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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 Dec;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 2018 Oct 22. Epub 2018 Oct 22.

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 Oct;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 Oct 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 2018 Nov 26:1-6. 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 Oct;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 Nov 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

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

Curr Opin Rheumatol 2018 Nov;30(6):644-649

Faculty of Biology Medicine and Health, Centre for Musculoskeletal Research, School of Biological Sciences, The University of Manchester, Manchester.

Purpose Of Review: To describe recent advancements in diagnostic and therapeutic approaches to inclusion body myositis (IBM).

Recent Findings: Our understanding of the implications of anti-cytosolic 5'-nucleotidase 1A autoantibody status in IBM and other diseases is increasing. Muscle imaging using magnetic resonance techniques and ultrasound is increasingly being performed and characteristic patterns of muscle involvement may help with diagnosis. Read More

Curr Rheumatol Rep 2018 Aug 3;20(9):56. Epub 2018 Aug 3.

UPMC Univ Paris 06, INSERM UMRS_974, Center of Research in Myology, AP-HP, Department of Internal Medicine & Clinical Immunology, DHU I2B, Pitié-Salpêtrière Hospital, Sorbonne Université, F-75013, Paris, France.

Purpose Of Review: This review provides an overview of the potential pathogenic roles of anti-SRP and anti-HMGCR in IMNM over the past 5 years.

Recent Findings: Idiopathic inflammatory myopathies (IIM) are a group of acquired autoimmune disorders that mainly affect the skeletal muscle tissue. Classification criteria of IIM are comprised of polymyositis, dermatomyositis, inclusion body myositis and immune-mediated necrotizing myopathies. Read More

Neurol India 2018 Jul-Aug;66(4):1062-1066

Department of Rheumatology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Aim: To study C4d expression as a marker of complement activation in the diagnosis of dermatomyositis.

Material And Methods: Muscle biopsies from patients diagnosed as definite dermatomyositis (10), nonspecific myositis associated with connective tissue disease (9), necrotizing autoimmune myositis (1), inclusion body myositis (1), and normal muscle (1) according to European Neuromuscular criteria 2004 were studied for C4d expression and capillary loss on CD 34 immunohistochemistry.

Results: C4d was expressed in all biopsies of definite dermatomyositis in the perimysial vessels and in 3/10 endomysial capillaries corresponding to capillary loss on CD 34. Read More

Curr Treat Options Neurol 2018 Jul 23;20(9):37. Epub 2018 Jul 23.

Department of Neurology, University of California, Irvine, CA, USA.

Purpose Of Review: The purpose of this review is to update the audience on the recent progress in the treatment of idiopathic inflammatory myopathies, highlighting a myriad of treatment trials aimed at slowing down progression of muscle weakness and/or skin involvement in idiopathic inflammatory myopathies.

Recent Findings: Myositis continues to be an active area of clinical and translational research. Through the work of a number of investigators, we now have a much better understanding of the pathogenesis underlying the various myositides. Read More

Muscle Nerve 2018 Jul 20. Epub 2018 Jul 20.

Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Introduction: It is unclear whether quantitating muscle endurance adds nonredundant information useful for the care of patients with muscular disease.

Methods: Records were retrospectively reviewed for all Johns Hopkins Myositis Center patients with a muscle endurance assessment (n = 128, 226 patient-visits). Muscle endurance and strength were quantitated with the Myositis Functional Index-2 (FI2) and manual muscle testing (MMT), respectively. Read More

Muscle Nerve 2018 Oct;58(4):E25-E26

Department of Neurology, Duke School of Medicine, Durham, North Carolina, USA.

Neuromuscul Disord 2018 Aug 18;28(8):660-664. Epub 2018 Jun 18.

Department of Research, Hospital for Special Care, New Britain, CT, USA.

Sporadic inclusion body myositis (IBM) is the most common acquired myopathy affecting patients over age 50. The discovery of an autoantibody directed against a 43-44 kD protein (anti-cytosolic-5'-nucleotidase 1A or anti-cN1A) has provided support for the hypothesis of an immune-mediated pathogenesis. Previous studies have reported variable test sensitivity and specificity, and inconsistent results on the predictive value. Read More

Front Neurol 2018 26;9:456. Epub 2018 Jun 26.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application. We retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. Read More

Curr Rheumatol Rep 2018 Jun 28;20(8):52. Epub 2018 Jun 28.

Neuromuscular Division, Department of Neurology and the Institute for Neurological Discoveries, The University of Kansas Medical Center, 3901 Rainbow Blvd, Mail Stop 2012, Kansas City, KS, 66160, USA.

