G. Wynne, A. Vuorinen, E. Emer, D. Conole, M. Chatzopoulou, S. Davies, A. Russell, S. Guiraud, S. Squire, A. Berg, B. Edwards, S. Hemming, T. Kennedy, L. Moir, K. Davies, S. Harriman, J. Tinsley, F. Wilson September 12, 2017

Duchenne muscular dystrophy (DMD) is a devastating, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. There is currently no cure for DMD, although various promising approaches (e.g. exon skipping, read through of stop codons, gene therapy) are being developed.… Read More...

T. Sato, M. Adachi, K. Nakamura, M. Zushi, K. Goto, T. Murakami, K. Ishiguro, M. Shichiji, K. Saito, T. Ikai, M. Osawa, I. Kondo, S. Nagata, K. Ishigaki September 12, 2017

Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk.… Read More...

A. Hick, I. Prokic, F. Bousson, C. Fugier, B. Gobert, M. Hestin, E. Riguet, T. Cherrier, J. Chal, O. Pourquie, M. Guyot, J. Bonnefoy September 12, 2017

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy. DMD is a very severe disorder presenting with rapidly progressing muscle wasting and premature death. No current treatment is available and drugs improving the course of the disease are limited and with various side effects.… Read More...

T. Murakami, K. Ishigai, K. Ishiguro, T. Sato, M. Shichiji, M. Ikeda, S. Nagata, T. Uchida, S. Kuru, T. Nakayama September 12, 2017

It was reported that gene therapy can provide a possible basis for the treatment of patients with FCMD. There is now a greater need for safe, non-invasive techniques for assessment of skeletal muscle volume in FCDM patients. We showed the efficacy of muscle volumetry using Bioelectric Impedance Analysis (BIA).… Read More...

C. Wingate, G. Pinniger, P. Arthur, A. Bakker, K. Nowak September 12, 2017

Duchenne muscular dystrophy (DMD) is a debilitating X-linked disease caused by mutations in the gene encoding the protein dystrophin. The lack of dystrophin leads to progressive skeletal muscle damage and wasting, which significantly decreases locomotory ability. DMD ultimately results in death from respiratory or cardiac failure, as no cure is currently available.… Read More...

T. Gidaro, A. Moraux, M. Grelet, E. Gasnier, M. Villeret, M. Annoussamy, J. Vissing, S. Attarian, T. Mozaffar, S. Iyadurai, K. Wagner, G. Walker, A. Richiardi, S. Shukla, D. Vissière, L. Servais September 12, 2017

To evaluate the feasibility of home-monitoring changes in functional activity using ActiMyo in a subset of patients with LGMD2B and FSHD in study ATYR 1940-C-004. ActiMyo is composed of two watch-like devices that record magneto-inertial sensors used to compute activity and gait variables in controlled and non-controlled setting.… Read More...

P. Piñol, E. Fernández-Simón, X. Suárez, N. de Luna, A. Molins, N. de Oliva, A. Martínez, L. Escudero, D. Sánchez, X. Navarro, I. Illa, E. Gallardo, J. Díaz-Manera September 12, 2017

Several growth factors have been involved in the process of muscle fibrosis in Duchenne muscular dystrophy (DMD). Nintedanib, a tyrosine kinase inhibitor, is effective in fibrotic disorders such as idiopathic lung fibrosis. We studied whether nintedanib could be effective slowing down fibrosis in DMD.… Read More...

P. Arthur, J. Terrill, M. Grounds September 12, 2017

Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease where current treatments, such as corticosteroids, are limited in efficacy and can cause severe side effects. While much effort is directed at molecular therapies to help replace the missing dystrophin protein, this approach still has limitations and a cost effective and efficacious universal therapy has yet to be developed.… Read More...

J. Hogrel, G. Ollivier, I. Ledoux, L. Hébert, B. Eymard, J. Puymirat, G. Bassez September 12, 2017

Myotonia and muscle weakness are two primary impairments in patients suffering from myotonic dystrophy type 1 (DM1). Both myotonia and muscle weakness are generally evidenced during maximal grip contractions and have been used as key biological markers of disease severity. Despite large inter-individual variations, the length of CTG repeat is thought to be a rough determinant of disease severity.… Read More...

Andoird App
Loading...