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Beijing Da Xue Xue Bao Yi Xue Ban 2019 Apr;51(2):374-377

Department of Rheumatology and Clinical Immunology, Xiangya Hospital, Central South University, Changsha 410008, China.

Idiopathic inflammatory myopathy (IIM) is a rare group of autoimmune diseases, characterized by chronic muscle weakness, muscle fatigue and infiltration of single nuclear cells in skeletal muscle. Its subtypes include dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and immune-mediated necrotizing myositis (IMNM), and the most common subtypes are DM and PM. PM is an autoimmune disease mainly manifested by muscle damage. Read More

Muscle Nerve 2019 Apr 16. Epub 2019 Apr 16.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Introduction: UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary-inclusion-body-myopathy (HIBM).

Methods: We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositis without quadriceps-sparing, hindering diagnosis. We show how genetic testing with functional assays, clinical transcriptome sequencing (RNA-seq) in particular, helped facilitate both the diagnosis and a better understanding of the genotype-phenotype relationship. Read More

Neuromuscul Disord 2019 Mar 2. Epub 2019 Mar 2.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Actinopathy is a group of clinically and pathologically heterogeneous myopathies due to mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1). Disease-onset spans from prenatal life to adulthood and weakness can preferentially affect proximal or distal muscles. Myopathological findings include a spectrum of structural abnormalities with nemaline rods being the most common. Read More

J Neurol Neurosurg Psychiatry 2019 Apr 11. Epub 2019 Apr 11.

Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.

Muscle Nerve 2019 Apr 10. Epub 2019 Apr 10.

Department of Neurology, University of Colorado School of Medicine, Denver, CO.

Introduction: The utility of repeat muscle biopsy has not been adequately evaluated.

Methods: A retrospective review was undertaken of 144 repeat muscle biopsies performed from 1980-2017. Repeat biopsy was considered clinically relevant if it provided a new diagnosis, changed the existing diagnosis, or led to treatment changes or further investigations. Read More

Immunol Med 2018 Jun 11;41(2):46-54. Epub 2018 Sep 11.

b Division of rheumatology, Department of Medicine , Solna, Karolinska Institutet, and Karolinska University Hospital , Stockholm , Sweden.

The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of disorders characterized, as common feature, by inflammation of skeletal muscle and muscle weakness. Traditionally, IIMs have been subclassified in into polymyositis, dermatomyositis and inclusion body myositis, but this subclassification has several limitations, because clinical features as well as treatment response vary within the three IIM subgroups. In the last years several novel autoantibodies in patients with IIMs have been identified. Read More

J Gen Intern Med 2019 Mar 18. Epub 2019 Mar 18.

Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.

We discuss a challenging case of a 58-year-old Vietnamese-American woman who presented to her new primary care provider with an 8-year history of slowly progressive dysphagia, hoarseness, muscle weakness with associated frequent falls, and weight loss. She eventually reported dry eyes and dry mouth, and she was diagnosed with Sjogren's syndrome. Subsequently, she was additionally diagnosed with inclusion body myositis and gastric light-chain (AL) amyloidosis. Read More

RMD Open 2019 26;5(1):e000811. Epub 2019 Feb 26.

IMRB, Inserm U955-Team 10, Paris Est-Creteil University, Paris, France.

Objective: The role of interferons (IFN) in the pathophysiology of primary inflammatory and dysimmune myopathies (IDM) is increasingly investigated, notably because specific neutralisation approaches may constitute promising therapeutic tracks. In present work we analysed the muscular expression of specific IFNα/β and IFNγ-stimulated genes in patients with various types of IDM.

Methods: 39 patients with IDM with inclusion body myositis (IBM, n=9), dermatomyositis (DM, n=10), necrotising autoimmune myopathies (NAM, n=10) and antisynthetase myositis (ASM, n=10), and 10 controls were included. Read More

Rheumatology (Oxford) 2019 Mar 8. Epub 2019 Mar 8.

Federation of Translational Medicine of Strasbourg, Strasbourg University, Strasbourg, France.