Purpose Of Review: While sporadic inclusion body myositis (sIBM) is the most common acquired muscle disease after age 50, the pathogenesis of this disease is still poorly understood. In this review, we discuss our current state of knowledge in sIBM and provide an update on our current understanding of its pathophysiology and management.

Recent Findings: Lines of evidence in support of an inflammatory pathogenesis include inflammatory infiltrates in the target organ, NFκB activation, cytokine response, MHC I upregulation, and cN1A antibody. Read More

Front Immunol 2018 5;9:1200. Epub 2018 Jun 5.

Department of Biomolecular Chemistry, Radboud Institute for Molecular Life Sciences and Institute for Molecules and Materials, Radboud University, Nijmegen, Netherlands.

Introduction: Autoantibodies to cytosolic 5'-nucleotidase 1A (cN-1A; NT5C1A) have a high specificity when differentiating sporadic inclusion body myositis from polymyositis and dermatomyositis. In primary Sjögren's syndrome (pSS) and systemic lupus erythematosus (SLE) anti-cN-1A autoantibodies can be detected as well. However, various frequencies of anti-cN-1A reactivity have been reported in SLE and pSS, which may at least in part be explained by the different assays used. Read More

Nucleus 2018 ;9(1):398-409

a Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit , Fondazione IRCCS Istituto Neurologico "Carlo Besta" , Milan , Italy.

Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading to chronic inflammation, myofiber necrosis and fibrosis, is still unknown. Read More

Autoimmun Rev 2018 Aug 6;17(8):746-754. Epub 2018 Jun 6.

Department of Neurology, Ghent University and Ghent University Hospital, C. Heymanslaan 10, 9000 Gent, Belgium.

Dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM), immune mediated necrotizing myopathy (IMNM) and overlap myositis (OM) are classified as inflammatory myopathies (IM) with involvement of autoimmune features such as autoreactive lymphocytes and autoantibodies. Autoimmunity can be defined as a loss in self-tolerance and attack of autoantigens by the immune system. Self-tolerance is achieved by a group of immune mechanisms occurring in central and periphal lymphoid organs and tissues, called immune checkpoints, that work in synergy to protect the body from harmful immune reactions. Read More

Curr Med Res Opin 2018 Sep 5;34(9):1679-1685. Epub 2018 Jul 5.

c Novartis Pharmaceuticals Corporation , New York , NY , USA.

Objective: This study identifies the health care costs and utilization, as well as comorbidities, in a Medicare population of inclusion body myositis (IBM) patients.

Methods: Medicare patients aged ≥65 years with a diagnosis claim for IBM were identified and matched to a cohort of non-IBM patients based on age, sex, race, calendar year and census region. Generalized linear models were used to estimate health care costs and utilization during the follow-up period. Read More

J Neuromuscul Dis 2018 ;5(2):109-129

Department of Neurology, Muscle Immunobiology Group, Neuromuscular Center, University MedicalCenter Göttingen, Göttingen, Germany.

Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with myositis (overlap myositis, OM) including anti-synthetase syndrome (ASS), and inclusion body myositis (IBM). Whereas DM occurs in children and adults, all other forms of myositis mostly develop in middle aged individuals. Apart from a slowly progressive, chronic disease course in IBM, patients with myositis typically present with a subacute onset of weakness of arms and legs, often associated with pain and clearly elevated creatine kinase in the serum. Read More

Biomed Res Int 2018 29;2018:5069042. Epub 2018 Jan 29.

Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in association with inflammation. The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, -synuclein, and TDP-43, in 18 patients with sIBM. Read More

Scand J Rheumatol 2018 09 18;47(5):400-409. Epub 2018 May 18.

b Department of Clinical Research , University of Southern Denmark , Odense , Denmark.

Objectives: To investigate the effect of 12 weeks of low-load blood-flow restricted resistance (BFR) training on self-reported and objective physical function, and maximal muscle strength in patients with sporadic inclusion body myositis (sIBM).

Method: Twenty-two patients with sIBM were randomized into a training group (BFR group) or a non-exercising control group, according to CONsolidated Standards Of Reporting Trials (CONSORT) guidelines. The BFR group performed 12 weeks of BFR training twice per week. Read More

Acta Myol 2017 Dec 1;36(4):203-206. Epub 2017 Dec 1.

1 Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.

VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Read More

Acta Myol 2017 Dec 1;36(4):191-198. Epub 2017 Dec 1.

Center for Neuromuscular Diseases "Paolo Peirolo", Department of Neuroscience "Rita Levi Montalcini", University of Turin, Italy.

Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Read More

Neurol India 2018 May-Jun;66(3):767-771

Department of Neurology, Institute of Neurological Sciences, Care Hospital, Banjara Hills, Hyderabad, Telangana, India.

