Neuromuscular Disorders

Saskia Lassche, Anke Rietveld, Arend Heerschap, Hieronymus W van Hees, Maria TE Hopman, Nicol C Voermans, Christiaan GJ Saris, Baziel GM van Engelen, Coen AC Ottenheijm March 7, 2019

Sporadic inclusion body myositis (IBM) is one of the most common acquired muscle disorders in adults over 50 years old [1,2]. Progressive disease is characterized by atrophy and fatty infiltration of muscle tissue, resulting in muscle weakness [3–5]. In early disease, the quadriceps, deep finger flexors and the pharyngeal muscles are most frequently affected, restricting functional ability and quality of life [6–8].… Read More...

C.H. Cremers, M.J. Fischer, E.T. Kruitwagen-van Reenen, R.I. Wadman, J.J. Vervoordeldonk, M. Verhoef, J.M. Visser-Meily, W.L. van der Pol, C.D. Schröder March 3, 2019

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. SMA displays significant variability in severity, mainly due to copy number variation of the nearly homologous SMN2 gene.… Read More...

Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone March 2, 2019

Mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1) cause autosomal dominant or less commonly recessive congenital myopathies with a wide range of clinical phenotypes and pathological findings [1]. Weakness generally occurs prior to teenage years, but adult-onset weakness has been reported [1].… Read More...

Oksana Pogoryelova, J. Andoni Urtizberea, Zohar Argov, Ichizo Nishino, Hanns Lochmüller, ENMC workshop study group March 2, 2019

Clinicians, researchers, industry and patient group representatives (in total 25 members of the study group from 12 countries) gathered in Hooffdorp in September 2018 to discuss current knowledge and perspective research in GNE myopathy (previously known as Nonaka disease, Quadriceps Sparing Myopathy, Distal Myopathy with Rimmed Vacuoles or Hereditary inclusion body myopathy type 2).… Read More...

Elena Schlapakow, Viktoriya Peeva, Gábor Zsurka, Monika Jeub, Bettina Wabbels, Cornelia Kornblum, Wolfram S. Kunz February 26, 2019

Chronic progressive external ophthalmoplegia (CPEO) is the most frequent mitochondrial myopathy [1], which is characterised by a slowly progressive paresis of extraocular muscles leading to ptosis and restriction of eye movements with subsequent strabism and – less frequently – diplopia. CPEO is caused by mutations either in the mitochondrial (mt) or the nuclear genome both resulting in a perturbance of mitochondrial oxidative phosphorylation.… Read More...

Elena Ikenberg, Peter Reilich, Angela Abicht, Corina Heller, Benedikt Schoser, Maggie C. Walter February 21, 2019

Neurofilaments are components of the neuronal cytoskeleton and are composed of three subunits: the neurofilament heavy chain (NFEH), the medium chain (NEFM), and the light chain (NEFL). They are crucial for the growth of axons, the maintenance of axon caliber and the transmission of electrical impulses along axons.[1] Abnormal accumulation of neurofilament occurs in pathological conditions such as neurofilament inclusion disease (NFID), giant axonal neuropathy (GAN), diabetic neuropathy, spinal muscular atrophy (SMA), spastic paraplegia, Alzheimer’s disease (AD) and Parkinson’s disease (PD).… Read More...

V. Ricotti, V. Selby, D. Ridout, J. Domingos, V. Decostre, A. Mayhew, M. Eagle, J. Butler, M. Guglieri, M. Van der Holst, M. Jansen, J.J.G.M. Verschuuren, I.J.M. de Groot, E.H. Niks, L. Servais, V. Straub, T. Voit, J.Y. Hogrel, F. Muntoni February 20, 2019

Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disorder with an estimated incidence of approximately 1 in 3.500 to 1 in 5.000 live male births. [1–3] DMD is caused by mutations in the dystrophin gene (DMD) that lead to an absence or near-absence of dystrophin, a protein essential for muscle cell integrity.… Read More...

Ceren Günbey, Kutay Sel, Çağrı Mesut Temuçin, Hayrettin Hakan Aykan, Bahadır Konuşkan, Tevfik Karagöz, Banu Anlar February 20, 2019

Congenital myasthenic syndromes (CMS) are genetically inherited defects of the neuromuscular junction (NMJ) resulting in weakness and fatigability in skeletal, extraocular or bulbar muscles [1, 2]. They are divided into three groups according to the site of the defect: presynaptic, synaptic, or postsynaptic, the latter being the most common.… Read More...

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