Objective: To devise a simple PET-CT score for measurement of muscle disease activity in patients with inflammatory myopathies (IMs) and to assess its validity.

Methods: A total of 44 PET-CT examinations in 34 IM patients (performed during cancer screening) and 20 PET-CT examinations in matched controls (investigated for pulmonary nodules with a conclusion of benignity) were analysed. Maximal standardized uptake values (SUVmax) were recorded bilaterally in eight proximal muscles. Read More

Neurology 2019 Apr 8;92(15):e1773-e1785. Epub 2019 Mar 8.

From Queen Square MRC Centre for Neuromuscular Diseases, Institute of Neurology (A.W., A.P., M.D., P.M.M., M.L., I.S., M.S., M.M.R., M.G.H., G.M.R.), Institute of Sport, Exercise and Health (P.H.), and Department of Statistical Science (G.B.), University College London; National Hospital for Neurology and Neurosurgery (E.D., K.J.), University College Hospitals, NHS Foundation Trust; Faculty of Health, Social Care & Education (M.D., G.M.R.), Kingston University/St George's University of London; Department of Psychology (A.S.), University of Surrey, Guildford; Charcot Marie Tooth United Kingdom (K.B.), Registered Charity Number 1112370; and Movelab (M.T.), Newcastle University, UK.

Objective: The aim of this phase 2 trial was to ascertain the feasibility and effect of community-based aerobic exercise training for people with 2 of the more common neuromuscular diseases: Charcot-Marie-Tooth disease type 1A (CMT) and inclusion body myositis (IBM).

Methods: A randomized single-blinded crossover trial design was used to compare a 12-week aerobic training program using recombinant exercise bicycles compared to a control period. The training occurred 3 times per week in community gyms local to the participants. Read More

Neuromuscul Disord 2019 Mar 10;29(3):242-246. Epub 2019 Feb 10.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Pb 7804, 5020, Norway. Electronic address:

Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions have also been reported, but not consistently. Since mtDNA deletions are not present in all cases, we investigated whether other types of mtDNA abnormality were responsible for the mitochondrial changes. Read More

Nat Rev Rheumatol 2019 Mar 5. Epub 2019 Mar 5.

Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.

Inclusion body myositis (IBM) is often viewed as an enigmatic disease with uncertain pathogenic mechanisms and confusion around diagnosis, classification and prospects for treatment. Its clinical features (finger flexor and quadriceps weakness) and pathological features (invasion of myofibres by cytotoxic T cells) are unique among muscle diseases. Although IBM T cell autoimmunity has long been recognized, enormous attention has been focused for decades on several biomarkers of myofibre protein aggregates, which are present in <1% of myofibres in patients with IBM. Read More

Autoimmun Rev 2019 Apr 28;18(4):325-333. Epub 2019 Feb 28.

Centre of Research in Myology, Sorbonne Université, INSERM, Association Institut de Myologie, UMRS 974, 75013 Paris, France; Department of Internal Medicine and Clinical Immunology, Pitié-Salpêtrière University Hospital, DHU I2B, AP-HP, INSERM, UMR 974, 75103 Paris, France.

Background: Myositis is a heterogeneous group of muscular auto-immune diseases with clinical and pathological criteria that allow the classification of patients into different sub-groups. Inclusion body myositis is the most frequent myositis above fifty years of age. Diagnosing inclusion body myositis requires expertise and is challenging. Read More

Clin Ter 2019 Jan-Feb;170(1):e55-e60

Department of Clinical and Experimental Medicine, University of Pisa, Italy.

The chemokine monokine induced by interferon (IFN)-γ (MIG) is expressed in idiopathic inflammatory myopathies muscle. Abundant expression of MIG was observed on macrophages and T cells surrounding and invading non-necrotic muscle fibers in polymyositis and in inclusion-body myositis and in T cells in perimysial infiltrates of dermatomyositis. MIG is also localized to blood vessel endothelial cells in all inflammatory and normal muscle tissues and it exerts its biological effects mainly via binding to the chemokine (C-X-C motif) receptor (CXCR)3. Read More

Ann Rheum Dis 2019 May 13;78(5):657-662. Epub 2019 Feb 13.

