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Total 155 results found since Jan 2013.

Juvenile dermatomyositis, clinical manifestations and outcome in an Iranian cohort
Conclusions This study was in parallel with other reviews except for calcinosis which was observed with lower frequency. It is suggested that delay in diagnosis and treatment may be associated with calcinosis.
Source: Egyptian Pediatric Association Gazette - November 2, 2014 Category: Pediatrics Source Type: research

Regional Ischemic Immune Myopathy: A Paraneoplastic Dermatomyopathy
AbstractNecrosis and regeneration of scattered muscle fibers are common features of many active acquired and immune myopathies. We studied a series of patients with acquired myopathies with an unusual pattern of regional, rather than scattered, muscle fiber necrosis and regeneration. Retrospective review of records of 7 patients with acquired myopathies having regional muscle fiber necrosis on muscle biopsy. Clinical features of patients included proximal symmetric weakness in arms and legs with a subacute onset (100%) beginning at ages between 41 and 92 years, with dysphagia (83%), myalgias (100%), skin rash (67%), and as...
Source: Journal of Neuropathology and Experimental Neurology - November 18, 2014 Category: Neurology Tags: Original Articles Source Type: research

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.
Abstract A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of motor milestones and difficulties with social interaction at pre-school age. Muscle biopsy showed no myopathic or dystrophic features, but 90% COX negative fibres and ragged blue fibres. Respiratory chain enzyme analysis in muscle showed a combined deficiency and mitochondrial DNA sequencing revealed the presence of an m.4450G>A mutation in the MT-TM gene encoding the tRNA for methionine. The mutation was only detected in mtDNA extracted from mus...
Source: European Journal of Paediatric Neurology - November 1, 2014 Category: Neurology Authors: Born AP, Duno M, Rafiq J, Risom L, Wibrand F, Ostergaard E, Vissing J Tags: Eur J Paediatr Neurol Source Type: research

Small‐nerve‐fiber pathology in critical illness documented by serial skin biopsies
Conclusion: Serial IENFD measurements confirmed the development of small‐fiber sensory involvement in the acute phase of critical illness. Muscle Nerve, 2015
Source: Muscle and Nerve - May 29, 2015 Category: Internal Medicine Authors: Miroslav Skorna, Roman Kopacik, Eva Vlckova, Blanka Adamova, Milena Kostalova, Josef Bednarik Tags: Research Article Source Type: research

Progressive Myoclonus Epilepsies
Semin Neurol 2015; 35: 293-299DOI: 10.1055/s-0035-1552620The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht–Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis o...
Source: Seminars in Neurology - June 10, 2015 Category: Neurology Authors: Kälviäinen, Reetta 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

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

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

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

Sarcoidosis. Martires, Kathryn; Shvartsbeyn, Marianna; Brinster, Nooshin; Ramachandran, Sarika; Franks Jr., Andrew G
We present a 28-year-old man with a one-year history of cutaneous lesions in old scars and tattoos with concomitant subcutaneous nodules and myopathy. A skin biopsy specimen showed cutaneous sarcoidosis. We discuss the multiple aspects of this case, which represent unique presentations of this systemic disease as well as review isomorphic and isotopic responses.
Source: Dermatology Online Journal - January 1, 2015 Category: Dermatology 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

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

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