European NeuroMuscular
Center (ENMC)
International Consortium on Nemaline Myopathy
ENMC
Andoni Urtizberea(Research Director of the ENMC), Pradeep Luther, Nigel Laing,
Norma Romero, Lars-Eric Thornell, Claudio Graziano, Martin Lammens, Kati Donner,
Steve Marston,
Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Caroline Sewry, Kristen
Nowak, Hans Goebel, Alan Beggs, Edna Hardeman, Kathy North, Biljana Ilkovski,
Anthony Kee, Katarina Pelin, Olli Carpén
20 doctors and scientists from 9 countries gathered in Naarden, The Netherlands, from 20th-22nd May 2005 for the sixth ENMC workshop on nemaline myopathy.
The sixth workshop was marked by discussion of disease processes, analysis of nemaline bodies in cell culture and animal models of nemaline myopathy based on genes previously identified as causing the disorder. One of the animal models has been investigated for the effects of exercise on muscle function after immobilisation, with the results supporting the beneficial effect of exercise after immobilisation. Further analysis of the genes identified for nemaline myopathy is ongoing. Mutations of actin account consistently for 20-25% of nemaline myopathy. The commonest cause of nemaline myopathy remains mutations in the giant nebulin gene for which mutation detection continues to be a technical challenge. Identifying further nemaline myopathy genes is a constant goal of the Consortium.
The Consortium had been asked to address the issue of steroid use in nemaline myopathy. After discussion the Consortium agreed that there was insufficient information to support a recommendation and has concerns as to potential adverse effects especially in the treatment of very young children. Members of the Consortium are to further investigate the issue. Any potential benefit of L-tyrosine has also not yet been adequately validated. To properly address the efficacy of any treatment there needs to be multi-centre, well co-ordinated clinical trials.
The multinational and multidisciplinary approach necessary for tackling rare
muscle disorders remains the focus of the Consortium. The Consortium recognises
that the aim for the next, perhaps considerable number of years, is to work
towards effective treatments for the various nemaline myopathies, possibly based
on approaches being investigated for the more common muscular dystrophies. An
important part of management of nemaline myopathy patients is monitoring of
respiratory function and implementation of respiratory support where necessary,
the recommendations for which were published in the report of the 117th ENMC
workshop: ventilatory support in congenital neuromuscular disorders.
Dr. Carina Wallgren-Pettersson
Eighteen participants from Austria, Denmark, Finland, France, Germany, The
Netherlands, the UK, and the USA met in Naarden, representing a variety of disciplines
with experience in the respiratory management of patients with neuromuscular
diseases. As much data exists on the natural history and management of respiratory
impairment in DMD, this meeting concentrated on other childhood neuromuscular
diseases including the congenital muscular dystrophies, spinal muscular atrophy
type 2 and the congenital myopathies. The accumulated experience of the group
included over 500 patients with these disorders, of whom overall around one
third were receiving some kind of ventilatory support.
The aims of this workshop were two-fold. The first was to improve the situation
for patients around the world with respiratory problems due to neuromuscular
disorders who may not currently be receiving adequate medical attention. This
was addressed by defining the scope of the respiratory problems in these disorders
and by developing practically applicable guidelines for the diagnosis and treatment
of respiratory insufficiency in this group of patients. The guidelines were
developed at the workshop based on review of the published evidence base and
the experience and current clinical practise of the assembled expert group.
A set of guidelines for the assessment and treatment of these diseases was generated
and will be published in Neuromuscular Disorders. An important message of the
workshop was that patients with these disorders may be at risk of respiratory
problems but proper management of these problems can be very effective.
The second aim was to address the current shortages of sound scientific data
on the efficacy of assessment techniques, prophylactic measures and various
modes of treatment for respiratory insufficiency due to neuromuscular disorders,
in particular for children with congenital conditions.