The National Institute for Health Research Manchester Musculoskeletal Biomedical Research Centre, Manchester University Hospitals NHS FoundationTrust, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.

Objectives: With the tools available currently, confirming the diagnosis of inclusion body myositis (IBM) can be difficult. Many patients are initially misdiagnosed with polymyositis (PM). In this observational study at a UK adult neuromuscular centre, we investigated whether amyloid positron emission tomography could differentiate between IBM and PM. Read More

Lab Invest 2019 Feb 11. Epub 2019 Feb 11.

Department of Pathology, Case Western Reserve University, Cleveland, OH, USA.

Inclusion body myositis (IBM) is the most common cause of primary myopathy in individuals aged 50 years and over, and is pathologically characterized by protein aggregates of p62 and mislocalized cytoplasmic TDP-43, as well as mitochondrial abnormalities in affected muscle fibers. Our recent studies have shown the accumulation of TDP-43 in mitochondria in neurons from patients with amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD), and revealed mitochondria as critical mediators of TDP-43 neurotoxicity. In this study, we investigated the association between mitochondria and TDP-43 in biopsied skeletal muscle samples from IBM patients. Read More

Nucl Med Commun 2019 Apr;40(4):377-382

Nuclear Medicine Department, Lady Davis Institute, Jewish General Hospital.

Background: To compare the performance of fluorine-18-fluorodeoxyglucose (F-FDG) PET/computed tomography (CT) and conventional tests for cancer screening in autoimmune inflammatory myopathy (AIM) patients.

Patients And Methods: We carried out a retrospective cohort study of AIM patients from one academic center in Montreal, Canada, classified using myositis-specific antibodies, who underwent F-FDG PET/CT between April 2005 and February 2018 and were followed up on average 3.5±2. Read More

Gerontology 2019 Jan 14:1-13. Epub 2019 Jan 14.

Department of Exercise Biochemistry, Korea National Sport University, Seoul, Republic of Korea,

Background: Mitochondrial dysfunction is implicated in the pathogenesis of multiple muscular diseases, including sporadic inclusion body myositis (s-IBM), the most common aging-related muscle disease. However, the factors causing mitochondrial dysfunction in s-IBM are unknown.

Objective: We hypothesized that resistance exercise (RE) may alleviate muscle impairment by improving mitochondrial function via reducing amyloid-beta (Aβ) accumulation. Read More

Autoimmun Rev 2019 Mar 11;18(3):293-305. Epub 2019 Jan 11.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Laboratory of Medicine, University Hospitals Leuven, Leuven, Belgium. Electronic address:

Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by immune-mediated muscular lesions that may be associated with extra-muscular manifestations involving skin, lungs, heart or joints. Four main groups of IIM can be distinguished: dermatomyositis (DM), overlap myositis including mainly anti-synthetase syndrome (ASS), immune mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). Myositis-specific autoantibodies (MSA) are increasingly recognized as valuable tools for diagnosis, classification and prognosis of IIM. Read More

Muscle Nerve 2019 Apr 17;59(4):478-481. Epub 2019 Feb 17.

Department of Neurology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Introduction: Inclusion body myositis (IBM) can have clinical and electrodiagnostic features similar to other neuromuscular diseases, making it a diagnostic challenge. This prospective study was designed to determine the accuracy of forearm ultrasound for IBM.

Methods: Sixty adults were recruited (15 with IBM, 15 with amyotrophic lateral sclerosis [ALS], 15 with other myopathies, and 15 healthy controls), and each underwent ultrasound of the bilateral forearms (imaging the flexor digitorum profundus and flexor carpi ulnaris muscles). Read More

Biomolecules 2019 01 7;9(1). Epub 2019 Jan 7.

Neuromuscular Reference Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium.

The sporadic form of inclusion body myositis (IBM) is the most common late-onset myopathy. Its complex pathogenesis includes degenerative, inflammatory and mitochondrial aspects. However, which of those mechanisms are cause and which effect, as well as their interrelations, remain partly obscured to this day. Read More

Curr Treatm Opt Rheumatol 2018 15;4(4):299-315. Epub 2018 Sep 15.

