Neuromuscular Disorders

Manu Jokela, Sanna Huovinen, Johanna Palmio, Anna-Maija Saukkonen, Sini Penttilä, Bjarne Udd September 6, 2017

A 28-year old male was examined due to progressive proximodistal muscle weakness of three years’ duration. Severe generalized skeletal muscle weakness and atrophy spared only the facial and distal hand muscles. The patient had marked neck rigidity and scapular winging. Echocardiography was normal.… Read More...

Liang Wu, Bingwu Xiang, Huan Zhang, Xiaoxiao He, Celina Shih, Xiang Chen, Tao Cai September 6, 2017

Congenital muscular dystrophies (CMD) are a group of neuro-muscular disorders characterized by severe muscle hypotonia at birth or within the first years of life. Symptoms include delayed motor milestones, with generalized hypotonia, respiratory and swallowing difficulties, and muscle weakness. Causal mutations have been identified in at least a dozen of the genes as summarized in recent reviews [1,2], including three genes (COL6A1, COL6A2, COL6A3) involving collagen VI related dystrophies, 14 genes (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE, ISPD, GTDC2, DAG1,TMEM5, B3GALNT2, B3GNT1, GMPPB, SGK196) involving α-dystroglycan related dystrophy, four genes (DPM1, DPM2, DPM3, DOLK) involving alpha dystroglycanopathy (i.e., α-DGpathy), the SELENON gene in the rigid spine CMD, the RYR1 gene in multiple neuromuscular-related disorders, the LMNA gene in 12 different conditions (MIM 150330), and the LAMA2 gene (Laminin Subunit Alpha 2, MIM 156225), which cause congenital merosin-deficient muscular dystrophy (MIM 607855) with various impaired motor abilities and mental development.… Read More...

Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura September 6, 2017

Duchenne muscular dystrophy (DMD) is an X linked condition characterized by progressive muscle weakness and wasting due to absence of the protein dystrophin in the muscles [1]. DMD is the most common muscular dystrophy in children and affects approximately one in every 4000 newborn males [2].… Read More...

Marika Pane, Leonardo Lapenta, Emanuela Abiusi, Roberto de Sanctis, Marco Luigetti, Concetta Palermo, Domiziana Ranalli, Stefania Fiori, Francesco Danilo Tiziano, Eugenio Mercuri September 6, 2017

Spinal muscular atrophy (SMA) is a common recessive neuromuscular disorder characterized by the degeneration of spinal motor neurons with subsequent muscle weakness and atrophy, and is due to the homozygous mutations in the survival motor neuron 1 gene (SMN1) [1]. The clinical spectrum ranges from profound generalized weakness and inability to sit unsupported, observed in the most severe form (type 1), to proximal muscle weakness in ambulant patients as observed in type 3 [2,3].… Read More...

Mojgan Reza, Daniel Cox, Lauren Phillips, Diana Johnson, Vaishnavi Manoharan, Michael Grieves, Becky Davis, Andreas Roos, Jennifer Morgan, Michael G. Hanna, Francesco Muntoni, Hanns Lochmüller September 6, 2017

NMDs represent a major cause of mortality and morbidity in children and adults. NMDs collectively affect an estimated 500,000 EU citizens and result in significant costs for families and healthcare systems. Many institutions and organisations, including the MRC Centre for Neuromuscular Diseases, have reduced the gap between science discoveries and patient benefit by establishing a multidisciplinary translational research activity in these disabling disorders.… Read More...

Jacqueline Montes, Sally Dunaway Young, Elena Mazzone, Marion Main, on behalf of the International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group September 6, 2017

• Strength, flexibility and function considerations for rehabilitation interventions for SMA• Clinical outcome measures used to evaluate disease status and progression for SMA• Assistive devices and technology resources for SMA

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