Neuromuscular Disorders

A. Mele, F. Sanarica, F. Rana, R. Capogrosso, P. Mantuano, A. De Luca September 10, 2017

Taurine (Tau) is the most abundant free amino acid in heart and skeletal muscle. In these tissues Tau is involved in normal contractile function by regulating the calcium homeostasis and the calcium sensitivity of the contractile proteins. Preclinical studies in mdx mice disclosed promising effects of Tau as a countermeasure for the early alterations of skeletal muscle in Duchenne muscular dystrophy (DMD).… Read More...

D. Lacourt, K. Yauy, U. Walther-Louvier, R. Juntas-Morales, C. Cances, C. Espil, G. Sole, M. Arné-Bes, P. Cintas, E. Uro-coste, M. Martin Negrier, V. Rigau, E. Bieth, C. Goizet, M. Koenig, F. Rivier, M. Cossée September 10, 2017

We developed, in collaboration with medical teams of the French South-West Reference Center of neuromuscular disorders, a next generation sequencing (NGS) diagnostic strategy of a large panel of genes. In addition to 76 genes implicated in myopathies and muscular dystrophies (M-MDs), 67 genes involved in other neuromuscular phenotypes (congenital myasthenia…) were added, to detect potential atypical cases.… Read More...

C. Keefe, B. Wong, I. Rybalsky, K. Shellenbarger, C. Tian, J. Khoury, L. Hornung, M. Rutter September 10, 2017

Glucocorticoid therapy slows disease progression in Duchenne muscular dystrophy (DMD), but causes significant adverse effects, including delayed puberty or hypogonadism, obesity, insulin resistance and osteoporosis. Lack of puberty or hypogonadism further increases risk for osteoporosis and affects quality of life, but is not consistently addressed in DMD care.… Read More...

M. Neri, R. Selvatici, M. Falzarano, C. Trabanelli, A. Ravani, P. Rimessi, M. Fabris, C. Scotton, A. Mauro, F. Fortunato, H. Osman, R. Rossi, A. Armaroli, B. Buldrini, S. Fini, F. Gualandi, x. Clinical Study Group, A. Ferlini September 10, 2017

Dystrophinopathies are a group of allelic diseases caused by mutation in the dystrophin (DMD) gene: Deletions (~65%), duplications (~10%), small mutations (25%) and deep intronic mutations and complex rearrangements (~1%). Many exceptions do exist to the reading frame rule and a fine genetic characterization is mandatory for providing genetic diagnosis and making patients eligible for novel personalized trials.… Read More...

T. Saito, K. Ogata, T. Takahashi, M. Kobayashi, T. Takada, S. Kuru, T. Mikata, T. Matsumura, T. Fukudome, M. Funato, H. Arahata, N. Yonemoto, E. Kimura September 10, 2017

Conventional multidisciplinary care has prolonged the lifespan of Duchenne muscular dystrophy (DMD) patients. To examine factors related to their survival, we planned collaborative investigation. We examined age at registration (in alive cases), death (in death cases), gain (GoA) and loss of (LoA) ambulation, introduction of non-invasive (NIV) and tracheal (TIV) ventilation, and starting ACE inhibitor (ACEI) and beta-blocker (BB) administration, as well as cause of death in 312 DMD patients (235 alive, 68 died, 9 to be confirmed, mean age at enrollment 25.4 years for alive cases).… Read More...

L. Heskamp, M. Marra, K. Mul, B. van Engelen, N. Verdonschot, A. Heerschap September 10, 2017

Patients with facioscapulohumeral dystrophy (FSHD) experience muscle weakness, which is associated with fat infiltration and atrophy. However, it remains unclear whether the specific muscle strength, i.e. the strength per unit area of actual muscle tissue, is also reduced in FSHD. Our aim was to asses if specific muscle strength is reduced in FSHD patients, as compared with healthy controls.… Read More...

G. Aydın, I. Alemdaroğlu, A. Karaduman, H. Topaloğlu, O. Yılmaz September 10, 2017

Kinesiological taping is a taping technique usually used for facilitating the muscles of athletes and patients with orthopaedic diseases. The purpose of this study was to investigate the acute effect of kinesiological taping on performance and energy consumption in patients with Duchenne muscular dystrophy (DMD).… Read More...

K. Kim, J. Lee, H. Park, H. Shin, H. Kim, Y. Choi September 10, 2017

Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy characterized by an asymmetric descending progression starting in the face and shoulder-girdle muscles. Here, we present a Korean FSHD patient with eight D4Z4 repeat units and FAT1 mutation. A 59-year-old woman visited our neurologic clinic due to progressive shoulder girdle muscles weakness and proximal leg weakness for 3 years.… Read More...

H. Arahata, T. Nishiyama, K. Inada, A. Miyoshi, A. Watanabe, Y. Kawano, N. Sasagasako, N. Fujii September 10, 2017

Patients with some neuromuscular disorders experience gradual deterioration in eating and swallowing functions and eventually require tube feeding. Our hypothesis was that percutaneous endoscopic gastrostomy (PEG) in patients with Duchenne muscular dystrophy (DMD) can contribute to improvement of their general condition, as is seen in patients with amyotrophic lateral sclerosis (ALS).… Read More...

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