Neuromuscular Disorders

Sze Choong Wong, Volker Straub, Leanne M Ward, Ros Quinlivan January 11, 2019

On the 1st to 3rd June 2018, the 236th European Neuromuscular Centre workshop was held in Hoofddorp, The Netherlands, to discuss the issue of bone protective therapies in Duchenne muscular dystrophy (DMD), in particular, the feasibility of developing clinical trials. Twenty-six delegates, that included 19 experts in the neuromuscular and bone clinical and research fields, three representatives from patient organizations, two adults with DMD and two representatives from industry, attended this workshop.… Read More...

Zohar Argov January 11, 2019

Israel is a relatively young country (established in 1948) with a total population of about 8 million. Grossly, there are about 75% Jews and 21% Arabs with Israeli nationality residing in Israel. Although there is currently a relatively high rate of inter community marriages between different Jewish historical ethnic origins and to a lesser degree among Arabs, characteristic communities can still be delineated according to country/region of origin.… Read More...

Simone Thomas, Senda Ajroud‐Driss, Mazen M. Dimachkie, Christopher Gibbons, Roy Freeman, David M. Simpson, J. Robinson Singleton, A. Gordon Smith, PNRR Study Group, Ahmet Höke, Vinay Chaudhry, David Cornblath, Mohamed Khoshnoodi, Thomas Lloyd, Brett Morrison, Michael Polydefkis, Ricardo Roda, Charlotte Sumner, Summer Gibson, Kelsey Barrell, Ligia Onofrei January 11, 2019

Abstract:

The Peripheral Neuropathy Research Registry (PNRR) is a prospective cohort of peripheral neuropathy (PN) patients focused on idiopathic axonal peripheral neuropathy. Patients with diabetic, HIV‐ and chemotherapy‐induced peripheral neuropathies are enrolled as comparison groups. The PNRR is a multi‐center collaboration initiated and funded by the Foundation for Peripheral Neuropathy (FPN) with the objective to recruit a well characterized cohort of patients with different phenotypes and symptoms in each diagnostic category, and to advance research through development of biomarkers and identification of previously unknown causes of PN.… Read More...

Wo-Tu Tian, Xing-Hua Luan, Hai-Yan Zhou, Chao Zhang, Xiao-Jun Huang, Xiao-Li Liu, Sheng-Di Chen, Hui-Dong Tang, Li Cao January 6, 2019

The congenital disorders of glycosylation (CDG) are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid [1, 2]. The protein glycosylation in human cells is classified into N- and O-linked glycosylation [3].… Read More...

Byung-Ok Choi, Soo Hyun Nam, Ki Wha Chung December 29, 2018

We would like to thank Dr. Züchner and his colleague for giving us valuable comments about our recently published paper [1,2]. We agree with their conclusion that the rs2292832 single nucleotide polymorphism (SNP) of MIR149 (n.86TC) has no significant association between phenotypic heterogeneity and genotypes in the Charcot-Marie-Tooth disease type 1A (CMT1A) patients with European ancestry [2].… Read More...

Prof. Haluk Topaloğlu December 27, 2018

I would like to share my experience on peculiar neuromuscular disorders I have seen over the past 30 plus years in a specific region of the World, a rather complicated geography and history, Anatolia. This region of the earth is unique, because throughout the centuries the land has been occupied by many clusters of different ethnicities, as well as Moslem and other societies.… Read More...

Feifei Tao, the Inherited Neuropathy Consortium, Stephan Züchner December 25, 2018

A recent publication in your journal reported the identification of a genetic modifier, microRNA149 (MIR149), of Charcot-Marie-Tooth disease type 1A (CMT1A) [1]. In a sample of Korean patients, Nam et al. demonstrated significant association of the common SNP rs2292832 in MIR149 with age at onset (AAO) and severity of CMT1A.… Read More...

Hyun Joo Kee, Hee Kyung Yang, Jeong-Min Hwang, Kyung Seok Park December 22, 2018

Myasthenia gravis (MG) is an autoimmune disorder with antibodies targeted to acetylcholine receptors (AChRs) in the postsynaptic membrane [1]. Impaired neuromuscular junction transmission results in weakness of skeletal muscles [1]. Diagnostic tests for MG include single fiber electromyography [2], repetitive nerve stimulation test [3], acetylcholine receptor antibody (AChR-Ab) assay [4], rest test [5], ice-pack test [6], sleep test [7], and Tensilon® or neostigmine test [8].… Read More...

Kirsi J. Kiiski, Vilma-Lotta Lehtokari, Anna K. Vihola, Jenni M. Laitila, Sanna Huovinen, Lydia J. Sagath, Anni E. Evilä, Anders E. Paetau, Caroline A. Sewry, Peter B. Hackman, Katarina B. Pelin, Carina Wallgren-Pettersson, Bjarne Udd December 21, 2018

Nemaline myopathy (NM) is one of the most common of the congenital myopathies, which include clinically, histologically and genetically variable neuromuscular disorders defined on the basis of structural abnormalities in the muscle fibres [1]. The diagnostic hallmark is nemaline (rod) bodies, stained red with the Gömöri trichrome technique at light microscopy and appearing as dark lattice structures with electron microscopy [2,3].… Read More...

Eva Michael, Carola Hedberg-Oldfors, Philip Wilmar, Kittichate Visuttijai, Anders Oldfors, Niklas Darin December 21, 2018

Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and typically presents with non-progressive, symmetrical muscle weakness and hypotonia, affecting mainly the proximal muscles. The disease manifestations range from a severe form with fetal akinesia, contractures and respiratory insufficiency at birth, to a very mild form with onset in adulthood.… Read More...

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