Neuromuscular Disorders

Oksana Pogoryelova, Phillip Cammish, Hank Mansbach, Zohar Argov, Ichizo Nishino, Alison Skrinar, Yuimo Chan, Shahriar Nafissi, Hosein Shamshiri, Emil Kakkis, Hanns Lochmüller November 15, 2017

• Patient registry is a valuable tool in international GNE myopathy research.• The registry expands the knowledge of GNE myopathy genetics and epidemiology• The registry allows monitoring of the disease progression and discover diversity• The data suggest possible genotype-phenotype correlation in GNE myopathy

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Laura Ludovica Gramegna, Maria Pia Giannoccaro, David Neil Manners, Claudia Testa, Stefano Zanigni, Stefania Evangelisti, Federico Oppi, Roberto Poda, Patrizia Avoni, Raffaele Lodi, Rocco Liguori, Caterina Tonon November 15, 2017

• Brain 1H-MRS showed pathological lactate accumulation in one third of DM1 patients• Lactate was higher in DM1 with higher white matter lesion load and cortical atrophy• Muscle 31P-MRS showed oxidative mitochondrial metabolism deficits in DM1• Muscle mitochondrial ATP production was slower in more clinically affected DM1• In vivo multi-organ evidence of oxidative metabolism deficit in DM1 was provided

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Patrick M. Meyer Sauteur, Ruth Huizinga, Anne P. Tio-Gillen, Marie-Claire Y. de Wit, Wendy W.J. Unger, Christoph Berger, Annemarie M.C. van Rossum, Bart C. Jacobs November 11, 2017

Abstract

We recently presented a case series of seven children who developed severe and complicated Guillain-Barré syndrome (GBS) after infection with M. pneumoniae (Mp) (Meyer Sauteur et al., 2015). The disease was rapidly progressive and severe: one died, four had clinically defined central nervous system (CNS) involvement, and five required mechanical ventilation.

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K. Kuitwaard, W.J.R. Fokkink, E Brusse, A.F.J.E. Vrancken, F. Eftimov, N.C. Notermans, A.J. van der Kooi, I.S.J. Merkies, B.C. Jacobs, P.A. van Doorn November 11, 2017

Abstract

High peak levels of serum IgG may not be needed for maintenance treatment of CIDP with IVIg. More frequent dosing of IVIg leads to more stable IgG levels and higher trough levels which may be related with improved clinical efficacy.

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M. Toussaint, M. Chatwin, J. Gonzalez, D.J. Berlowitz, the ENMC Respiratory Therapy Consortium November 11, 2017

• This report provides with an algorithmic approach to ACT management in NMDs• ACTs are employed to compensate for weak respiratory muscles in people with NMDs• Peripheral ACTs aim to improve ventilation and mucus transport• Proximal ACTs aim to improve cough by augmenting inspiration, expiration or both• Cough efficacy requires peak cough flow values above 160-200 L/min in adult NMDs

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L León Cejas, D Binaghi, M Socolovsky, A Dubrovsky, L Pirra, C Marchesoni, A Pardal, S Monges, G Peretti, A Taratuto, F Lubinieki, R Reisin November 2, 2017

Abstract

Intraneural perineurioma is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Magnetic resonance neurography is a useful tool to localize the lesion, evaluate its extension, and discriminate between different etiologies.

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Ahmed Wali, Sara Khan November 1, 2017

Abstract

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN) are the most common variants of Guillian Barre syndrome documented in the Asian population. However the variability of early neurophysiologic findings in the Asian population compared to western data has not been documented.

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K. Kuitwaard, W.J.R. Fokkink, E Brusse, A.F.J.E. Vrancken, F. Eftimov, N.C. Notermans, A.J. van der Kooi, I.S.J. Merkies, B.C. Jacobs, P.A. van Doorn November 1, 2017

Abstract

CIDP patients treated with intravenous immunoglobulin (IVIg) usually start with a standard dosage of 2 g/kg body weight. Only a minority of patients have a sustained improvement, and most require ongoing maintenance treatment. Preferred IVIg regimens however vary considerably between doctors and at present it is unknown which is optimal.

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Mauro Scarpelli, Lidia Carreño-Gago, Anna Russignan, Noemi de Luna, Clara Carnicer-Cáceres, Alessandra Ariatti, Lorenzo Verriello, Grazia Devigili, Paola Tonin, Elena Garcia-Arumi, Tomàs Pinós October 31, 2017

• We describe two novel mtDNA mutations in two patients affected with myopathy• These are the m.8305CT mutation (MTTK gene) and the m.4440GA mutation (MTTM gene)• Muscle biopsies showed ragged red fibers and COX-negative fibers in both patients• These two mutations are heteroplasmic and only detected in muscle tissue• These two mutations presented higher mutation load in COX-negative fibers

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