Neuromuscular Disorders

EL De Vito, SC Arce, SG Monteiro, GA Vaca Ruiz March 22, 2019

Pompe disease (PD) is an infrequent metabolic autosomal recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Late-onset Pompe disease (LOPD) is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders (NMD) [1].… Read More...

Bayasgalan Mungun-Ochir, Noriyuki Horiuchi, Adilbish Altanchimeg, Kenji Koyama, Keisuke Suganuma, Uranbileg Nyamdolgor, Ken-ichi Watanabe, Purevdorj Baatarjargal, Daiki Mizushima, Banzragch Battur, Naoaki Yokoyama, Badgar Battsetseg, Noboru Inoue, Yoshiyasu Kobayashi March 19, 2019

Dourine is a contagious equine disease caused by the protozoan organism, Trypanosoma equiperdum [1, 2]. Depending on the virulence of the T. equiperdum strain involved, there are 3 clinical stages associated with the disease [1, 2]. The first is the genital stage, characterized by genital swelling [1, 2].… Read More...

Juliette Ropars, Christine Barnerias, Marie Hully, Delphine Chabalier, Sylviane Peudenier, Audrey Barzic, Pierrick Cros, Isabelle Desguerre March 14, 2019

Proximal Spinal Muscular Atrophy (SMA) is one of the most common neuromuscular diseases, with an incidence of about one in 10,000 live births [1]. It is a progressive motor neuron disorder caused by deletion of exon 7 or other mutations in the survival motor neuron (SMN) 1 gene, resulting in SMN protein deficiency [2].… Read More...

Bjarne Udd, Werner Stenzel, Anders Oldfors, Montse Olive, Norma Romero, Martin Lammens, Benno Kusters, Caroline Sewry, Hans-Hilmar Goebel, Teresinha Evangelista March 14, 2019

European Reference Networks, ERNs, were established by the EU commission in December 2016 in order to enhance the access to accurate diagnostics and disease management for patients with rare disorders. EURO-NMD is the dedicated ERN for neuromuscular patients since all the hundreds of different neuromuscular disorders are rare diseases.… Read More...

Mariska M.H.P. Janssen, Jaap Harlaar, Bart Koopman, Imelda J.M. de Groot March 14, 2019

Duchenne Muscular Dystrophy (DMD) is an x-linked neuromuscular disorder that affects 1 in 5000 live-born boys [1]. DMD is characterized by progressive muscle weakening. First the pelvic girdle is affected and later on, all muscles become affected. Boys with DMD lose the ability to walk around the age of 13 when using corticosteroids [2] and their arm function also weakens around that age [3].… Read More...

Lin Ge, Xiaona Fu, Wei Zhang, Dong Wang, Zhaoxia Wang, Yun Yuan, Ikuya Nonaka, Hui Xiong March 14, 2019

Titin, encoded by the 364-exon TTN gene [OMIM #188840], is the largest protein in nature [1]. It acts as one of the main sarcomere components, each titin molecule bridges half of the entire sarcomere to form a continuous elastic myofilament. These myofilaments provide a scaffold for sarcomere assembly during muscle development, maintain sarcomeric structural integrity, generate passive tension, and serve as key mechanosensing and signaling hubs [2,3].… Read More...

Anne Schänzer, Jonas Görlach, Kerstin Claudi, Andreas Hahn March 14, 2019

Infantile onset Pompe disease (IOPD) is caused by virtually complete deficiency of the lysosomal enzyme acid alpha glucosidase (GAA) and abnormal storage of glycogen, leading to hypertrophic cardiomyopathy (HCM), a myopathy with profound axial muscle weakness, and early death usually within the first year of life before enzyme replacement therapy (ERT) became available.… Read More...

S Tozza, S Magri, EM Pennisi, E Schirinzi, C Pisciotta, F Balistreri, D Severi, G Ricci, G Siciliano, F Taroni, L Santoro, F Manganelli March 7, 2019

EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. EGR2 mutations typically cause different forms of demyelinating neuropathy, i.e. Charcot‐Marie‐Tooth type 1D (CMT1D), Dejerine‐Sottas Syndrome (DSS) and Congenital Hypomyelinating Neuropathy (CHN).… Read More...

Jade Phillips, Steve Courel, Adriana P. Rebelo, Dana M. Bis‐Brewer, Tanya Bardakjian, Lois Dankwa, Ali G. Hamedani, Stephan Züchner, Steven S. Scherer March 7, 2019

We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243GC (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chromosome 15.… Read More...

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