Nemaline Myopathy Support Group


European NeuroMuscular Center (ENMC)

International Consortium on Nemaline Myopathy

161st ENMC International Workshop: Nemaline myopathy and related disorders

20 doctors and scientists from 7 countries gathered in Newcastle-upon-Tyne on the 28th and 29th September 2008, for the seventh ENMC Workshop on nemaline myopathy and related disorders. A representative of the patient group “A Foundation Building Strength” gave a presentation at the start of the Workshop. This Workshop was held to coincide with the Annual Scientific Meeting of the World Muscle Society. The main themes of the Workshop were: continued gene discovery; better definition of clinical entities; animal and tissue culture models of nemaline myopathy; preliminary experimental investigation in model systems of possible therapeutic strategies; locus-specific mutation databases; establishing databases in preparation for anticipated future clinical trials and finally discussion on better methods for molecular analysis of the known nemaline myopathy and related disorders disease genes, especially nebulin. Expected major efforts in the near future include further analysis of possible therapies, development of additional animal models in which to investigate therapies and the implementation of the databases in order to be ready for any future clinical trials. The Workshop participants recognise that a multinational approach to these rare disorders is essential, especially in relation to enrolling patients in any future clinical trials.

A detailed report of these conclusions, including the guidelines, is published in Neuromuscular Disorders (pdf)


138th ENMC International Workshop: Nemaline Myopathy

Twenty 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.

An extended report of this meeting is published in Neuromuscular Disorders (pdf).

This workshop was organised by Dr. C. Wallgren-Petterson (Helsinki, Finland) and Dr. N. Laing (Nedlands, Western Australia)

TEAM ENMCAndoni 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

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 Prof.. 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 ENMC workshop report from 2000. Several articles about NM.


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.

European NeuroMuscular Center (ENMC)


European Neuromuscular Centre
Lt.Gen. van Heutszlaan 6
3743 JN Baarn
The Netherlands

tel: + 31 35 5480481
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