3Division of Rheumatology, Department of Medicine, Karolinska Institutet and Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden.

Purpose Of Review: The purpose of this review was to give an update on treatment modalities for patients with idiopathic inflammatory myopathies, or shortly myositis, excluding the subgroup inclusion body myositis, based on a literature survey on therapies used in myositis. Few controlled trials have been performed in patients with myositis; therefore, we also included a summary of open-label trials, case series, and case reports.

Recent Findings: Glucocorticoid (GC) in high doses is still the first-line treatment of patients with myositis. Read More

Curr Treatm Opt Rheumatol 2018 23;4(4):289-298. Epub 2018 Nov 23.

Department of NVS, Huddinge, Karolinska Institutet and Department of Medicine, Karolinska Institutet, Solna and Function Area Occupational Therapy and Physical Therapy, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

Purpose Of The Review: A growing body of evidence supports exercise as a very important part of the treatment for adult patients with idiopathic inflammatory myopathies (IIM). This review mainly focuses on exercise studies published during the last 2 years in adult myositis.

Recent Findings: During the last couple of years, new publications present further evidence for intensive endurance exercise as an anti-inflammatory treatment inducing muscle growth and improving mitochondrial function compared a non-exercising control group. Read More

Cardiol Rev 2019 May/Jun;27(3):131-137

From the Division of Rheumatology, Allergy and Immunology, New York Medical College/Westchester Medical Center, Valhalla, NY.

Idiopathic inflammatory myopathies are a group of autoimmune diseases that are characterized by muscle inflammation resulting in elevated muscle enzyme release and distinctive biopsy findings. This group of conditions includes polymyositis, dermatomyositis, inclusion body myositis, and necrotizing autoimmune myopathy. Although they have many similarities, the inflammatory myopathies differ in their clinical, pathological, and treatment realms. Read More

Neuromuscul Disord 2019 Jan 9;29(1):39-47. Epub 2018 Nov 9.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Granulomatous myopathies are etiologically heterogeneous myopathies, pathologically characterized by the presence of intramuscular granulomas. Treatment outcomes are variable. We aimed to identify prognostic factors of treatment outcomes in myopathies featuring non-caseating granulomas. Read More

Methods Mol Biol 2019 ;1901:89-94

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Sporadic inclusion body myositis (sIBM) is a chronic and progressive inflammatory myopathy that is the commonest among population over 50s. Recently, autoantibodies against cytosolic 5'-nucleotidase 1A (cN1A) have been identified in plasma and serum samples from patients with sIBM. So far, various methods have been established to detect the anti-cN1A autoantibodies, which showed a clinical utility of detection of the autoantibodies in the diagnosis of sIBM. Read More

Rheumatol Int 2018 Dec 8. Epub 2018 Dec 8.

Division of Histology and Embryology, Department of Human Morphology and Embryology, Wroclaw Medical University, Chałubińskiego Street 6a, 50-368, Wrocław, Poland.

Sporadic inclusion body myositis (s-IBM) is a progressive, skeletal muscle disease with poor prognosis. However, establishing the final diagnosis is difficult because of the lack of clear biomarkers in the blood serum and very slow development of clinical symptoms. Moreover, most other organs function normally without any disturbance. Read More

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:35-38. Epub 2018 Nov 12.

Inserm U955 Team 10, Paris Est-Créteil University, Créteil, France.

Dysimmune and inflammatory myopathies (DIMs) affect around 14/100,000 people worldwide. Based on immupour nopathological criteria, DIMs are divided in four groups: (1) polymyositis (PM)/inclusion body myositis (IBM), (2) dermatomyositis (DM), (3) immune-mediated necrotizing myopathies (IMNM) and (iv) overlapping myositis including anti-synthetase syndrome (ASS). ASS and PM/IBM are characterized by the activation of inflammation with lymphocytic infiltrations. Read More

EMBO Mol Med 2018 12;10(12)

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland

Mitochondrial disorders (MDs) are inherited multi-organ diseases with variable phenotypes. Inclusion body myositis (IBM), a sporadic inflammatory muscle disease, also shows mitochondrial dysfunction. We investigated whether primary and secondary MDs modify metabolism to reveal pathogenic pathways and biomarkers. Read More

Front Neurol 2018 11;9:846. Epub 2018 Oct 11.

