Neuromuscular Disorders

Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima, Ryuji Kaji March 28, 2019

PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations.… Read More...

Didem Ardicli, Anna Sarkozy, Irina Zaharieva, Charu Deshpande, Istvan Bodi, Ata Siddiqui, Jean Marie U-King-Im, Amy Selfe, Rahul Phadke, Heinz Jungbluth, Francesco Muntoni March 28, 2019

Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are individually rare and highly heterogeneous conditions, characterized by congenital/early onset muscle weakness and characteristic muscle biopsy findings compatible with a dystrophic or myopathic process, respectively. The clinical complexity of CMDs and CMs is mirrored by their wide genetic heterogeneity.… Read More...

G Toksoy, H Durmus Tekce, A Aghayev, G Bagirova, B Sevinc Rustemoglu, S Basaran, S Avcı, B Karaman, Y Parman, U Altunoglu, Z Yapici, P Tekturk, F Deymeer, H Topaloglu, H Kayserili, P Oflazer-Serdaroglu, ZO Uyguner March 28, 2019

Dystrophinopathy is a group of X linked muscle diseases caused by pathogenic DMD variants that manifest in a clinical spectrum ranging from asymptomatic hyperCKemia and muscle cramps with myoglobinuria at the mild end to Becker muscular dystrophy (BMD, MIM 300376), DMD-associated dilated cardiomyopathy (XL-DCM, MIM 302045) and Duchenne muscular dystrophy (DMD, MIM 310200) at the severe end.… Read More...

Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann March 27, 2019

Pathogenic autoantibodies in myasthenia gravis (MG) target the nicotinic acetylcholine receptor (AChR) or other muscle endplate proteins such as muscle-specific kinase (MuSK) resulting in AChR loss or reduced clustering of AChRs at the endplate, respectively [1]. The first clinical manifestation of MG is often fatigable weakness of the extraocular muscles (EOMs) and /or levator palpebrae superioris resulting in fatigable diplopia and/or ptosis [2].… Read More...

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...

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