Dr. Carina Wallgren-Pettersson
Published Reports
The European Neuromuscular Center has sponsored workshops for the (ENMC) International Consortium on Nemaline Myopathy. The Consortium, co-ordinated by Dr. Carina Wallgren-Pettersson, Finland, and Dr. Nigel Laing, Australia, published a review in the Journal of Medical Genetics, 1997. NEMALINE MYOPATHY - CURRENT CONCEPTS was written by Dr. Kathryn North. Due to copyright restrictions it is not possible to post the article on these pages, but I can pass on a copy by email in Microsoft Word or plain text format. Just email me. davidmcd_@hotmail.com
http://www.enmc.org/workshops/reports.cfm?p=47 ENMC workshop report from 2000. International collaboration is crucial for research into rare,
but global disorders, such as nemaline myopathy. We are collaborating with research
groups in Australia, Brazil, Canada, Finland, France, Germany, Italy, Japan,
The Netherlands, Spain, Sweden, UK, and USA. To promote research into nemaline
myopathy and elucidate its clinical and genetic heterogeneity, the ENMC International
Consortium on Nemaline Myopathy was formed in February 1996. The Consortium
has 26 members from 11 countries.
Dr. Carina Wallgren-Pettersson
|
Dr. Alan Beggs |
Prof. Susan T. Iannaccone |
|
| Dr. Avril Castagna Department of Pediatrics The Hospital for Sick Children Toronto Canada |
||
| Prof. Victor Dubowitz Hammersmith Hospital Department of Paediatrics and Neonatal Medicine London United Kingdom |
Dr. Heinz Jungbluth Hammersmith Hospital Department of Paediatrics and Neonatal Medicine London United Kingdom |
Dr. Caroline Sewry Hammersmith Hospital Neuromuscular Unit Department of Paediatrics and Neonatal Medicine London United Kingdom |
| Dr. Kathryn North Neurogenetics Research Unit Royal Alexandra Hospital for Children Parramatta Australia |
Dr. Anthony Akkari The Australian Neuromuscular Research Institute Molecular Neurogenetics Laboratory Queen Elizabeth II Medical Centre Nedlands Western Australia |
Dr. Edna Hardeman Children's Medical Research Institute Wentworthville Australia |
| Prof.
Nigel G. Laing The Australian Neuromuscular Research Institute Molecular Neurogenetics Laboratory Queen Elizabeth II Medical Centre Nedlands Western Australia Prof. Laing is co-convener, of the ENMC International Consortium on Nemaline Myopathy. |
Dr. Kristen Nowak The Australian Neuromuscular Research Institute Molecular Neurogenetics Laboratory Queen Elizabeth II Medical Centre Nedlands Western Australia |
|
| Dr. Carina Wallgren-Pettersson Department of Medical Genetics University of Helsinki Biomedicum Helsinki and the Folkhälsan Department of Medical Genetics Helsinki Finland Dr. Wallgren-Pettersson is co-convener, of the ENMC International Consortium on Nemaline Myopathy. |
Dr. Olli Carpén Department of Pathology University of Helsinki Biomedicum Helsinki Finland |
Dr. Katarina Pelin Department of Medical Genetics University of Helsinki Biomedicum Helsinki Finland |
| Prof. Lars-Eric Thornell Department of Anatomy University of Umeå Sweden |
||
| Dr. Marc Fiszman INSERM U153 - Institut de Myologie Hôpital Pitié-Salpetrière Paris France |
Dr. Norma Romero INSERM U 153 - Institut de Myologie Hôpital Pitié-Salpetrière Paris France |
|
| Dr. Baziel van Engelen Neuromuscular Centre Nijmegen Institute of Neurology University Medical Centre Nijmegen The Netherlands |
Dr. Martin Lammens Pathologie Academisch Ziekenhuis Nijmegen The Netherlands |
|
| Prof. Hans H. Goebel Department of Neuropathology University of Mainz Germany |
Dr. Siegfried Labeit European Molecular Biology Laboratory Heidelberg Germany |
|
| Dr. Claudio Graziano Department of Clinical Physiopathology Human Genetics Unit University of Florence Italy |
Dr. Berardino Porfirio Department of Clinical Physiopathology Human Genetics Unit Florence Italy |
|
| Dr. Carmen Navarro Hospital do Melxoeira Servicio de Anatomia Patologica Vigo Spain |
||
| Dr. Mariz Vainzof Department of Biology IBUSP University of Sao Paulo Sao Paulo Brazil |
||
| Dr. Ikuya Nonaka National Institute of Neuroscience National Center of Neurology & Psychiatry Tokyo Japan |
||
Bibliography of papers published by the ENMC
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