Background: Bohan and Peter criteria are widely used for the diagnosis of idiopathic inflammatory myopathies (IIMs). Recently, European Neuromuscular Center (ENMC) formulated criteria to identify subgroups of IIMs.

Aim: To compare the two diagnostic criteria in adult IIMs. Read More

Clin Exp Rheumatol 2018 Nov-Dec;36(6):996-1002. Epub 2018 May 8.

Johns Hopkins University, Applied Physics Laboratory, Laurel, MD, USA.

Objectives: Imaging plays a role in myositis assessment by detecting muscle changes indicative of pathology. This study was conducted to determine the ultrasonographic pattern of muscle involvement in patients with inclusion body myositis (IBM) through an assessment of muscle echointensity.

Methods: Sixty-two individuals were consecutively studied, 18 with IBM, 16 with polymyositis or dermatomyositis and 28 normal controls. Read More

Ultrasound Med Biol 2018 07 26;44(7):1423-1432. Epub 2018 Apr 26.

Institute of Myology, Paris, France.

Degenerative muscle changes may be associated with changes in muscle mechanical properties. Shear wave elastography (SWE) allows direct quantification of muscle shear modulus (MSM). The aim of this study was to evaluate the feasibility and reliability of SWE in the severely disordered muscle as observed in inclusion body myositis. Read More

J Neurol 2018 Jul 18;265(7):1717-1725. Epub 2018 Apr 18.

Southmead Hospital, Bristol, UK.

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. Read More

Mod Rheumatol 2018 Nov 9;28(6):913-921. Epub 2018 May 9.

a Department of Rheumatology, Graduate School of Medical and Dental Sciences , Tokyo Medical and Dental University (TMDU) , Tokyo , Japan.

Idiopathic inflammatory myopathies (IIMs) are heterogeneous disorders that affect the skeletal muscles. Polymyositis, dermatomyositis, and inclusion body myositis are major IIM subsets. Immune-mediated necrotizing myopathy became recognized as a potentially new IIM subset. Read More

Muscle Nerve 2018 Sep 17;58(3):456-459. Epub 2018 May 17.

Neurological Clinic Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

Introduction: The aim of this study was the label-free identification of distinct myopathological features with coherent anti-Stokes Raman scattering (CARS) imaging, which leaves the sample intact for further analysis.

Methods: The protein distribution was determined without labels by CARS at 2,930 cm and was compared with the results of standard histological staining.

Results: CARS imaging allowed the visualization of glycogen accumulation in glycogen storage disease type 5 (McArdle disease) and of internal nuclei in centronuclear myopathy. Read More

Acta Neuropathol Commun 2018 Apr 13;6(1):28. Epub 2018 Apr 13.

Institute of Academic Medicine (IAM) in the Houston Methodist Research Institute (HMRI), Houston Methodist Hospital, 6565 Fannin Street, Houston, TX, 77030, USA.

Muscle atrophy with weakness is a core feature of amyotrophic lateral sclerosis (ALS) that has long been attributed to motor neuron loss alone. However, several studies in ALS patients, and more so in animal models, have challenged this assumption with the latter providing direct evidence that muscle can play an active role in the disease. Here, we examined the possible role of cell autonomous pathology in 148 skeletal muscle samples from 57 ALS patients, identifying phosphorylated TAR DNA-binding protein (pTDP-43) inclusions in the muscle fibers of 19 patients (33. Read More

Nat Rev Rheumatol 2018 May 12;14(5):269-278. Epub 2018 Apr 12.

Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

The idiopathic inflammatory myopathies (IIMs; also known as myositis) are a heterogeneous group of disorders in which a common feature is chronic inflammation of skeletal muscle, leading to muscle weakness. Other organs are frequently affected in IIMs, such as the skin, joints, lungs, gastrointestinal tract and heart, contributing to morbidity and mortality. Currently, IIMs are most often subclassified into polymyositis, dermatomyositis and inclusion body myositis, but this subclassification has limitations as these subgroups often have overlapping clinical and histopathological features, and outcomes vary within the subgroups; additionally, subgroups without considerable myopathy are not included. Read More

Brain Nerve 2018 Apr;70(4):449-457

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

Sporadic inclusion body myositis (sIBM) is a chronically progressing inflammatory myopathy most common in the aged population. Asymmetric muscle weakness and waste of the quadriceps and finger and wrist flexor muscles are characteristic features of sIBM. Histological findings suggest the involvement of a crosstalk of inflammatory and myodegenerative mechanisms in the pathogenesis of sIBM. Read More