Neuromuscular Disorders

J. Böhm, E. Malfatti, E. Oates, K. Jones, N. Romero, J. Laporte September 7, 2018

Congenital myopathies affect children and adults in all populations. They are genetically and clinically heterogeneous with a marked variability in severity and disease progression, and patients can manifest additional non-muscle features affecting different tissues. We established a clinically homogeneous cohort of patients with a severe condition characterized by fetal hypokinesia, neonatal hypotonia, respiratory distress, arthrogryposis, and congenital bone fractures, and all deceased shortly after birth.… Read More...

D. Saade, M. Lee, D. Bharucha-Goebel, S. Donkervoort, S. Neuhaus, K. Alter, C. Zampieri, C. Stanley, J. Matsubara, A. Nickolls, A. Micheil Innes, J. Mah, C. Grosmann, A. Nascimento, J. Colomer, F. Munell, G. Haliloglu, A.R. Foley, A. Chesler, C. Bönnemann September 7, 2018

PIEZO2 is a widely expressed stretch-gated ion channel recently shown to mediate human mechanosensation. We recently recognized a unique and consistent clinical phenotype with selective sensory deficits as well as systemic manifestations in two individuals with loss of function mutations in the PIEZO2 gene.… Read More...

J. Vajsar, H. Katzberg, H. Qashqari, N. Chrestian, I. Narang September 7, 2018

Prevalence of respiratory dysfunction in pediatric myasthenia is unknown. The only available reports are from the few published pediatric series describing respiratory failure associated with myasthenic crisis. In a recent survey of 52 Canadian patients published in Pediatrics in 2013, two patients with myasthenia developed respiratory failure and another four reported respiratory dysfunction.… Read More...

E. Louet, S. Misdrahi, C. Orblin Bedos, S. Birnbaum, JR. Hogrel, P. Portero, B. Clair, B. Eymard, S. Demeret, G. Bassez, S. Berrih-Aknin, A. Jobic, P. Aegerter, P. Thoumie, T. Sharshar, M. Gargiulo, M. MGEX Study group September 7, 2018

Prevalence of depression and anxiety was observed in patients with myasthenia gravis (MG) as an effect of the unpredictable progression of the disease. Increase knowledge about the psychological and psychopathological disorders in patients with MG. We focused on the analysis of the psychological assessment realized at a point before randomization of patients included in the MGEX Study.… Read More...

J. Todd, J. Witherspoon, A. Kushnir, S. Reiken, M. Razaqyar, M. Shelton, I. Chrismer, C. Grunseich, A. Mankodi, C. Bönnemann, K. Meilleur September 7, 2018

Ryanodine receptor 1-related congenital myopathies (RYR1-RM) are heterogenous, rare, slowly-progressive neuromuscular disorders for which there is no FDA-approved therapy. Estimated to affect 1:90,000 children in the US, causative RYR1 variants lead to dysfunctional RYR1-mediated Ca2+ release, elevated oxidative stress and deleterious post-translational modifications.… Read More...

B. Eymard, D. Sternberg, M. Mayer, T. Stojkovic, E. Fournier, S. Nicole, A. Behin, P. Laforêt, L. Servais, S. Bauché, B. Fontaine, D. Hantaï, M. Fardeau, N. Romero September 7, 2018

CMS diagnosis often remains difficult, due to: 1) age at onset: (a) in neonates, congenital myopathy (CM) is suspected first; (b) if age at onset is 2 years, seronegative autoimmune MG is hypothesized; 2) clinical expression differing from a common myasthenic syndrome, with atypical features such as (a) atrophy, scoliosis, contractures, prominent permanent muscle weakness overshadowing motor fluctuations, and myogenic pattern shown by electrophysiology (eg: DOK7), (b) unresponsiveness to/negative effect of AChE inhibitors (e.g.: COLQ); (c) atypical phenotypes initially orientating towards other neuromuscular diseases: LGMD (GMPPB), distal myopathy (AGRN), Charcot Marie Tooth (SYT2); (d) histopathological pattern in favor a congenital or a metabolic myopathy; (e) “hybrid” entities, combining CM features (histopathology and CM gene, e.g.: centronuclear myopathy, DYN2 gene) and CMS characteristics (fatigability and decrement).… Read More...

I. Chrismer, J. Witherspoon, B. Drinkard, M. Stockman, M. Shelton, A. Kuo, C. Allen, J. Todd, M. Jain, M. Meilleur September 7, 2018

The more common symptoms of RYR1-related myopathies (RYR1-RM) include proximal, facial, bulbar, and/or respiratory muscle weakness, hypotonia, scoliosis, and fatigue. In many cases, respiratory muscle weakness results in respiratory insufficiency, which places individuals at risk of early mortality. To gain a better understanding of respiratory function in RYR1-RM, we assessed pulmonary function using forced and slow vital capacities (FVC, SVC) in this population.… Read More...

E. Estephan, A. Zambon, P. Marchiori, A. Silva, C. Moreno, U. Reed, A. Töpf, H. Lochmüller, E. Zanoteli September 7, 2018

The p.N88K RAPSN variant is a common variation found in European patients, but not in South Americans. Patients with p.N88K variant in compound heterozygosis with another pathogenic variant might present different phenotypes, seeming that the heteroallelic p.N88K-rapsyn is an important determinant of phenotype.… Read More...

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