, acute diseases of skeletal muscle that have in common the presence of moderate to severe proximal muscle weakness and inflammation on muscle biopsy

Alternative Therapies to Immunoglobulin for Idiopathic Inflammatory Myopathies Return to Article DetailsAlternative Therapies to Immunoglobulin for Idiopathic Inflammatory Myopathies

British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy | Rheumatology | Oxford Academic We use cookies to enhance your experience on our website.By continuing to use our * Scope and purpose * Recommendations * Acknowledgements * References * < Previous * Next > Article Navigation Article Navigation Journal Article Editor's Choice British Society for Rheumatology guideline on management of paediatric, adolescent and adult patients with idiopathic inflammatory myopathy Alexander G S Oldroyd, Alexander G S Oldroyd NIHR Manchester Biomedical Research Centre

Abatacept for refractory idiopathic inflammatory myopathies (adults and children aged 2 years and over) NHS England » Abatacept for refractory idiopathic inflammatory myopathies (adults and children aged 2 years and over) Skip to main content Cookies on the NHS England websiteWe’ve put some small files called cookies on your device to make our site work.We’d also like to use analytics cookies * Our work * Commissioning * Get involvedOur advice for clinicians on the coronavirus is here.If you are a member of the public looking for information and advice about coronavirus (COVID-19), including information about the COVID-19 vaccine, go to the NHS website. You can also find guidance and support on the GOV.UK website.Abatacept for refractory idiopathic inflammatory myopathies (adults

Outcome of COVID-19 in patients with idiopathic inflammatory myopathy during the Omicron wave in China: A longitudinal observational study. The coronavirus disease pandemic brought unknown challenges to patients with idiopathic inflammatory myopathy, who are often heavily immunosuppressed and have comorbidities. We aimed to investigate the outcomes and risk factors of coronavirus disease in Chinese patients with idiopathic inflammatory myopathy during the Omicron wave. This observational study included patients with idiopathic inflammatory myopathy who visited the China-Japan Friendship Hospital. Data on baseline characteristics and coronavirus disease-related information were collected through medical records and surveys, and subsequently analysed. Overall, 204 patients with idiopathic

Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy. To describe a novel subtype of autoimmune myopathy, immune-mediated megaconial myopathy (IMMM), myopathologically characterized by giant mitochondria (megaconia). In this case series, we reviewed the Mayo Clinic Muscle Pathology database, between 2018 and 2023, to identify patients with megaconial pathology, subacute . Of interest, all patients had coexisting pancreatic diseases (3 cystic fibrosis-related exocrine pancreatic insufficiency, 1 pancreatic cancer, and 1 pancreatitis). In addition to incurable -congenital muscular dystrophy, giant mitochondria can also occur in this new subtype of treatable autoimmune myopathy, IMMM. The association between IMMM and pancreatic disorders remains to be elucidated.

Amyloid myopathy mimicked with idiopathic inflammatory myopathy diagnosed using Congo red staining: a case report. Amyloid myopathy often occurs in the context of systemic amyloidosis, as a rare manifestation of "light chain" (AL) amyloidosis, accounting for 1% of its incidence. A 58-year-old man with two years history of weakness and edema of lower extremity, elevated creatine kinase (CK ), and inflammatory lesions from muscle biopsy which was misdiagnosed as inflammatory myopathy. After immunotherapy, the original symptoms worsened. We later confirmed the disease through MRI, Congo red staining and bone marrow puncture results. Our purpose is that to increase awareness of amyloid myopathy to minimize the risk of misdiagnosis and emphasize the importance of Congo red staining in diagnosing similar

Does spastic myopathy determine active movement and ambulation speed in chronic spastic paresis?-A cross-sectional study on plantar flexors. Functional correlates of spastic myopathy, the muscle disorder of spastic paresis, are unknown. To explore reciprocal relationships between clinical and structural parameters of plantar flexors with i) ambulation speed, ii) dorsiflexion and plantarflexion

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation

Markers of Left Atrial Myopathy: Prognostic Usefulness for Ischemic Stroke and Dementia in People in Sinus Rhythm. Various measures of abnormal left atrial (LA) structure or function (LA myopathy) are associated with a higher risk of ischemic stroke and dementia, independent of atrial fibrillation. However, limited data exist on their prognostic usefulness. Therefore, we aimed to assess the ability of markers of LA myopathy to improve the prediction of ischemic stroke and dementia. The ARIC study (Atherosclerosis Risk in Communities) is a prospective community-based cohort study. For this analysis, we included participants who attended visit 5 (2011-2013) without a history of stroke or atrial fibrillation and had a 12-lead ECG and a transthoracic echocardiogram. Markers of LA myopathy

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. Heterozygous pathogenic variants in SPTAN1 cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate the role of SPTAN1 in genetically unsolved hereditary myopathies. Through of the extensor hallucis longus muscle. Muscle biopsy revealed myopathic changes in 7 patients. Finally, we provide proof for nonsense mediated decay in muscle tissue derived from two patients. We present evidence linking heterozygous SPTAN1 loss-of-function variants to childhood-onset distal myopathy in 14 unrelated families.

