|9 March 2001
Location: Naarden, The Netherlands
The ENMC consortium on Neuromuscular Disorders in the Roma population held its first meeting in Naarden, the Netherlands, on March 9-11, 2001. It was attended by 20 active participants from Australia, Bulgaria, France, Germany, Hungary, Italy, The Netherlands, Portugal, Romania, Spain, Slovenia, United Kingdom and the USA. The meeting was inspired by the memory of Serge Reinhardt, a Roma from France, who suffered from a neuromuscular disorder and who stimulated research in this field.
The meeting started with a review of the history and biological background of the Roma, followed by clinical features, neurophysiological and neuropathological findings and genetic investigations of several neuromuscular diseases, common, and in some cases unique to, Gypsies.
The following disorders have been discussed in particular depth, on basis of experience and research done in the different countries: Gamma-sarcoglycanopathy (LGMD2C), Distal Myopathy of Nonaka type, Congenital Myasthenic Syndrome 1a (CMS1a), Hereditary Motor and Sensory Neuropathies types Lom and Russe (HSMN-L and -R), Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Spinal Muscular Atrophy (SMA). In some of these diseases a founder mutation has been discovered. In many cases the underlying protein abnormality is still unknown. Findings were presented from a seven year countrywide survey in Bulgaria among the Roma population on the occurrence of clinical cases of hereditary neuromuscular diseases. A session was dedicated to observations on complex families with independent occurrence of several distinct neuromuscular disorders.
Preventive and epidemiological aspects were discussed, as well as the social context in which these disorders occur, especially regarding the current political changes in the Central and Eastern European Countries.
In the last session priorities for further research and interventions were defined. Among them were the establishment of collaborative studies, the elaboration of protocols and the development of national and international reference centres.
An extended report of the meeting will be submitted for publication in Neuromuscular Disorders.
Dr. Carmen Navarro (Vigo, Spain) and Dr. Luba Kalaydjieva (Perth, Australia)
A full issue of Acta Myologica is dedicated to the above topic
(reference: Acta Myologica Vol XX - December 2001, ISSN 1128-2460)
contacts Acta Myologica:
Gaetano Conte Academy, Viale dei Pini 101 - 80131 Napoli - Italy