J. Schneider, J. Gonzalez, K. Brown, D. Golebiowski, V. Ricotti, J. Quiroz, C. Morris September 11, 2017

Duchenne muscular dystrophy (DMD) is a severe muscle disorder caused by loss-of-function mutations in the DMD gene, which lead to the absence of the dystrophin protein. Without dystrophin, the structural link between the actin cytoskeleton and extracellular matrix is broken, and muscles are highly susceptible to contraction-induced damage.… Read More...

I. Sanchez-Albisua, O. Kaiser, K. Rupprich, H. Kölbel, A. Della, U. Schara September 11, 2017

Ptosis and external ophthalmoplegia are main signs of some neurological diseases in childhood. An accurate assignment has diagnostic and therapeutic consequences. A seven months old girl presented with congenital bilateral ptosis and a movement disorder with head reclination. On physical examination there was both vertical and horizontal gaze palsy.… Read More...

I. Barthélémy, O. Piperno, X. Cauchois, I. Punzón, S. Blot September 11, 2017

Non-invasive tools to monitor the muscle over disease progression or during a treatment are in intensive development in clinical and preclinical research. Imaging as an alternative to more invasive and less representative muscle biopsies is particularly attractive. We tested the ability of muscle ultrasound to follow muscle pathology in the GRMD dog, a model of DMD, and the HACD1-deficient dog, a model of centronuclear myopathy (CNM).… Read More...

I. Pagola, E. Vicente, L. Torne, E. Ardanaz, R. Fernandez-Torron, M. Ramos-Arroyo, I. Jerico September 11, 2017

Epidemiological studies about hereditary myopathies (HM) are limited and have variated results. Our aim is to describe the epidemiological characteristics of this condition in Navarra (which represents a 1.4% of Spanish population) during the last 16 years. It is a retrospective observational study using the population Registry of rare diseases of Navarra (RERNA) and Neuromuscular consultation registry as information sources.… Read More...

F. Munell, S. Ferrer Aparicio, E. Martínez Saez, M. Pérez-Garcia September 11, 2017

Despite intense efforts, no cure is currently available for Duchenne muscular dystrophy and glucocorticoids are the only drug effective for slowing disease progression. In skeletyal muscle, estrogens have been proven to stimulate growth and regeneration and reduce inflammation and fibrosis. We have used young mdx mice to demonstrate that short-term estradiol administration caused a notable decrease in CK levels and improved motor function.… Read More...

K. Rudolf, K. Knak, N. Witting, J. Vissing September 11, 2017

Muscle atrophy and weakness of upper and lower extremity muscles are well characterized in neuromuscular diseases, but involvement of the axial muscles is poorly understood. Since the axial musculature stabilizes and moves the trunk and provides stability for movement of the extremities, knowledge about the axial musculature in patients with neuromuscular diseases is important.… Read More...

B. Ghirotto, F. Vieira Loures, H. Bueno, E. Cangussu, E. Goulart, G. Coatti, E. Caldini, A. Condino-Neto, M. Zatz September 11, 2017

The lack of dystrophin in muscle tissue of Duchenne muscular dystrophy (DMD) patients induces a release of DAMPs, CPK and mRNAs in the extracellular environment which interact with toll-like receptors, triggering an innate immune response, with recruitment of inflammasomes and activation of the NF-kB signaling pathway.… Read More...

E. Niba, R. Yamanaka, M. Abdul Qawee, H. Awano, M. Matsumoto, H. Nishio, M. Matsuo September 11, 2017

Dystrophin inactivation, responsible for Duchenne muscular dystrophy (DMD), is recently implicated as an anti-tumor suppressor factor in cancers with myogenic characteristics. Rhabdomyosarcoma (RMS), a mesodermal cancer, shows myogenic features and occurs at a higher frequency in mdx mouse, a DMD model mouse.… Read More...

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