Neuromuscular Disorders

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...

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

It is known that upper extremity and respiratory functions affect quality of life of children with Duchenne muscular dystrophy (DMD) in late stage. However, the evidence for the relation of these functions in early stage is insufficient in literature. The aim of this study was to determine the relationship between upper extremity and respiratory functions in children with DMD in early stage.… Read More...

F. Muntoni, J. Buchbjerg, E. Bertini, E. Dessaud, E. Mercuri, J. Kirschner, C. Reid, A. Lusakowska, G. Comi, J. Cuisset, J. Abitbol, B. Scherrer, E. Vianna, W. van der Pol, C. Vuillerot, K. Gorni, P. Fontoura September 10, 2017

Growing evidence suggests mitochondrial dysfunction is a key disease mechanism and valid therapeutic target in spinal muscular atrophy (SMA). Olesoxime is an orally-administered, mitochondria-targeting compound that promotes survival and function of motor neurons, muscle and other cell types. This study assessed the efficacy, safety and tolerability of olesoxime in patients aged 3–25 years with Type 2 or non-ambulatory Type 3 SMA (NCT01302600).… Read More...

E. Zapata Aldana, N. Eltayeb, M. Miller, C. Campbell September 10, 2017

Duchene muscular dystrophy (DMD) is the most common form of childhood muscular dystrophy. Clinically DMD is characterized by early onset of progressive muscle weakness, and losing ambulation at a mean age of 9.5 years in patients without corticosteroid regime. The purpose of this study was to examine the hypothesis that short stature is associated with the preservation of ambulation in DMD patients.… Read More...

R. Finkel, E. Mercuri, C. Chiriboga, N. Kuntz, S. Richman, I. Bhan, S. Hughes, R. Foster, W. Farwell, S. Gheuens September 10, 2017

Nusinersen is an antisense oligonucleotide that modulates splicing of SMN2 pre-mRNA. It is administered intrathecally (12-mg equivalent dose) with 3 loading doses at 14-day intervals, a 4th after 30 days, followed by dosing every 4 months (4 doses over the 15-month study in CHERISH).… Read More...

S. Bozgeyik, I. Alemdaroğlu, A. Karaduman, H. Topaloğlu, O. Yılmaz September 10, 2017

The aim of this study was to investigate the relation between postural alignment and energy expenditure in boys with Duchenne muscular dystrophy (DMD) who are in early stage of their disease. Thirty seven children with DMD who were in 1st and 2nd levels according to brooke lower extremity functional classification (BLEFC) were included in the study.… Read More...

L. Cerkovnik, J. Patterson-Kane, K. Ryall, A. Milici, J. Tinsley, S. Moore, C. Faelan September 10, 2017

Continuous expression of utrophin protein by a utrophin modulator could be a disease modifying treatment for Duchenne muscular dystrophy (DMD) patients regardless of their dystrophin mutation. At least 3 biomarkers (a fibre identification biomarker, a regeneration biomarker, and utrophin biomarker) are needed to separate utrophin expression resulting from therapeutic intervention with a utrophin modulator from the pathophysiologic utrophin expression associated with muscle fibre regeneration.… Read More...

Andoird App
Loading...