Congenital Muscular Dystrophy (CMD)

Number 114
Date 17 January 2003

9th Workshop of the International consortium on CMD/3rd Workshop of the MYO CLUSTER project GENRE

The ENMC Consortium on Congenital muscular dystrophy (CMD) held its 8th meeting in Narden during the weekend of the 17th-19th January 2003. It was attended by 25 participants from 9 countries, including Austria, Finland, France, Germany, Italy, The Netherlands, Turkey, United Kingdom and USA. This workshop was sponsored by the European Community as part of the Myocluster project GENRE. The participants were basic scientists with biochemical and molecular biology background, and clinicans and muscle pathologists, all sharing a substantial expertise in neuromuscular disorders.

Congenital muscular dystrophies (CMD) are a heterogeneous group of disabling neuromuscular disorders inherited as autosomal recessive conditions. Affected children present with muscle weakness and hypotonia at birth, or within the first six months of life and motor development is delayed. The severity and progression of the disease is very variable and dependent on the disease subtype. Brain involvement in the form of mental retardation and abnormal formation of different parts of the brain is a feature of several forms of CMD.

The present meeting focused on a group of CMD syndromes characterized by deficiency in proteins with enzymatic activity (glycosyltransferases). These proteins are believed to play a role in adding sugars to dystroglycan, a molecule that plays a central role in the organisation of the muscle fibre. The involvement of several putative glycosyltransferases represents a novel mechanism of disease that is believed to be responsible for 4 subtypes of CMDs (Walker-Warburg syndrome, Fukuyama CMD, Muscle Eye Brain disease and MDC1C / LGMD2I); and a related disorder that occurs spontaneously in mice. In addition, a similar mechanism of disease is likely to play a role in a number of other CMD syndromes in which the primary defect is unknown, suggesting that deficiency of glycosyltransferases plays a major role in the pathogenesis of CMD.

The widening spectrum of the conditions due to a known gene defect was presented by various participants, together with novel data regarding the spectrum of the pathological changes in muscle and brain.

Strategies aimed at reaching a final diagnosis in each of these conditions were discussed, together with novel therapeutic approaches to animal models. A number of collaborative studies were agreed.

An extended report of this meeting is published in Neuromuscular Disorders, Volume 13, No. 7-8, September 2003.

Prof. Francesco Muntoni (London, UK)
Dr. Pascale Guicheney (Paris, France)
Chairpersons, CMD consortium