Neuromuscular disorders in gypsies

Number 125
Date 23 April 2004

The ENMC hosted a group of experts on neuromuscular disorders in Gypsies. 8-10 Million Gypsies (Roma) live across Europe with largest numbers in Eastern Europe (Bulgaria, Hungary, Romania). This was the second Workshop on "Neuromuscular Disorders in Gypsies" based on the results of the first (91th ENMC) which led to coordinated research and the identification of gene defects, specific to this population. The main aim of the Workshop was to discuss population genetics and epidemiology of the Roma people, genotype-phenotype correlations of 5 different Roma disorders (hereditary motor sensory neuropathy type Lom, hereditary motor sensory neuropathy type Russe, congenital cataracts facial dysmorphism neuropathy syndrome, congenital myasthenic syndrome, hereditary inclusion body myopathy), phenotypes and genetics of several disorders with so far unidentified gene defect, and further coordinated research. The Workshop was attended by 20 participants from 14 countries (Australia, Austria, Bulgaria, Hungary, France, Germany, Italy, Japan, Portugal, Spain, The Netherlands, Turkey, United Kingdom and Yugoslavia). Participants included geneticists, neurologists, pediatricians, and an ophthalmologist. Agreement was reached on coordinated research into genetic causes of neuromuscular disorders in gypsies, phenotype-genotype correlations, and measures to improve health care in gypsy populations across Europe. This will be facilitated by a website open to participants of the workshop and by central, diagnostic services to be established.

An extended report of this meeting will be submitted for publication in Neuromuscular Disorders. Please click here for access to the extended report.

Prof. Luba Kalaydjieva (Australia)
Prof. Luciano Merlini (Italy)
Prof. Hanns Lochmüller (Germany)