Neuromuscular Disorders

T. Meier, M. Leinonen, G. Buyse September 10, 2017

Patients with DMD experience respiratory function decline that is accelerated once patients become non-ambulatory. The ability of idebenone to slow respiratory function decline in patients with DMD has been investigated in two randomized, placebo-controlled trials (the phase II DELPHI trial and phase III DELOS trial).… Read More...

L. McAdam, J. Setchell, P. Thille, T. Abrams, B. Mistry, B. Gibson September 10, 2017

International care guidelines established for Duchenne Muscular Dystrophy aim to ensure comprehensive medical, rehabilitation, and psychosocial care. Interdisciplinary neuromuscular clinics are recommended as a coordinated care model to anticipate functional changes and manage associated conditions. The magnitude of education and active recommendations that families receive during interdisciplinary team appointments are not known.… Read More...

S. van Hees, S. Knuijt, H. Dicke, T. Satink, J. Raaphorst, J. Groothuis, E. Cup September 10, 2017

Myotonic dystrophy (MD) patients may experience dysphagia, gastrointestinal symptoms, diminished initiative, motor impairments and fatigue affecting activities of daily life. A qualitative study was carried out using a semi structured interview on experiences with eating, drinking, nutrition and meal preparation. Nine MD patients and caregivers participated.… Read More...

N. Goemans, L. Dewaele, K. Claeys, M. Proesmans, B. Cools, M. vanden Hauwe, P. Moens, B. Vrijsen, B. Buyse September 10, 2017

We investigated the cause of death, the provision of ventilatory support and steroid use in a cohort of Duchenne muscular dystrophy (DMD) patients, born between 1999-1980.One hundred and one subjects were identified. Data on outcome were available in 88: 29 (33%) died at a mean age of 21.3 years (SD 4.56; range 13–29), 59 subjects are currently alive (67%) (mean age 23.25 years; SD 4.55; range 18–37).… Read More...

P. Munot, I. Zaharieva, L. Hartley, R. Phadke, C. Sewry, L. Feng, R. Sud, M. Hanna, E. Matthews, F. Muntoni September 10, 2017

We present data on 2 children with congenital myopathy due to mutations in genes encoding ion-channels. First, is a 10-year-old boy with neonatal hypotonia with lower limb contractures, bulbar and facial weakness, ophthalmoplegia, ptosis with maximal functional ability to sit independently.… Read More...

M. Goudriaan, N. Goemans, M. Van den Hauwe, K. Desloovere September 10, 2017

Muscle weakness is an important symptom in children with Duchenne muscular dystrophy (DMD) and it is assumed to have a crucial impact on gait. Although several authors have described the gait deviations in children with DMD, no study has analysed the direct association between muscle weakness and gait deviations in this population.… Read More...

K. Nagaraju, A. Mullen, A. MacKinnon, K. Uaesoontrachoon, E. Hoffman, S. Srinivassane September 10, 2017

Preclinical efficacy evaluation in mouse models of human diseases is an important component of drug development. It has been reported that phase II clinical trial success rates have fallen significantly in recent years, with a lack of efficacy being the most frequent reason for failure.… Read More...

F. Muntoni, J. Domingos, A. Manzur, A. Mayhew, M. Guglieri, J. Signorovitch, S. Ward September 10, 2017

Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognized and complicates the interpretation of clinical studies. To further understanding, we assessed whether boys with DMD could be clustered into groups sharing similar trajectories of ambulatory function over time, as measured by the North Star Ambulatory Assessment (NSAA) total score, and then explored associations with other factors.… Read More...

M. Neri, C. Scotton, R. Selvatici, F. Gualandi, B. Wirth, L. Schols, T. Klockgether, H. Lochmüller, F. Muntoni, A. D'Amico, E. Bertini, M. Pane, E. Mercuri, A. Ferlini September 10, 2017

The heterogeneous genetic landscape of NMDs raises challenges regarding the definition of a molecular diagnosis, now becoming mandatory for the inclusion in emerging therapeutic trials. To improve the diagnostic definition in our NMDs patients we used a next generation sequencing approach: clinical gene panel analysis for the screening of known genes, WES (whole exome sequencing) and WGS (whole genome sequencing) analysis aimed at the identification of novel causative genes.… Read More...

K. Nagaraju, J. Boehler, A. Horn, J. Novak, S. Ghimbovschi, I. Lundberg, J. Jaiswal September 10, 2017

Currently, the cause of myositis is unknown, but disease onset sometime has been associated with exposure to environmental agents such as viral infections. Although attempts to identify viruses in myositis skeletal muscle have failed, several studies have shown that a viral signature (e.g., Type 1 interferon) is present in myositis muscle.… Read More...

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