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What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?
Discussion Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional r...
Source: PediatricEducation.org - January 17, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

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

Genetic and Clinical Findings in a Chinese Cohort of Patients with collagen VI-Related Myopathies.
Abstract Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with forty UCMD and twenty BM. Muscle with biopsies revealed dystrophic changes and...
Source: Clinical Genetics - February 8, 2018 Category: Genetics & Stem Cells Authors: Fan Y, Liu A, Wei C, Yang H, Chang X, Wang S, Yuan Y, Bonnemann C, Wu Q, Wu X, Xiong H Tags: Clin Genet 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

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

Detecting Collagen VI in Bethlem Myopathy Letters
Zamurs et al. (1) investigated the functional consequences of a homozygous COL6A2 p.D871N mutation in muscle biopsy and fibroblast cultures of a recessive Bethlem myopathy patient. The authors reported the absence of collagen VI (col6) in muscle biopsy, a pattern considered distinctive for Ullrich congenital muscular dystrophy (UCMD). This finding appears inconsistent with the data provided for the patient's skin fibroblasts, which clearly show that col6 was secreted in the extracellular matrix (1). Moreover, other authors showed that recessive mutations in the α2(VI) C2 domain, with consequences similar to those reported...
Source: Journal of Biological Chemistry - March 20, 2015 Category: Chemistry Authors: Sabatelli, P., Gualandi, F., Bonaldo, P., Merlini, L. Tags: Letters Source Type: research