Showing papers in "Neuromuscular Disorders in 2016"
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TL;DR: This study showed that treatment with Givinostat for more than 1 year significantly counteracted histological disease progression in ambulant DMD boys aged 7 to 10 years.
136 citations
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TL;DR: In this article, the authors used the Hammersmith Infant Neurological Examination (HIN) to assess developmental milestones in type I SMA infants and found that all infants had a score of 0 out of a scale of 4 on items assessing sitting, rolling, crawling, standing or walking.
90 citations
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TL;DR: This large epidemiological study shows rising myasthenia gravis prevalence with stable incidence over time, which is likely reflective of patients living longer, possibly due to improved disease treatment.
79 citations
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TL;DR: A targeted next-generation sequencing assay, MyoCap, was developed for the coding exons and UTRs of 180 myopathy related genes including 42 novel genes that have not yet been associated with myopathies and provides higher read depth and coverage with lower price compared to the whole exome sequencing and is thus very suitable for diagnostic use.
76 citations
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TL;DR: It is shown that DMD boys could be grouped into classes sharing trajectories and the variation was strongly reduced, suggesting that reducing unexplained variation could help to improve DMD clinical trial design.
58 citations
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TL;DR: This post-hoc analysis of DELOS indicates that the protective effect of idebenone on respiratory function is associated with a reduced risk of bronchopulmonary complications and a reduced need for systemic antibiotics.
51 citations
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TL;DR: The results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1.
43 citations
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TL;DR: This specific pattern of muscle involvement in MRI could aid in proceeding for genetic testing when clinical suspicion is high, thus reducing the need for muscle biopsy.
42 citations
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TL;DR: Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York Rabi Tawil *, George W. Padberg, Dennis W. Shaw, Silvere M. van der Maarel, Stephen J. Tapscott.
42 citations
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TL;DR: This study shows the increasing involvement of various elements of the masticatory system in progressive Duchenne muscular dystrophy, and early detection of chewing problems by asking about feeding and mastication problems, as well as asking about food adaptations made, can lead to timely intervention.
39 citations
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TL;DR: Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes and search for differences between the two genotypes that could be helpful to guide the genetic tests.
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TL;DR: Peripheral neuropathy is one of the most common features of a mitochondrial disorder, and may negatively impact on the quality of life of these patients, according to the large database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases".
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TL;DR: Levels of creatine kinase MM and MB isoforms, carbonic anhydrase III, and troponin I type 2 reliably predicted the disease state and correlated with disease severity and other novel biomarkers were discovered that may reveal mechanisms of disease pathology.
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TL;DR: Comparative analysis of distinct proteomic datasets reveals conserved changes in pathways converging on GAP43, GAPDH, NCAM, UBA1, LMNA, ANXA2 and COL6A3, serving to identify potentially attractive targets for the development of novel therapies.
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TL;DR: Bone health indices worsened with declining motor function in ambulant boys, but interpretation was affected by measure and skeletal site examined, highlighting the complexity of assessing bone health in boys with DMD.
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University College London1, Coordenadoria de Aperfeiçoamento de Pessoal de Nível Superior2, King's College London3, John Radcliffe Hospital4, Newcastle University5, NHS England6, UCL Institute of Child Health7, Royal Perth Hospital8, Harry Perkins Institute of Medical Research9, Guy's and St Thomas' NHS Foundation Trust10
TL;DR: It is demonstrated that exercise intolerance, myalgia and rhabdomyolysis may be caused by CAV3 mutations and broadens the phenotypic spectrum of caveolinopathies, and immunoblotting was a more sensitive method to detect reduced caveolin-3 levels than immunohistochemistry in skeletal muscle.
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TL;DR: The current status of determinants of successful drug development programmes for LGMD2 are reviewed, and the challenges of translating promising therapeutic strategies into effective and accessible treatments for patients are reviewed.
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TL;DR: The high reliability of the measurements and the differences between DM1 patients and controls suggest that the EMG, mechanomyographic, and force combined approach could be utilized as a valid tool to assess the level of neuromuscular dysfunction in this pathology, and to follow the efficacy of pharmacological or non-pharmacological interventions.
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TL;DR: There was a significant decrease between baseline and 12 months on PedsQLTM GCS and this decrement paralleled with the decrement in the functional outcome measures.
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TL;DR: There is an urgent need for larger, coordinated, prospective intervention studies of nutrition in SMA, and a paucity of literature regarding nutrition requirements in Sma, although it appears that energy expenditure may be reduced.
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TL;DR: Clonally expanded mtDNA deletions were found in a small number of patient fibres and negative correlations was detected between mitochondrial mass and muscle fibre area.
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TL;DR: Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy, and a single homozygous intronic mutation harbored by five patients was found.
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TL;DR: Both MFF and T2 measures in the thigh muscle were well correlated with clinical function in BMD and may serve as a surrogate outcome measure in clinical trials.
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TL;DR: IDEAL-CPMG allowed independent and simultaneous quantification of skeletal muscle fatty degeneration and disease activity in DMD and may be useful as biomarkers in clinical trials of DMD as the technique disentangles two competing biological processes.
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TL;DR: This work presents a poster presented at the215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) that presents a probabilistic assessment of the VCP related diseases Consortium for Muscular Dystrophy and Neuromuscular Diseases.
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TL;DR: Compliance with non-invasive ventilation is poor in patients with no subjective symptoms of respiratory failure, and it may be improved with appropriate education and follow-up.
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TL;DR: The present ENMC workshop report summarises recent advances in the field of RYR1 -related myopathies.
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TL;DR: An absence of TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings is demonstrated and the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1 aIP1 are reported.
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TL;DR: The statin naïve patients with HMGCR antibodies and patients with SRP antibodies were the most severely affected subgroups, with higher creatine kinase levels, and were more resistant to immunotherapy.
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TL;DR: F focal myositis is that of a rapidly growing solitary mass within a single muscle, usually in the lower limbs, that can be associated with root and/or nerve lesions, traumatic muscle lesions and autoimmune diseases, and its triggering factors remain poorly understood.