Neuromuscular disorders in the Gypsy ethnic group. A short review

Abstract

The Roma (Gypsies) are a transnational minority with an estimated population of 10 to 14 million, 8 of which reside in Europe, scattered between the Balkans and Western countries. Similar to other genetically isolated founder populations, the Roma harbour a number of unique or rare autosomal recessive disorders, caused by "private" founder mutations. These genetically homogeneous populations are a unique resource for research into disease phenotypes, genotype/phenotype correlations and possible factors modifying clinical severity. Regarding neuromuscular diseases, the following have been identified: limb girdle muscular dystrophy type 2C also called gamma-sarcoglycanopathy, congenital myasthenic syndrome type 1a, spinal muscular atrophy, and three novel hereditary sensorimotor neuropathies, namely -Lom, -Russe and the congenital cataracts facial dysmorphism neuropathy syndrome. In 1996, a novel demyelinating neuropathy in the Roma was described and the gene was mapped in 8q24. Almost simultaneously, a founder mutation in the gamma-sarcoglycan gene in a group of 24 Romani patients from France, Spain and Italy was discovered by a different group of researchers. The cooperation between these two groups and people from several European countries was fruitful, and in 2001 the 91st Workshop of the European Neuromuscular Center was organized to discuss the above-mentioned diseases in the Roma. Full papers on each of the topics were subsequently published in the 20th Anniversary volume of Acta Myologica, in December 2001. Here, we present a short review of neuromuscular disorders in Gypsies and we discuss the perspectives and future for further studying and research.