Neuromuscular Disorders

Agnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, Véronique Manel, Sylviane Peudenier, Isabelle Desguerre, Susana Quijano-Roy, Catherine Vanhulle, Mélanie Fradin, Arnaud Isapof, Michaël Jokic, Michèle Mathieu-Dramard, Klaus Dieterich, Florence Petit, Corinne Magdelaine, Fabienne Giuliano, Domitille Gras, Damien Haye, Mathilde Nizon, Maryse Magen, Eric Bieth, Claude Cances October 31, 2018

Spinal muscular atrophy with respiratory distress (SMARD) is an autosomal recessive neuromuscular disorder historically described as a variant of spinal muscular atrophy (SMA) [1]; although SMARD remains less well known, it is more severe. The prevalence has not yet been determined, and the phenotype might be heterogeneous [2–4].… Read More...

Patricia Hafner, Rahul Phadke, Adnan Manzur, Ralph Smith, Stephan Jaiser, Peter Schutz, Caroline Sewry, Francesco Muntoni, Matthew Pitt October 31, 2018

The diagnostic approach to neuromuscular diseases in children is often challenging. Medical history, clinical examination, laboratory tests, electromyography (EMG) and muscle biopsy are well known components of the functional classification of neuromuscular diseases whilst imaging and genetic testing are increasingly gaining importance [1-3].… Read More...

Heidemarie Kletzl, Anne Marquet, Andreas Günther, Wakana Tang, Jules Heuberger, Geert Jan Groeneveld, Willem Birkhoff, Eugenio Mercuri, Hanns Lochmüller, Claire Wood, Dirk Fischer, Irene Gerlach, Katja Heinig, Teodorica Bugawan, Sebastian Dziadek, Russell Kinch, Christian Czech, Omar Khwaja October 31, 2018

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness and devastating disease-related complications. It is the leading genetic cause of mortality in infants, with an incidence of 1 in 6,000−11,000 live births and a carrier frequency estimated at 1 in 40−60 [1-3].… Read More...

Miguel Oliveira Santos, Pedro Ninitas, Isabel Conceição October 10, 2018

Limb-girdle muscular dystrophy type 2A (LGMD2A) or calpainopathy is an autosomal recessive disorder caused by calpain-3 deficiency due to mutations in the CAPN3 gene [1-4]. Recently, a CAPN3 gene heterozygous deletion (c.643_663del21) has been associated with an autosomal dominant transmission pattern in thirteen unrelated European families [5, 6].… Read More...

Richa Kulshrestha, Natalie Forrester, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, Martin Samuels October 6, 2018

Charcot-Marie-Tooth (CMT) disease, a common inherited peripheral neuropathy, typically characterized with progressive motor and sensory polyneuropathy. It is clinically variable in its age of onset and level of severity. There are in excess of 75 genes attributed to CMT, amongst them is the Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) gene.… Read More...

Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Parman-Gulsen, Coskun Ozdemir, Joan Brengman, Feza Deymeer, Andrew G. Engel October 4, 2018

The authors regret that in the paper “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up”, published in Neuromuscular Disorders, 28: 315-322, 2018 Table 1 as well as line 7 from bottom of column 1 of page 316 contain an error.… Read More...

Julien Esnault, Besma Missaoui, Samy Bendaya, Michele Mane, Bruno Eymard, Pascal Laforet, Tanya Stojkovic, Anthony Behin, Philippe Thoumie September 27, 2018

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited myopathy, with an estimated frequency of 1 in 25,000 [1]. Its transmission is autosomal dominant. Clinical presentation typically starts with facial and shoulder girdle weakness, followed by the trunk and leg muscles [2], caused by muscle atrophy and fatty infiltration [3].… Read More...

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