Skip to main content

Pediatric neuromuscular diseases

Page 2 of 2

  1. Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrati...

    Authors: Michael G. Smith, Julie Royer, Joshua Mann, Suzanne McDermott and Rodolfo Valdez
    Citation: Orphanet Journal of Rare Diseases 2017 12:76
  2. Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearl...

    Authors: C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg and W. L. van der Pol
    Citation: Orphanet Journal of Rare Diseases 2017 12:67
  3. Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to ...

    Authors: Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble and Linda H. Cripe
    Citation: Orphanet Journal of Rare Diseases 2017 12:39
  4. Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and l...

    Authors: C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda…
    Citation: Orphanet Journal of Rare Diseases 2016 11:91
  5. Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each o...

    Authors: Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P. Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary-Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A Sewry…
    Citation: Orphanet Journal of Rare Diseases 2015 10:148
  6. In dystrophin-deficient muscles of Duchenne Muscular Dystrophy (DMD) patients and the mdx mouse model, nitric oxide (NO) signalling is impaired. Previous studies have shown that NO-donating drugs are beneficial i...

    Authors: Daniela Miglietta, Clara De Palma, Clara Sciorati, Barbara Vergani, Viviana Pisa, Antonello Villa, Ennio Ongini and Emilio Clementi
    Citation: Orphanet Journal of Rare Diseases 2015 10:101
  7. Our study aimed to determine the burden of illness in dystrophinopathy type Duchenne (DMD) and Becker (BMD), both leading to progressive disability, reduced working capacity and high health care utilization.

    Authors: Olivia Schreiber-Katz, Constanze Klug, Simone Thiele, Elisabeth Schorling, Janet Zowe, Peter Reilich, Klaus H Nagels and Maggie C Walter
    Citation: Orphanet Journal of Rare Diseases 2014 9:210