Department of Neurology and Neuromuscular Reference Center, Ghent University Hospital, Ghent, Belgium.

We recently identified osmolyte accumulators as novel biomarkers for chronic skeletal muscle inflammation and weakness, but their precise involvement in inflammatory myopathies remains elusive. In the current study, we demonstrate that, in myoblasts and myotubes exposed to pro-inflammatory cytokines or increased salt concentration, mRNA levels of the osmolyte carriers SLC5A3, SLC6A6, SLC6A12, and AKR1B1 enzyme can be upregulated. Induction of SLC6A12 and AKR1B1 was confirmed at the protein level using immunofluorescence and Western blotting. Read More

Acta Neurol Scand 2019 Feb 8;139(2):177-182. Epub 2018 Nov 8.

Neuromuscular Centre, Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.

Objectives: Inclusion body myositis is characterized by inflammatory and degenerative changes, but the temporal relation of these events is unknown.

Materials And Methods: In nineteen patients with inclusion body myositis, muscle strength was correlated with inflammatory and degenerative findings on magnetic resonance imaging (MRI) and in muscle biopsies in three different muscles (tibialis anterior, vastus lateralis, and biceps brachii). Muscle strength, measured with a handheld dynamometer, was described as percentage of muscle strength in age- and sex-matched normal individuals. Read More

Neurotherapeutics 2018 10;15(4):976-994

Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, 60 Fenwood Road, Boston, MA, 02115, USA.

The major forms of autoimmune myopathies include dermatomyositis (DM), polymyositis (PM), myositis associated with antisynthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). While each of these conditions has unique clinical and histopathological features, they all share an immune-mediated component. These conditions can occur in isolation or can be associated with systemic malignancies or connective tissue disorders (overlap syndromes). Read More

Ther Adv Musculoskelet Dis 2018 Oct 7;10(10):201-207. Epub 2018 Oct 7.

Octapharma France, Boulogne-Billancourt, France.

Immunoglobulin (Ig) therapy is used to treat a wide range of immunodeficiencies and autoimmune diseases; While, its clinical benefit has been demonstrated in several studies, Ig therapy is associated with a risk of systemic adverse effects. As such, Onset of renal impairment, including acute renal failure, osmotic nephrosis and renal insufficiency, after immunoglobulin administration is rare, but is one of the most significant concerns related to intravenous Ig use at immunomodulatory doses. However, only few studies have investigated the safety of subcutaneous Ig (SCIg) in relation to these rare conditions. Read More

Neurology 2018 Oct;91(16):760

From the Hôpital Pitié-Salpêtrière (O.L.-C., O.B.), AP-HP, Department of Internal Medicine and Clinical Immunology, Inflammation-Immunopathology-Biotherapy Department (I2B), East Paris Neuromuscular Diseases Reference Center, Inserm U974, France; Departments of Kinesiology and Surgery (F.P.), University of Montreal, B-Temia Inc. (S.B.), Québec City, and Division of Rheumatology (M.H.), Department of Medicine, Jewish General Hospital, Lady Davis Institute, Montréal, Québec, Canada.

Dtsch Med Wochenschr 2018 10 4;143(20):1472-1476. Epub 2018 Oct 4.

Ehem. Ärztlicher Leiter der Rheumaklinik und des Rheumaforschungsinstituts Aachen.

Idiopathic inflammatory myopathies (IIM) are a rare and clinically polymorphic and heterogenous group of myositis syndromes. Myositis is part of a systemic autoimmune disorder with various extramuscular manifestations affecting skin, lungs, joints, esophagus and other organ systems. Most myositis patients have autoantibodies against non organspecific antigens. Read More

J Am Acad Orthop Surg 2018 Oct 2. Epub 2018 Oct 2.

