Neuromuscular Disorders

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...

Gabriel Cea, Juan Pablo Contreras, Shirley Aguilar, Julia Vera February 20, 2019

Bilateral radial palsy is an uncommon clinical presentation, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch [1] or birthing bar during labour [2]. Non-compressive demyelinated inflammatory mononeuropathy has been reported [3] but it is not of sudden onset nor does it present bilaterally simultaneously.… Read More...

Jens Spiesshoefer, Maya Runte, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert February 20, 2019

Myotonic dystrophy type I (DM1; Online Mendelian Inheritance in Man® ID 160900) is a hereditary multi-system disorder characterized by myopathic facies, distal muscle wasting, myotonia, bilateral cataract, endocrine and cardiac conduction abnormalities. The prevalence of DM1 in industrialized countries is 3-15/100,000.… Read More...

François BOEMER, Jean-Hubert CABERG, Vinciane DIDEBERG, Domien DARDENNE, Vincent BOURS, Mickaël HILIGSMANN, Tamara DANGOULOFF, Laurent SERVAIS February 16, 2019

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder that is characterized by the degeneration of motor neurons in the spinal cord and muscle atrophy. The spectrum of the SMA phenotype is stratified into five types depending on the age of onset, which can range from before birth to young adulthood.… Read More...

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