Neuromuscular Disorders

J. Afonso Ribeiro, L. Almendra, O. Rebelo, F. Laranjeiro, A. Marmiesse, M. Almeida, M. Peres, A. Geraldo, A. Matos, L. Negrao September 10, 2017

Clinical manifestations of dystrophin gene (DMD) mutations are heterogeneous, ranging from the classic and severe Duchenne muscular dystrophy to asymptomatic individuals with hyperCK. We hereby present a patient with an atypical clinical presentation – distal asymmetric weakness of the upper limbs – caused by a novel mutation in the DMD gene.… Read More...

C. Young, E. Mokhonova, M. Quinonez, A. Pyle, M. Spencer September 10, 2017

Duchenne muscular dystrophy (DMD) is a progressive, degenerative muscle disease, typically caused by out-of-frame mutations in the DMD gene. Potential therapeutic strategies, such as exon skipping or clustered, regularly interspaced, short palindromic repeats (CRISPR) and -associated protein (Cas) 9, aim to restore the DMD reading frame to turn Duchenne into the milder, allelic disease, Becker muscular dystrophy.… Read More...

K. de Valle, E. Yiu, M. Ryan, A. Kornberg, R. Kennedy, D. Villano, K. Carroll September 10, 2017

The hallmark of DMD is progressive weakness and functional difficulties caused by muscle fibrosis resulting in increased stiffness and shortening. A survey in 2012 investigating the use of complementary therapies in our clinic population found that massage was the most commonly used complementary therapy in boys with DMD.… Read More...

S. Krause, S. Reichert, T. Donandt, C. Kalbe, M. Schmuck, N. Klymiuk, B. Kessler, A. Blutke, E. Wolf, B. Schoser, M. Walter September 10, 2017

The development of efficient and safe strategies in gene therapy for Duchenne muscular dystrophy (DMD) remains a huge challenge. Primary myoblast culture models derived from our recently developed large animal model, the exon 52-deficient DMD pig, facilitate to assess various approaches towards dystrophin restoration.… Read More...

M. Sframeli, G. Vita, A. Catalano, M. Distefano, M. La Rosa, C. Barcellona, C. Bonanno, G. Nicocia, C. Profazio, N. Morabito, C. Lunetta, G. Vita, S. Messina September 10, 2017

Low bone mineral density (BMD) and increased fracture risk are frequently observed in Duchenne muscular dystrophy (DMD). Our aim was to explore BMD and bone turn over and to evaluate their main determinants in a cohort of DMD subjects. BMD at lumbar spine, detected by DXA and expressed as Z-score values, C-terminal telopeptide of procollagen type I (CTX) and osteocalcin (BGP), as bone resorption and formation markers respectively, and sclerostin were assessed.… Read More...

L. Bogdanik, K. Carpentier, L. Cantor, C. Lutz September 10, 2017

In Duchenne muscular dystrophy, sarcolemma damage, chronic inflammation, and regeneration of myofibers create a complex cellular environment that inexorably progresses toward muscle tissue loss, fibrosis, and strength reduction. The interplay of these different mechanisms is still incompletely understood: for instance, deciphering which parts of the immune reaction promote regeneration or fibrosis is critical for the refinement of immunomodulatory therapies.… Read More...

B. Wong, J. Signorovitch, S. Hu, J. Bange, I. Rybalsky, K. Shellenbarger, C. Tian, E. Swallow, J. Song, S. Ward September 10, 2017

Ambulatory function is highly variable in Duchenne muscular dystrophy (DMD), even among boys of the same age. In addition, variations in total body mass and lean body mass are typical, and reflect growth as well as muscle atrophy. We measured the extent to which body composition can explain variability in ambulatory function in boys with DMD aged 5–20 years.… Read More...

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...

Andoird App
Loading...