From the Department of Orthopaedic Surgery, University of Alabama at Birmingham Hospital, Birmingham, AL.

Introduction: Orthopaedic surgeons are wary of patients with neuromuscular (NM) diseases as a result of perceived poor outcomes and lack of data regarding complication risks. We determined the prevalence of patients with NM disease undergoing total joint arthroplasty (TJA) and characterized its relationship with in-hospital complications, prolonged length of stay, and total charges.

Methods: Data from the Nationwide Inpatient Sample from 2005 to 2014 was used for this retrospective cohort study to identify 8,028,435 discharges with total joint arthroplasty. Read More

Neuropathol Appl Neurobiol 2018 Sep 28. Epub 2018 Sep 28.

Department of Internal Medicine and Clinical Immunology, Paris-Sorbonne University, Public Assistance-Hospitals of Paris (APHP), Pitié-Salpêtrière University Hospital, INSERM, UMR974, Inflammation-Immunopathology-Biotherapy Department (DHU I2B), and Reference Center for Neuromuscular Pathologies, Institute of Myology, Paris, France.

Aims: To elucidate the diagnostic value of sarcoplasmic expression of myxovirus resistance protein A (MxA) for dermatomyositis (DM) specifically analyzing different DM subforms, and to test the superiority of MxA to other markers.

Methods: Immunohistochemistry for MxA and retinoic acid-inducible gene I (RIG-I) was performed on skeletal muscle samples and compared with the item presence of perifascicular atrophy (PFA) in 57 DM patients with anti-Mi-2 (n=6), -TIF1-γ (n=10), -NXP2 (n=13), -MDA5 (n=10), or -SAE (n=1) autoantibodies and with no detectable autoantibody (n=17). Among the patients, 9 suffered from cancer and 22 were juvenile-onset type. Read More

Int J Neurosci 2019 Mar 26;129(3):297-302. Epub 2018 Nov 26.

c Third Department of Neurology , G. Papanikolaou General Hospital , Thessaloniki , Greece.

Background: Sporadic inclusion body myositis is the most common inflammatory myopathy over the age of 50. The aetiopathogenesis of the disease remains unclear and to the day there is no effective treatment.

Objectives: The aim of the present review is to present the latest data on the new insights and developments in the treatment of sporadic inclusion body myositis, focusing on Bimagrumab and Alemtuzumab. Read More

Am J Med Case Rep 2018 23;6(8):157-160. Epub 2018 Aug 23.

Divisions of Cardiovascular Disease and Rheumatology, Department of Internal Medicine, State University of New York, Downstate Medical Center, Brooklyn, New York, U.S.A- 11203.

Idiopathic inflammatory myopathy (IIM) is a rare autoimmune myopathy that includes polymyositis, dermatomyositis, inclusion body myositis and autoimmune necrotizing myositis. Cardiac involvement was considered a rare occurrence in IIM however, recent reports suggests that cardiac involvement is a common feature and portends poor prognosis as it is usually encountered in advanced disease. IIM leads to myocarditis with subsequent development of myocardial fibrosis, cardiac conduction system disease and cardiomyopathy resulting in both systolic and diastolic heart failure. Read More

JAMA Neurol 2018 Dec;75(12):1528-1537

Centre de Recherche en Myologie, Unité Mixte de Recherche Scientifique 974, Université Pierre et Marie Curie, Institut National de la Santé et de la Recherche Médicale, Paris, France.

Importance: Idiopathic inflammatory myopathies are heterogeneous in their pathophysiologic features and prognosis. The emergence of myositis-specific autoantibodies suggests that subgroups of patients exist.

Objective: To develop a new classification scheme for idiopathic inflammatory myopathies based on phenotypic, biological, and immunologic criteria. Read More

Neurotherapeutics 2018 10;15(4):995-1005

Neuromuscular Medicine Division, Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, 66103, USA.

Inclusion body myositis is the most common acquired myopathy after the age of 50. It is characterized by progressive asymmetric weakness predominantly affecting the quadriceps and/or finger flexors. Loss of ambulation and dysphagia are major complications of the disease. Read More

Exp Neurol 2018 11 18;309:169-180. Epub 2018 Aug 18.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan.

