Showing papers in "Neuromuscular Disorders in 2011"

TL;DR: It is concluded that noninvasive mechanical ventilation and assisted coughing provided by specifically trained physicians and therapists, and cardioprotective medication can result in more favorable outcomes and better survival by comparison with invasive treatment.

TL;DR: Whole-body MRI provides a very evocative description of muscle involvement in Pompe disease in adults and provided new information on recurrent muscle changes particularly in the tongue and subscapularis muscle.

TL;DR: Levels of matrix metalloproteinase-9, but not TIMP-1 increased significantly with age, which indicates that MMP-9 is a potential DMD biomarker for disease progression and future studies have to confirm whether serum M MP-9 levels can be used to monitor therapeutic response.

TL;DR: The observed miRNA dysregulations and myslocalizations may contribute to DM1 pathogenetic mechanisms.

TL;DR: The hypothesis that RYR1 mutations are associated with King-Denborough syndrome is supported but that further genetic heterogeneity is likely.

TL;DR: Idebenone treatment resulted in a trend to increase peak systolic radial strain in the left ventricular inferolateral wall, the region of the heart that is earliest and most severely affected in DMD.

TL;DR: Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis.

TL;DR: The development of a module specifically designed for assessing upper limb function in nonambulant SMA patients, including young children and those with severe contractures, suggests that even some of the very weak non Ambulant children possess upper limb skills that can be measured.

TL;DR: This review will profile each of the FHL1 mutations, with a comprehensive analysis of mutations, a comparison of the clinical and histopathological features and will present several hypotheses for the possible disease mechanism(s).

TL;DR: Bone Metabolism Unit, Istituto Auxologico Italiano IRCCS, Milano, Italy Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Ont., Canada, and Institute of Human Genetics, International Centre for Life, Newcastle University.

TL;DR: In a family three children presented with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia, a homozygous mutation c.158-9A>G is identified located in the 5'-intron next to exon 3A specific for heart and skeletal muscle resulting in a more than 95% decrease of the wild type allele.

TL;DR: The findings suggest that LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy, and that this may help avoid life-threatening events associated with laminopathy.

TL;DR: Alglucosidase alfa may stabilize or even slightly improve muscle strength and respiratory function among patients with severe Pompe disease.

TL;DR: Values of PLS3 expression in lymphoblasts and peripheral blood ranged from 12 to 200-fold less than those in fibroblasts, warranting further investigation in motor neurons derived from induced pluripotential stem cells of these patients.

TL;DR: A cohort of Norwegian patients with LGMD2I, ascertained in a 4-year period, detected substantial variability in disease severity among homozygous patients, and the prevalence, the mutation spectrum and possible genotype-phenotype correlation is studied.

TL;DR: A new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected members in three generations is reported, suggesting VCP needs to be considered in the differential diagnostic work-up in patients with distal myopathy phenotype.

TL;DR: Profound muscle stiffness as the main presenting feature indicates αB-crystallin as a potent modifier of muscle contractility in a severe, recessively inherited form of CRYAB-related myofibrillar myopathy.

TL;DR: Clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myOSin storage myopathy.

TL;DR: This review focuses on the "pure" hereditary peripheral neuropathies where peripheral nerve disease is the main manifestation and does not address neurodegenerative disorders associated with but not dominated by peripheral neuropathy.

TL;DR: It is concluded that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum and should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distalMyopathy.

TL;DR: The evidence that a stem cell could be used to treat muscular dystrophies is examined, and the criteria that an ideal stem cell should meet are discussed.

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: Concerning executive abilities, DM1 subjects showed greater deficits in processing speed than in mental flexibility, inhibition or working memory, and this pattern of deficits could implicate a frontoparietal circuit in accordance with the neural networks involved in the adult form of DM1.

TL;DR: Results indicate that significant whitematter abnormality is characteristic of young patients with myotonic dystrophy type 1 and that the white matter abnormality seen with neuroimaging has implications for cognitive functioning.

TL;DR: Bone-to-muscle functional ratios indicated that bone strength was relatively high in 7-week-old dystrophic mice compared to muscle strength, but ratios were similar to wild-type mice by 24 months of age.

TL;DR: In this paper, the authors describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations and identify six different point mutations, including two novel mutations.

TL;DR: The 4th ENMC workshop reviewed epidemiology, evaluated molecular diagnostic DNA-tests, the range of clinical presentations and new findings on muscle biopsy, imaging and brain examinations in DM2 patients, and adopted the term Myotonic dystrophy type 2 (DM2) for all the progressive myotonic multiorgan disorders linked to the DM2 locus.

TL;DR: Modern concepts of myogenic cell signalling and of transcription factor expression and control with data from the classic early ophthalmic and myology embryology literature support an hypothesis that abnormalities of Wnt signalling, which activates myogenic programs and transcription factors in myoblasts and satellite cells, leads to defective muscle regeneration in FSHD.

TL;DR: Q/R ratio elevation and diastolic left ventricular (LV) internal diameter reduction were the most consistent findings in affected dogs at all ages, and establish the baseline for evaluating experimental therapies in the future.

TL;DR: Analysis of centronuclear myopathy disease- and candidate-genes identified no mutations and the safety margin of neuromuscular transmission is compromised by decreased quantal release by nerve impulse and by a reduced postsynaptic response to the released quanta.