|Date||13 July 2001|
Location: Naarden, The Netherlands
As many neuromuscular disorders involve brain as well as muscle, the ENMC consortium on cognitive impairment in neuromuscular disorders held its first meeting in Naarden (The Netherlands) on the 13-15 July 2001. It was attended by 15 participants from the United Kingdom, France and Italy. The meeting opened with reviews of the historical background, clinical features, genetic analysis, neuropsychological studies used to define the diseases within this group.
Over the last 10 years several approaches concerning possible correlation between molecular defects in gene mainly responsible for muscular diseases and the cognitive impairment or between neuroradiological analysis and mental retardation have been published. With the aim of identifying the particular characters of neurofunctional, cognitive, psychiatric and visual deficit in neuromuscular disorders, different groups reported a wide spectrum of patients. Possible correlations between gene and protein alterations were discussed in Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Myotonic Dystrophy, Limb-Girdle Muscular Dystrophies, Congenital Myopathies and Mitochondrial Myopathies.
The avalanche of interesting data already present in the literature, needs a formal organization. Our proposal for this workshop on cognitive impairment in neuromuscular disorders aimed to gather a panel of experts, review the available scientific information and find a common strategy of analysis of the patients, establishing the criteria of selection of the patients and define the objectives of shared research projects.
As a first step, the participants agreed to organize themselves into groups whose objectives are to examine how the brain is involved in Duchenne and Becker Muscular Dystrophies. They all agreed on the following aims:
1. to characterize the nature and specificity of the cognitive profiles in these disorders;
2. to answer the outstanding problems in genotype-phenotype correlations (how particular faults in the gene lead to problems in the brain);
3. to use these results to direct further molecular studies;
4. to use these results in the design of therapeutic strategies (including parental guidance, speech therapy, psychotherapy and neurorehabilitation ).
An extended report of this meeting is published in Neuromuscular Disorders, Volume 13, No.1, January 2003
Prof. N. Bresolin (Bosisio Parini (Lecco), Italy)
On behalf of the participants