Showing papers in "Neuromuscular Disorders in 2015"

TL;DR: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy and Pediatric Neurology Unit, Catholic University, Rome, Italy Received 2 March 2015

TL;DR: First in class medicine ataluren received conditional approval in Europe for treatment of Duchenne disease.

TL;DR: Different trajectories can be identified in ambulant and non-ambulant patients and age appears to be an important factor in determining trajectories of progression in type 2 and 3 SMA.

TL;DR: This 205th ENMC International Workshop brought together 20 experts with significant expertise in muscle biopsy reading from suspected IM patients from 11 countries from various parts of the world to establish guidelines for a standardized diagnostic work up.

TL;DR: QMRI shows pathophysiological changes in Duchenne muscular dystrophy and might serve as a surrogate outcome measure in clinical trials according to modelling assumed treatment effects.

TL;DR: This case is described, the first case in which cardiomyopathy and cardiac transplantation preceded neuromuscular weakness by several years (age 12), and underlines the importance of evaluating for MFMs in patients with combined neuromUScular weakness and cardiopathy.

TL;DR: Perceived fatigue correlates with disease severity but not genotype, and does not correlate with NMDAS muscle weakness scores, which have important implications for targeting of pharmacological therapies.

TL;DR: This work has carried out the largest screening of the ANO5 gene and identified 33 patients with pathogenic changes in both alleles and 23 heterozygotes, suggesting NGS-based strategies are perfect to dissect the clinical variability in NMDs.

TL;DR: The participants of the 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies and the management and implications for research are summarized.

TL;DR: Genetic evaluation in sIBM may be clinically meaningful and lend insight into its pathomechanism, and in vitro analysis of two VCP variants found that they both disrupted autophagy similar to other pathogenic mutations.

TL;DR: This table is published annually in the December issue of Neuromuscular Disorders with an updated list of monogenic muscle diseases due to a primary defect residing in the nuclear genome.

TL;DR: The reduced ventilatory response to CO2 in DM1 patients appeared independent of lung function impairment and respiratory muscle weakness, suggesting a central cause of CO2 insensitivity.

TL;DR: The proportion of individuals seeking medical care the previous year, after falling, was more than doubled after five years, albeit the number of falls had not changed, and awareness of this increased risk of falls is important for caregivers and patients.

TL;DR: The effect of steroids on upper limb function in non ambulant DMD boys and the Performance of Upper Limb test can reliably capture change over time and the effect of intervention are reported.

TL;DR: This study demonstrates a high prevalence of hyperfiltration and hypertension in children and adolescents with DMD, and the iatrogenic cause of hypertension cannot be excluded.

TL;DR: Functional characterization of the new STIM1 mutation by calcium imaging revealed that calcium influx was significantly increased in primary myoblasts of the index patient compared to controls pointing at a severe alteration of intracellular calcium homeostasis, which widens the spectrum of STIM 1-associated myopathies to a more severe phenotype.

TL;DR: Evidence of highly variable degrees of fatty infiltration in children of different ages with Duchenne muscular dystrophy is provided, and indicates that fatty infiltration progresses more quickly after seven years of age.

TL;DR: Longitudinally, SBMAFRS-J showed a higher sensitivity to disease progression than the existing clinical measures, although it needs to be re-assessed in interventional studies with a larger sample size including English speaking subjects.

TL;DR: Results were inconclusive but suggest that increased ERT dose may be beneficial in some patients with Pompe disease experiencing motor decline, and controlled studies are needed to clarify the benefits and risks of this strategy.

TL;DR: DBS tests are useful and reliable screening tools for Pompe disease and are recommended to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause.

TL;DR: MRI data confirmed that development of respiratory insufficiency in LOPD is mainly due to the diaphragmatic weakness with sparing of the antero-posterior chest expansion related to the activity of the intercostal muscles, suggesting that respiratory muscle MRI is a quick, useful and reproducible tool for patient management as well as a reliable outcome measure for future LopD therapeutic trials.

TL;DR: Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, received 19 December 2014.

TL;DR: The use of Jarvik 2000 as a destination therapy in young patients emphasizing the use of ventricular assist devices as a new therapeutic option in DMD is described.

TL;DR: The manuscript elaborates on what is clinically meaningful and how to measure this in DMD and what to look out for in patients with DMD.

TL;DR: It is suggested that SCN4A mutations may enhance the myotonic phenotype of DM2 patients and should be screened for atypical cases with severe myotonia.

TL;DR: Recommendations for respiratory care stratified by disease type and severity are reviewed and updates.

TL;DR: Rahbek et al. as mentioned in this paper presented a group of patients with Duchenne muscular dystrophy at the 206th ENMC International Workshop on care for a novel group of individuals.

TL;DR: The result shows the accuracy and efficiency of next-generation sequencing in clinical circumstances and reflects the features and relative distribution of inherited myopathies in the Chinese population.

TL;DR: It is suggested that the North Star Ambulatory Assessment can be reliably used at least from the age of 4 years, and even if there was a progressive increase in scores with age, both total and individual item scores in Duchenne were still far from those obtained in the typically developing children of the same age.

TL;DR: The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein.