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Total 140 results found since Jan 2013.

Andersen–Tawil Syndrome With Early Fixed Myopathy
We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating weakness in addition to a fixed proximal myopathy. A 12-lead electrocardiogram showed prominent “U” waves, and McManis protocol prolonged exercise test showed an unusually early decline in the compound motor action potential amplitude by 51%. Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. This is the first reported case of ATS in an Irish population with an unusua...
Source: Journal of Clinical Neuromuscular Disease - November 22, 2014 Category: Neurology Tags: Case Review Source Type: research

Cardiac and Muscular Involvement in Idiopathic Inflammatory Myopathies: Noninvasive Diagnostic Assessment and the Role of Cardiovascular and Skeletal Magnetic Resonance Imaging.
Abstract Idiopathic inflammatory myopathies (IIMs) are rare autoimmune diseases and include dermatomyositis, polymyositis, necrotizing myopathy and inclusion body myositis; they are characterized by inflammation of skeletal muscle and other internal organs and may potentially lead to irreversible damage and death. Only a small percentage of IIM has clinically overt cardiac disease; however, heart involvement is one of the leading causes of death and therefore, early detection remains a challenge. Biochemical markers and non-invasive methods such as the electrocardiogram and echocardiography have a role in diagnosi...
Source: Inflammation and Allergy Drug Targets - May 26, 2014 Category: Allergy & Immunology Authors: Mavrogeni S, Sfikakis PP, Dimitroulas T, Kolovou G, Kitas GD Tags: Inflamm Allergy Drug Targets Source Type: research

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment
In this important report published in this journal a 55-year-old woman developed symmetrical weakness, and paraesthesias with painful dysthesias of the legs culminating in flaccid paraplegia with absent deep reflexes three days after a second cycle of intravenous oxaliplatin and oral capecitabine. Contemporarily, she developed left ventricular cardiac failure with diminished ejection fraction to 30%. Nerve conduction studies and sensorimotor evoked potentials were compatible with demyelinating polyneuropathy while upper and lower limb electromyography revealed widespread myopathy. The serum creatinine phosphokinase was ext...
Source: Neuromuscular Disorders - April 29, 2013 Category: Neurology Authors: Nicholas G. Kounis, George D. Soufras Tags: Letters to the Editor Source Type: research

Dilated cardiomyopathy in patients with mutations in anoctamin 5
Conclusions: Dilated cardiomyopathy is a potential complication in patients with myopathies due to mutations in the ANO5 gene whose screening requires specific procedures.
Source: International Journal of Cardiology - October 5, 2012 Category: Cardiology Authors: K. Wahbi, A. Béhin, H.M. Bécane, F. Leturcq, M. Cossée, P. Laforêt, T. Stojkovic, P. Carlier, M. Toussaint, V. Gaxotte, P. Cluzel, B. Eymard, D. Duboc Tags: Original Articles Source Type: research