R. Rehmann, L. Schlaffke, R. Kley, M. Vorgerd, M. Tegenthoff September 14, 2017

The purpose of this study is to compare two methods of muscle segmentation to assess muscle volumes in human calf muscles. In this prospective cross-sectional study, we evaluated lower leg muscles of 18 healthy volunteers (9 females, mean age 27.6 ± 3.8 years) using muscle diffusion tensor imaging (DTI) and tractography.… Read More...

R. Leary, A. Oyewole, N. Goemans, H. Dawkins, C. Campbell September 14, 2017

The global TREAT-NMD Alliance facilitates translational research and accelerates the development of therapies for patients with neuromuscular diseases (NMD). Key tools in this effort are the TREAT-NMD Duchene muscular dystrophy (DMD) and spinal muscular atrophy (SMA) global registries which collect data at multiple national sites, from over 40 countries across Europe, North America, Asia, Australasia and South America.… Read More...

M. Gomez-Garcia de la Banda, A. Felipe-Rucian, D. Gomez, M. Gratacos, A. Sanchez-Montañez, F. Gran, S. Bernal, E. Tizzano, J. Gamez, F. Munell September 14, 2017

Mutations in immunoglobulin µ-binding protein 2 gene (IGHMBP2) had been linked to spinal muscular atrophy with respiratory distress (SMARD1) and other less severe phenotypes. We present 4 patients with genetically confirmed IGHMBP2 mutations showing phenotypic heterogeneity. The first two cases with early onset SMARD1 phenotype corresponded to one boy and one girl that presented intrauterine growth retardation, early hypotonia and progressive respiratory distress with distal weakness.… Read More...

L. Cowen, M. Mancini, A. Lucas, A. Martin, J. Lavigne, J. Donovan September 14, 2017

DuchenneConnect, established by PPMD in 2007, is the largest US-based patient-report registry for Duchenne muscular dystrophy. Patient registries assist in clinical development by understanding current practice, providing insight for protocol feasibility and improving protocol design, while also connecting patients with actively recruiting trials.… Read More...

M. Jędrzejowska, E. Dębek, P. Halat, A. Kostera-Pruszczyk, A. Jezela-Stanek, E. Ciara, M. Rydzanicz, P. Gasperowicz, M. Gos September 14, 2017

Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential vanilloid 4 (TRPV4) gene. It is characterized by scapuloperoneal weakness and congenital contractures. Herein, we present two Polish SPSMA families harboring the same p.Arg269His mutation in TRPV4.… Read More...

M. Jokela, S. Penttilä, B. Udd September 14, 2017

SOD1 mutations are the second most common cause of familial amyotrophic lateral sclerosis worldwide after the C9orf72 hexanucleotide expansion mutation. Some SOD1 mutations cause atypical phenotypes with slow progression, reduced penetrance or a purely lower motor neuron disease. Most mutations show autosomal dominant inheritance, but recessive inheritance has also been described and indeed the atypical ALS caused by homozygous p.D91A mutations is the most common form of SOD1 ALS in Finland.… Read More...

D. Vlodavets, D. Reshetov, O. Germanenko, S. Artemieva, I. Shulyakova, O. Shidlovskaya, A. Monakhova, F. Vitrensky, D. Kazakov, E. Litvinova, A. Tikhonov, E. Belousova September 14, 2017

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder with progressive loss of motor neurons in anterior horns of the spinal cord and progressive muscle wasting that leads to early death due to respiratory failure. We present SMA registry in Russian Federation that was hold by SMA Family Foundation and Russian Children Neuromuscular Center.… Read More...

H. Zhou, M. Scoto, F. Catapano, I. Zahariewa, F. Muntoni September 14, 2017

Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, resulting from homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). MicroRNAs (miRNAs) are a class of small (~22nt) endogenous non-protein-coding RNA molecules that post-transcriptionally regulate gene expression.… Read More...

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