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Total 155 results found since Jan 2013.

Clinical Dermatomyositis Associated with Anti-HMG-CoA Reductase Antibody Positive Immune Mediated Necrotizing Myopathy: A Case Report (P2.125)
Conclusions:Statins have been previously linked to clinical dermatomyositis. Here we report the first known case of anti-HMGCR antibody confirmed immune mediated necrotizing myopathy with clinical features of dermatomyositis, yet pathologic findings consistent with necrotizing myopathy.Disclosure: Dr. Lavian has nothing to disclose. Dr. Mozaffar has received personal compensation for activities with Sanofi Genzyme, Grifols, Amicus, Biomarin, Idera Pharmaceuticals and Ultragenyx. Dr. Mozaffar has received research support from Cytokinetics, Alexion, Amicus, Biomarin, Grifols, GlaxoSmithKline, Ultragenyx, and Novartis. Dr. G...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Lavian, M., Mozaffar, T., Goyal, N. Tags: Myopathies & amp;amp; Myasthenia Gravis II Source Type: research

Dermatomyositis Leading to Necrotizing Vasculitis: A Perfect Response to Applied Therapy.
Authors: Akbaryan M, Darabi F, Soltani Z Abstract Dermatomyositis is an idiopathic inflammatory myopathy that cause skin and muscle complications. The ethiology is not understood well yet. Released cytokines including interferon and interleukins are suggested to make inflammatory responses in the skin or muscle. Muscle weakness and skin lesions including heliotrope rash, shawl sign and Gottron's papules are the most common symptoms. A biopsy (muscle or skin) is always the most reliable method for diagnosis. Corticosteroids in association with immunosuppressive agents are used as standard treatment. The patient was ...
Source: International Journal of Biomedical Science - February 15, 2017 Category: Biomedical Science Tags: Int J Biomed Sci Source Type: research

A study of acute muscle dysfunction with particular reference to dengue myopathy
Conclusion: Dengue infection and hypokalemia due to various causes are the most common causes of acute myopathy and are associated with rapid and complete recovery within 1 month. Shorter duration of illness, higher MRC sum score, better disability status at presentation, lower serum CK correlate with better outcome. Biopsy was decisive in <20% cases; hence, it is not primary investigation in acute myopathy.
Source: Annals of Indian Academy of Neurology - February 8, 2017 Category: Neurology Authors: Rajesh Verma Vikram V Holla Vijay Kumar Amita Jain Nuzhat Husain Kiran Preet Malhotra Ravindra Kumar Garg Hardeep Singh Malhotra Praveen Kumar Sharma Neeraj Kumar Source Type: research

Juvenile dermatomyositis: a tertiary center experience
This study aimed to evaluate demographic and clinical features, laboratory data, treatment modalities, and outcome of patients with JDM at a referral pediatric rheumatology center in Turkey. We retrospectively reviewed medical records of patients diagnosed with JDM between the years 2003 –2016 at the Pediatric Rheumatology Department Cerrahpasa Medical Faculty. A total of 50 patients (35 females), median age at the onset 6.1 ± 4.1 years, were identified. Mean follow-up period was 74.5 ± 49.7 months. Presenting clinical symptoms included heliotrope rash (100%), Gottron papu le (96%), muscle weakness (90%), erythro...
Source: Clinical Rheumatology - January 4, 2017 Category: Rheumatology Source Type: research

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
• Two brothers with LAMA2-related limb girdle muscular dystrophy diagnosed by exome.• Laminin α2 was partially deficient on skin biopsy immunoanalysis.• Muscle MRI showed concentric atrophy, similar to pattern seen in Bethlem Myopathy.• Brain MRI showed globi pallidi signal hyperintensity a nd diffuse white matter changes.• One patient had concomitant dilated cardiomyopathy.
Source: Neuromuscular Disorders - November 2, 2016 Category: Neurology Authors: Elizabeth Harris, Meriel McEntagart, Ana Topf, Hanns Lochm üller, Kate Bushby, Caroline Sewry, Volker Straub Tags: Case report Source Type: research

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum
In this report we describe the clinical features and evolution, as well as MRI, muscle biopsy and skin fibroblasts culture's findings of a group of 8 patients carrying mutations in COL6A1, COL6A2 or COL6A3 genes with a long follow up duration.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: S. Cruz, S. Figueroa-Bonaparte, E. Gallardo, A. de Becdeli èvre, C. Gartioux, V. Allamand, P. Piñol, M. Rodríguez-García, C. Jiménez-Mallebrera, J. Llauger, L. González-Rodríguez, E. Cortés-Vicente, I. Illa, J. Díaz-Manera Source Type: research

Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits
If skin rash is frequently observed in autoimmune myopathies (AIM), oedema of the upper limbs is unusual. Nevertheless, the rare case reports or series (n  = 4) of myositis associated with oedema described so far suggest that this association is mainly observed in severe and refractory dermatomyositis (DM), sometimes associated with cancers. We aimed to determine if ‘oedematous myositis’ is a homogeneous subtype of AIM based on clinical and hi stological characteristics. All patients from our centre with inflammation on muscle biopsy suffering from upper limbs oedema were enrolled between 2007 and 2015.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: Y. Allenbach, M. Duchesne, S. L éonard-Louis, T. Maisonobe, O. Dubourg, B. Hervier, O. Benveniste Source Type: research

