Neuromuscular Disorders

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...

P. Joshi, S. Zierz September 10, 2017

McArdle disease is a common metabolic myopathy with autosomal recessive mode of inheritance. A frequent mutation p.Arg50Ter in the myophosphorylase gene is reported in patients with McArdle disease. We performed a systemic clinical, biochemical and molecular genetic analysis of 58 Caucasian patients (31 males and 27 females; mean age at diagnosis: 37 years) with McArdle disease.… Read More...

F. Ricci, R. Scalco, T. Mongini, G. Ferrero, A. Manole, E. Bertini, M. Desikan, I. Moroni, M. Di Rocco, H. Jungbluth, R. Quinlivan, H. Houlden September 10, 2017

Recessive mutations in TANGO2 result in a rare genetic cause of severe recurrent rhabdomyolysis (RM) associated with encephalopathy and cardiomyopathy. A 3-year-old boy was referred for genetic investigations following two extremely severe RM episodes requiring intensive care unit admissions. The first episode occurred at 13 months most probably triggered by a throat infection and dehydration (CK increase: Day 1: 1,400 IU/L, Day 1 (night): 103,000 IU/L, Day 2: 177,000 IU/L and Day 3: 210,000 IU/L).… Read More...

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