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Total 155 results found since Jan 2013.

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

Association of Fibrosing Myopathy in Systemic Sclerosis and Higher Mortality
ConclusionFibrosing myopathy is a unique histologic subtype of muscle disease among weak patients with SSc and is associated with significantly worse mortality compared to those with inflammation and/or necrosis on muscle biopsy.
Source: Arthritis Care and Research - October 27, 2017 Category: Rheumatology Authors: Julie J. Paik, Fredrick M. Wigley, Ami A. Shah, Andrea M. Corse, Livia Casciola ‐Rosen, Laura K. Hummers, Andrew L. Mammen Tags: Brief Report Source Type: research

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

Fibrosing myopathy in systemic sclerosis associates with higher mortality
Conclusion: Fibrosing myopathy is a unique histological subtype of muscle disease among weak patients with SSc and is associated with significantly worse mortality compared to those with inflammation and/or necrosis on muscle biopsy. This article is protected by copyright. All rights reserved.
Source: Arthritis Care and Research - May 23, 2017 Category: Rheumatology Authors: Julie J. Paik, Fredrick M. Wigley, Ami A. Shah, Andrea M. Corse, Livia Casciola ‐Rosen, Laura K. Hummers, Andrew L. Mammen Tags: Brief Report 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

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

Generalized Dilative Arteriopathy without Myopathy: A New Phenotype of Pompe Disease (P6.256)
Conclusion. This case demonstrates that LOPD may present as an isolated generalized dilative arteriopathy with repeated kidney and brain infarcts, and no myopathy. Pompe disease should be systematically screened in patients with generalized dilative arteriopathy.Disclosure: Dr. Echaniz-Laguna has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc. Dr. Bataillard has nothing to disclose. Dr. Quenardelle has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Echaniz-Laguna, A., Bataillard, M., Quenardelle, V. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

An unusual case of inflammatory necrotizing myopathy and neuropathy with pipestem capillaries
Anil Kumar B Patil, AT Prabhakar, Ajith Sivadasan, Mathew Alexander, Geeta ChackoNeurology India 2015 63(1):72-76Necrotizing myopathy with pipestem capillaries is a form of chronic inflammatory myopathy, with histopathology showing necrotizing myopathy, minimal cellular infiltration, and microangiopathy. A 30-year-old female presented with progressive limb weakness of 6 months, with skin pigmentation and Raynaud's phenomenon. Serum creatine phosphokinase was 3990 u/L. Muscle biopsy showed necrotic fibers, focal sparse perivascular inflammation/perifascicular atrophy, endomysial/epimysial vessel wall thickening with ...
Source: Neurology India - March 4, 2015 Category: Neurology Authors: Anil Kumar B PatilAT PrabhakarAjith SivadasanMathew AlexanderGeeta Chacko Source Type: research

Dermatomyositis-like syndrome revealing statin-induced necrotizing autoimmune myopathy with anti-HMGCR antibodies.
CONCLUSION: Dermatologists must be able to recognise this rare entity of "pseudo-dermatomyositis" and then discontinue statin intake if present and carry out further investigations consisting of muscle biopsy and serological tests. PMID: 30929872 [PubMed - as supplied by publisher]
Source: Annales de Dermatologie et de Cenereologie - March 27, 2019 Category: Dermatology Authors: Merlant M, Fite C, Kottler D, Maisonobe L, Dossier A, Deschamps L, Descamps V Tags: Ann Dermatol Venereol Source Type: research

Pulmonary Pathologic Manifestations of Anti-Alanyl-tRNA Synthetase (Anti-PL-12)-Related Inflammatory Myopathy.
CONCLUSIONS: - Lung disease is often the first manifestation of anti-PL-12 ARS. There are no pathognomonic histopathologic features to distinguish anti-PL-12 ARS-related lung disease from idiopathic variants of diffuse interstitial lung disease. Increased inflammation, lymphoid aggregates, and nonspecific interstitial pneumonia-like areas in a biopsy, as well as clinical features of mechanic's hands, Raynaud phenomenon, arthritis, and fever, should prompt pathologists to suggest involvement by ARS. PMID: 28967806 [PubMed - as supplied by publisher]
Source: Archives of Pathology and Laboratory Medicine - October 2, 2017 Category: Laboratory Medicine Authors: Schneider F, Yousem SA, Oddis CV, Aggarwal R Tags: Arch Pathol Lab Med Source Type: research

Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway
Biomed Pharmacother. 2023 May 29;164:114958. doi: 10.1016/j.biopha.2023.114958. Online ahead of print.ABSTRACTUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive disease characterized by rimmed vacuoles (RVs). Previous studies have shown that metformin protects against several neuromuscular disorders. In the present study, we summarize the clinical features of three GNE patients with the p.D207V mutation. The pathogenesis of GNE myopathy is described, and the significance of metformin in this disease is observed. Skin biopsy-derived fibroblasts from patients with GNE myop...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - June 1, 2023 Category: Drugs & Pharmacology Authors: Tongtong Zhang Xiang Yin Xuefan Yu Ren Shang Liuzhe Lu Jing Miao Source Type: research

Dermal Ultrastructure in Collagen VI Myopathy.
Abstract Abstract The COL VI mutations are responsible for a spectrum of myopathies. The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. The changes include variations in size of collagen fibrils, flower-like sections of collagen fibrils, as well as thickening of vessel and nerve basement membranes. Electron microscopy of a skin biopsy contributes to the diagnosis of COL VI myopathies. PMID: 24134684 [PubMed - as supplied by publisher]
Source: Ultrastructural Pathology - October 17, 2013 Category: Pathology Authors: Hermanns-Lê T, Piérard GE, Piérard-Franchimont C, Delvenne P Tags: Ultrastruct Pathol Source Type: research

Longest Living Reported Case of Congenital Myopathy with Excess of Muscle Spindles (P2.334)
CONCLUSIONS: Our patient lacks the cardiomyopathy seen in CMEMS, which likely contributes to his longevity. The question remains if CMEMS is sub-type of Costello syndrome or a separate nosological entity. One major barrier to comparison is that children with CMEMS have not lived past infancy. Observation of our patient may provide insight to the relationship between these two genetically similar syndromes.Disclosure: Dr. Henry has nothing to disclose. Dr. Shiloh-Malawsky has nothing to disclose. Dr. Rowe has nothing to disclose. Dr. Fan has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Henry, J., Shiloh-Malawsky, Y., Rowe, S., Fan, Z. Tags: Child Neurology and Developmental Neurology II Source Type: research

Skin-deep; clues to the cause of proximal myopathy
A 50 year old gentleman re-presented to a neurology clinic with a 16 year history of upper limb girdle proximal weakness, progressively weak in his proximal lower limbs and with decline in exercise tolerance. He had been lost to follow-up following extensive tertiary-referral neurological investigation and three uninformative muscle biopsies ten years earlier. The presence of skin changes such as recent onset of extensive keloid scarring and cigarette paper scars on the skin prompted consideration of diagnosis of a collagen VI myopathy. Despite a lack of pathognomonic muscle changes on MRI, an autosomal dominant Bethlem My...
Source: Journal of Neurology, Neurosurgery and Psychiatry - September 9, 2014 Category: Neurosurgery Authors: Reynolds, L., Warner, G. Tags: Abstracts Source Type: research