Combined Skin and Muscle Biopsy for Suspected Dermatomyositis (P3.124)
CONCLUSION: Combined skin and muscle biopsy is the recommended approach to increase the diagnostic yield for dermatomyositis.Disclosure: Dr. Shaefer has nothing to disclose. Dr. Qaiser has nothing to disclose. Dr. Kazamel has nothing to disclose. Dr. Oh has nothing to disclose. Dr. Alsharabati has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Shaefer, A., Qaiser, F., Kazamel, M., Oh, S., Alsharabati, M. Tags: Acquired Muscle Disorders: Clinical and Pathological Aspects Source Type: research

Focal and Patchy Perifasicular Involvement Differentiates the Anti-Jo1 Inflammatory Myopathy (IM) from Dermatomyositis (DM) (P3.125)
Conclusions: Perimysial fragmentation and necrotizing perifascicular myositis are features that have been described by others to differentiate anti-jo1 IM form DM. In addition we found that the changes in muscle biopsies of patients with Jo1-IM are focal and patchy (affect some fibers, where others are spared at the same level) and tend to affect the most superficial layers of the fascicles. Muscle fiber necrosis and regeneration is seen in acute stages, while muscle fiber atrophy develop later in the course of the disease. This pattern of perifascicular involvement can help differentiate anti-jo1 IM from DM. Disclosure: D...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Chahin, N., Karam, C. Tags: Acquired Muscle Disorders: Clinical and Pathological Aspects Source Type: research

Erythromelalgia: A Novel Mutation in SCN9A Causing Chronic Neuropathic Burning Feet Syndrome without Classic Skin Findings (P5.025)
We report a case of erythromelalgia causing chronic neuropathic burning without classic skin changes. Introduction: A 43 years old African American man with a history of supposed juvenile myopathy and lactic acidosis was referred to Neurology clinic for burning feet for further diagnostic evaluation. Patient had a history of generalized muscle aches and burning in bilateral feet since childhood. Although he wanted to become a football player, the inability to tolerate shoes for a long time precluded this ambition. Gradually worsening symptoms since age 21 years (1990) eventually prompted him to seek further medical care. C...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Mankad, J., Konersman, C. Tags: Genetics of Peripheral Neuropathies Source Type: research

Meeting the challenges in the diagnosis of inflammatory myopathies.
Authors: Manie M Abstract Inflammatory myopathy (IM) is a rubric term to describe a heterogeneous group of muscle diseases typified by dermatomyositis and polymyositis. The current classifications are unsatisfactory, but IM associated with other connective tissue diseases (CTDs), such as systemic lupus erythematosus, underlying malignancy and HIV, should also be included. Although uncommon, IM should always be considered in a patient who presents with proximal weakness of gradual onset and has raised serum muscle enzymes. The diagnosis may be obvious if the patient has diagnostic skin signs such as heliotropic rash...
Source: South African Medical Journal - March 6, 2016 Category: African Health Tags: S Afr Med J Source Type: research

Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease
Conclusions: The MSAs tested for in this study are highly specific for autoimmune muscle disease and are rarely, if ever, found in patients who only have genetic muscle disease. In patients with genetic muscle disease, the presence of a MSA should suggest the possibility of a coexisting autoimmune process.
Source: Neurology Neuroimmunology and Neuroinflammation - November 19, 2015 Category: Neurology Authors: Mammen, A. L., Casciola-Rosen, L., Christopher-Stine, L., Lloyd, T. E., Wagner, K. R. Tags: All Immunology, Autoimmune diseases, All Neuromuscular Disease, Muscle disease Article Source Type: research

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
In conclusion, fibroblasts from dysferlinopathy patients and SJL mice showed attenuated membrane repair, and could be a research tool to monitor the effects of drug candidate including proteasome inhibitors on mutant dysferlin. Competing Interests The authors have declared that no competing interests exist. Correspondence The corresponding author can be contacted at cmatsuda@ncnp.go.jp.
Source: PLOS Currents Muscular Dystrophy - October 29, 2015 Category: Neurology Authors: Chie Matsuda Source Type: research

Corticosteroids in Myositis and Scleroderma
Idiopathic inflammatory myopathies (IIMs) involve inflammation of the muscles and are classified by the patterns of presentation and immunohistopathologic features on skin and muscle biopsy into 4 categories: dermatomyositis, polymyositis, inclusion body myositis, and immune-mediated necrotizing myopathy. Systemic corticosteroid (CS) treatment is the standard of care for IIM with muscle and organ involvement. The extracutaneous features of systemic sclerosis are frequently treated with CS; however, high doses have been associated with scleroderma renal crisis in high-risk patients. Although CS can be effective first-line a...
Source: Rheumatic Disease Clinics of North America - October 27, 2015 Category: Rheumatology Authors: Anna Postolova, Jennifer K. Chen, Lorinda Chung Source Type: research

Idiopathic Inflammatory Myopathies and Malignancy: a Comprehensive Review
Abstract The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of autoimmune diseases (collectively known as myositis) affecting the skeletal muscles as well as other organ systems such as skin, lungs, and joints. The primary forms of myositis include polymyositis (PM), dermatomyositis (PM), and immune-mediated necrotizing myopathy (IMNM). Patients with these diseases experience progressive proximal muscle weakness, have characteristic muscle biopsy findings, and produce autoantibodies that are associated with unique clinical features. One distinguishing feature of these patients is that they are...
Source: Clinical Reviews in Allergy and Immunology - October 1, 2015 Category: Allergy & Immunology Source Type: research