GDF15 Neutralization Ameliorates Muscle Atrophy and Exercise Intolerance in a Mouse Model of Mitochondrial Myopathy. Primary mitochondrial myopathies (PMMs) are disorders caused by mutations in genes encoding mitochondrial proteins and proteins involved in mitochondrial function. PMMs are characterized by loss of muscle mass and strength as well as impaired exercise capacity. Growth

Mitochondrial transplantation as a novel therapeutic approach in idiopathic inflammatory myopathy. This study aimed to investigate the efficacy of mitochondrial transplantation as a therapeutic intervention for idiopathic inflammatory myopathy (IIM). This study used a comprehensive approach, incorporating both in vitro and in vivo IIM models, and conducted a first-in-human clinical trial

An update on the pathogenesis of idiopathic inflammatory myopathies. As the question of the pathogenesis of inflammatory myopathies remains unanswered, there has been a significant effort in recent years to investigate various components of the innate and adaptive immune systems, with evidence pointing that they work together to initiate and propagate the autoimmune response. This review aims to explore recent advancements in understanding the mechanisms underlying myopathies. Recent research has concentrated on uncovering potential triggers, examining the role of immune cells, both lymphocytes and myeloids, and investigating the contribution of inflammatory mediators to the autoimmune response in inflammatory myopathies. Unsuccessful clinical trials helped reshape established hypotheses about

Anti-HMGCR myopathy: estimated five-fold higher incidence in Polynesian compared with European populations in Aotearoa/New Zealand. In 2014 the incidence of anti-3-hydroxy-3-methylglutaryl-CoA-reductase (HMGCR) myopathy in New Zealand was ∼1.7 case/million persons/year. This study aimed to re-estimate the population incidence and assess ethnic variation in those aged >40 years old. An incidence cohort was defined by seropositivity for immunoprecipitating anti-HMGCR autoantibodies tested at a national reference laboratory between 1 October 2019 and 30 September 2021. Separately, ethnicity standardized incidence in >40 year olds discharged from New Zealand public hospitals for idiopathic and unspecified myopathy [International Statistical Classification of Disease and Related Health Problems

Treatment guidelines for idiopathic inflammatory myopathies in adults: a comparative review. Myositis, or idiopathic inflammatory myopathy, encompasses a group of autoimmune diseases with broad-spectrum clinical presentations, with a common presentation of muscle weakness and inflammation. The management of myositis presents significant challenges due to the rarity and variability of the disease

Role of CD19 Chimeric Antigen Receptor T Cell Therapy in Idiopathic Inflammatory Myopathies. Idiopathic inflammatory myopathies (IIMs) comprise a spectrum of autoinflammatory disease characterized primarily by muscle inflammation, with secondary involvement of diverse organs including joints, skin, lungs, heart, and the gastrointestinal system. Managing these conditions poses considerable

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome. Store-operated Ca entry (SOCE) is a ubiquitous mechanism controlling Ca homeostasis and relies on the reticular Ca sensor STIM1 and the plasma membrane Ca channel ORAI1. and gain-of-function mutations induce excessive Ca influx through SOCE overactivation and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK), two overlapping disorders characterised by muscle weakness and additional signs such as short stature, thrombocytopenia and hyposplenism. Most patients carry missense mutations in the STIM1 Ca-sensing EF-hands or in the CC1 domain implicated in ORAI1 activation.Here we report the first STIM1 deletion in a patient with moderate TAM/STRMK phenotype

Sonographic Demonstration of Myopathy in Mycosis Fungoides. This case report describes a diagnosis of muscle infiltration of mycosis fungoides in a female aged 36 years with initial disease manifesting as pigmented skin patches.

Targeting B Cells for the Treatment of Idiopathic Inflammatory Myopathy. Idiopathic inflammatory myopathy (IIM) is a group of heterogeneous diseases that can affect multiple systems. Currently, it is classified into different subtypes based on myositis-specific antibodies and muscle tissue pathology. These subtypes vary in treatment response and clinical prognosis, with poor treatment outcomes