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Specialty: Neurology
Procedure: Skin Biopsy

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Total 26 results found since Jan 2013.

Anti-HMGCR myopathy overlaps with dermatomyositis-like rash: a distinct subtype of idiopathic inflammatory myopathy
ConclusionsOptimization of cutoff of anti-HMGCR antibody assays with confirmation by alternative assays can result in higher sensitivity and specificity. DM-like skin rashes and lymphocytic infiltrates were not rare in patients with anti-HMGCR myopathy. These findings suggest that while anti-HMGCR myopathy may overlap with DM-like rash, it is pathologically different from classic DM, and should be considered a distinct subgroup of IIM.
Source: Journal of Neurology - May 21, 2021 Category: Neurology Source Type: research

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types
This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.
Source: Frontiers in Neurology - January 11, 2021 Category: Neurology Source Type: research

EP.19Anti-HMGCR positive necrotizing myopathy presenting in childhood
A 12-year-old girl, previously healthy, was hospitalized because of progressive proximal weakness for a few months. CK was 17000U/L. There were only minor skin changes, but an initial muscle biopsy was reported to have changes possibly compatible with dermatomyositis. Treatment was started with prednisolone and methotrexate, without adequate improvement. A biopsy two years later did not exclude the diagnosis of a muscular dystrophy. The fast development of weakness did not however really fit clinically.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Rasmussen, A. Selvaag, S. Wallace, E. Kirkhus, E. Merckoll, E. Antal, J. Pahnke, B. Udd Source Type: research

An unusual presentation of scleromyxedema as inflammatory myopathy.
Authors: Vysakha KV, Poyuran R, Nair SS, Nair M Abstract Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflammatory myopathy. Diagnosis is suspected by the characterization of the skin lesions and clinched by skin and muscle biopsies. Here, we report a patient with scleromyxedema and myopathy with the characteristic histopathological feature of mucin deposition in skin biopsy. Her muscle biopsy showed a picture consistent with scl...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Inflammatory myopathies
We report a patient with clinical scleroderma presenting with subacute myopathy with lymphoid follicle on muscle histology. A 29-year-old female with scleroderma confirmed by clinical criteria and skin biopsy, using colchicine, presented with subacute proximal muscle weakness associated with dysphagia and dropped head without CK elevation, but EMG/NCS demonstrated myopathic findings.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: A. Silva, M. Vianna, R. Mendon ça, E. Zanoteli Source Type: research

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and atax...
Source: Brain - April 27, 2018 Category: Neurology Source Type: research

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

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

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