Muscle histology of sporadic inclusion body myositis (sIBM) demonstrates inflammatory findings and degenerative features including accumulation of TAR DNA-binding protein of 43 kDa (TDP-43). However, whether sarcoplasmic accumulation of TDP-43 is a primary trigger of muscle degeneration or a secondary event resulting from muscle degeneration in the pathophysiology of sIBM remained unclear. Our study aimed to discover whether muscle-dominant expression of TDP-43 is a primary cause of muscle degeneration. Read More

Lancet Neurol 2018 Sep;17(9):816-828

Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Inflammatory myopathies, collectively known as myositis, are heterogeneous disorders characterised by muscle inflammation, and frequently accompanied by extramuscular manifestations that affect the skin, lung, and joints. Patients with inflammatory myopathies were previously classified as having dermatomyositis if characteristic rashes accompanied the muscle involvement, and as having polymyositis if no rashes were present. Five main types of inflammatory myopathies are now widely recognised: dermatomyositis, immune-mediated necrotising myopathy, sporadic inclusion-body myositis, overlap myositis (including antisynthetase syndrome), and polymyositis. Read More

RMD Open 2018 25;4(2):e000661. Epub 2018 Jul 25.

Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium.

Objective: As rheumatoid factor (RF) and anticitrullinated protein antibodies (ACPAs) are not routinely tested in idiopathic inflammatory myositis (IIM), little is known about their prevalence and clinical implications in this patient group. In antisynthetase syndrome (ASS), presence of ACPA is reportedly associated with more severe and erosive arthritis. We aim to retrospectively determine the prevalence of RF and ACPA in a cross-sectional cohort of 121 patients diagnosed with IIM and to assess clinical associations. Read More

Biochem Biophys Res Commun 2018 09 9;503(4):2770-2777. Epub 2018 Aug 9.

Institute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, 91054, Erlangen, Germany. Electronic address:

Heterozygous missense mutations in the human VCP gene cause inclusion body myopathy associated with Paget disease of bone and fronto-temporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). The exact molecular mechanisms by which VCP mutations cause disease manifestation in different tissues are incompletely understood. In the present study, we report the comprehensive analysis of a newly generated R155C VCP knock-in mouse model, which expresses the ortholog of the second most frequently occurring human pathogenic VCP mutation. Read More

Prog Lipid Res 2018 10 9;72:1-17. Epub 2018 Aug 9.

Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Paediatrics & Child Heath, Faculty of Medicine, University of Sydney, Camperdown, NSW, Australia. Electronic address:

Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. Read More

Neuromuscul Disord 2018 Sep 27;28(9):778-786. Epub 2018 Jun 27.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States. Electronic address:

Inclusion body myopathy (IBM) associated with Paget disease of the bone and frontotemporal dementia or IBMPFD is an autosomal dominant degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. We aim to establish a detailed clinical phenotype of VCP disease amongst 35 (28 affected individuals, 7 presymptomatic gene carriers) individuals versus 14 unaffected first-degree relatives in 14 families to establish useful biomarkers for IBMPFD and identify the most meaningful tests for monitoring disease progression in future clinical trials. Comprehensive studies included the Inclusion Body Myositis Functional Rating Scale (IBMFRS) and fatigue severity scale questionairres, strength measurements using the Manual Muscle Test with Medical Research Council (MRC) scales, hand-held dynamometry using the microFET and Biodex dynamometers, 6 minute walk test (6MWT), and pulmonary function studies. Read More

Adv Clin Exp Med 2018 Oct;27(10):1453-1457

Department of Histology and Embryology, Faculty of Medicine, Wroclaw Medical University, Poland.

Sporadic inclusion body myositis (sIBM) is a rare yet increasingly prevalent disease and the most common cause of inflammatory myopathy in people over the age of 50. The exact cause of the disorder is unknown. In sIBM 2 processes, first autoimmune and the other degenerative, parallelly occur in the muscle cells. Read More