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Pediatric neuromuscular diseases

  1. Content type: Research

    The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a proxi...

    Authors: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr…

    Citation: Orphanet Journal of Rare Diseases 2019 14:179

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  2. Content type: Research

    Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different or...

    Authors: Kirsten König, Astrid Pechmann, Simone Thiele, Maggie C. Walter, David Schorling, Adrian Tassoni, Hanns Lochmüller, Clemens Müller-Reible and Janbernd Kirschner

    Citation: Orphanet Journal of Rare Diseases 2019 14:152

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  3. Content type: Research

    Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients’ real needs. However, its practical implementation is not as a...

    Authors: Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller and Raffaella Willmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:126

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  4. Content type: Research

    X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined ...

    Authors: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke…

    Citation: Orphanet Journal of Rare Diseases 2019 14:105

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  5. Content type: Research

    Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. ...

    Authors: Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith and Holly L. Peay

    Citation: Orphanet Journal of Rare Diseases 2019 14:102

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  6. Content type: Research

    Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD ...

    Authors: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong and Yun Yuan

    Citation: Orphanet Journal of Rare Diseases 2019 14:43

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  7. Content type: Research

    The progressive cardiomyopathy that develops in boys with Duchenne and Becker muscular dystrophy (DMD/BMD) is presumed to be a secondary consequence of the fibrosis within the myocardium. There are only limite...

    Authors: Roman Panovský, Martin Pešl, Tomáš Holeček, Jan Máchal, Věra Feitová, Lenka Mrázová, Jana Haberlová, Alžběta Slabá, Pavel Vít, Veronika Stará and Vladimír Kincl

    Citation: Orphanet Journal of Rare Diseases 2019 14:10

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  8. Content type: Research

    Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidl...

    Authors: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime and Hanns Lochmüller

    Citation: Orphanet Journal of Rare Diseases 2018 13:211

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  9. Content type: Research

    Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hyp...

    Authors: Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri…

    Citation: Orphanet Journal of Rare Diseases 2018 13:170

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  10. Content type: Research

    Exon skipping has been considered a promising therapeutic approach for Duchenne muscular dystrophy (DMD). Eteplirsen received conditional approval in the United States in 2016. To date, no systematic reviews o...

    Authors: Yuko Shimizu-Motohashi, Terumi Murakami, En Kimura, Hirofumi Komaki and Norio Watanabe

    Citation: Orphanet Journal of Rare Diseases 2018 13:93

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  11. Content type: Research

    Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates o...

    Authors: Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook and W. Dana Flanders

    Citation: Orphanet Journal of Rare Diseases 2017 12:175

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  12. Content type: Review

    Since the identification of the first disease causing mutation in the gene coding for emerin, a transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants have been found in genes ...

    Authors: Alexandre Janin, Delphine Bauer, Francesca Ratti, Gilles Millat and Alexandre Méjat

    Citation: Orphanet Journal of Rare Diseases 2017 12:147

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  13. Content type: Review

    Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable prese...

    Authors: Ingrid E. C. Verhaart, Agata Robertson, Ian J. Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C. Jones, Suzanne F. Cook and Hanns Lochmüller

    Citation: Orphanet Journal of Rare Diseases 2017 12:124

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  14. Content type: Review

    Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capa...

    Authors: Cara A. Timpani, Alan Hayes and Emma Rybalka

    Citation: Orphanet Journal of Rare Diseases 2017 12:100

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  15. Content type: Review

    Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidem...

    Authors: S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain and J. Kleijnen

    Citation: Orphanet Journal of Rare Diseases 2017 12:79

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  16. Content type: Research

    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

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  17. Content type: Review

    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

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  18. Content type: Research

    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

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  19. Content type: Research

    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

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  20. Content type: Research

    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

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  21. Content type: Research

    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

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  22. Content type: Research

    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

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