Neuromuscular Disorders

Eva Michael, Carola Hedberg-Oldfors, Philip Wilmar, Kittichate Visuttijai, Anders Oldfors, Niklas Darin December 21, 2018

Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and typically presents with non-progressive, symmetrical muscle weakness and hypotonia, affecting mainly the proximal muscles. The disease manifestations range from a severe form with fetal akinesia, contractures and respiratory insufficiency at birth, to a very mild form with onset in adulthood.… Read More...

Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, Steve Courel, Tanya Bardakjian, Stephan Züchner, Steven S. Scherer December 21, 2018

Dominant mutations in MFN2 cause Charcot-Marie-Tooth type 2A (CMT2A), which is the most common, dominantly inherited axonal neuropathy [3,14]. More than 100 different, disease-associated mutations have been reported to date, as well as many variants of unknown significance. The clinical manifestations of dominant MFN2 mutations are strikingly varied – ranging from severe, early-onset axonal neuropathy (SEOAN) [1], to “classical CMT2”, and even late-onset axonal neuropathy [13].… Read More...

Monica Saini, Wee Lin, Corrine Kang, Thirugnanam Umapathi December 20, 2018

We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross‐ referenced with clinical records of patients admitted to a GH, [May 2011‐ July 2017], were reviewed for diagnosis of BB. Thirteen patients (age range 23‐64 years; five women) were diagnosed with BB.… Read More...

Maurice Sopacua, Janneke G.J. Hoeijmakers, Ingemar S.J. Merkies, Giuseppe Lauria, Stephen G. Waxman, Catharina G. Faber December 20, 2018

Small fibre neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibres. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intra‐epidermal nerve fibre density and/or quantitative sensory testing.… Read More...

Manuel Lousa, Carlos Vazquez‐Huarte‐Mendicoa, Antonio J. Gutierrez, Pedro Saavedra, Beatriz Navarro, Antonio Tugores December 20, 2018

Charcot‐Marie‐Tooth disease (CMT) is the most common hereditary neuromuscular disorder. This study involves the entire known CMT patient registry in Gran Canaria, represented by 256 patients belonging to 79 unrelated families, that were clinically and genetically characterized, along with physical and neurophysiological evaluation on 181 and 165 patients respectively.… Read More...

Ralf Bauer, Helene Enns, Andreas Jungmann, Barbara Leuchs, Christian Volz, Stefanie Schinkel, Walter J. Koch, Philip W. Raake, Patrick Most, Hugo A. Katus, Oliver J. Müller December 20, 2018

Mutations in genes coding for major protein components of the cytoskeleton in heart and skeletal muscle cells clinically lead to a heterogeneous group of muscular dystrophies frequently associated with severe cardiomyopathy [1]. In Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy type 2 F (LGMD2F), absence of dystrophin or δ-sarcoglycan (Sgcd) disrupts the dystrophin-glycoprotein-complex (DGC) progressively damaging cardiac and skeletal muscle cells [2].… Read More...

Maxwell S. Damian, Eelco F.M. Wijdicks December 17, 2018

Neuromuscular conditions are the primary cause for admission in less than 0.5% of cases referred to the intensive care unit (ICU) [1], consisting of either severe, newly acquired neuromuscular diseases, or complications of a pre-existing disorder requiring organ support. New onset acquired neuromuscular conditions are associated with long stays in the ICU, but their ultimate prognosis is good compared with other neurological disorders.… Read More...

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