Cyprus/Greece/MaltaCyprusGreeceMalta

Rare genetic disorder

26.11.2005


Nicosia - A rare medical condition has been found to be nine times more prevalent in Cypriots living in Paphos than in the rest of Cyprus or the European Union. Results of research carried out by the Neurology and Genetic Institute in Nicosia into Friedreich's Ataxia show that one in ten people in the Paphos area are carriers, compared to one in 90 in the rest of the island and the EU.
Roula Christodoulou, a geneticist at the Institute, said that, “there is a cluster of families in Paphos who are carriers. Many generations ago, there was probably one founder. Distant relatives, when they married, then had a 25% chance of having an affected child.”
The disorder affects male and female children and is passed down as a recessive gene. This means that the disease will develop in offspring only when both mother and father transmit the recessive Fried reich's Ataxia gene.
The disease is a slowly progressing disorder of the nervous system and muscles and is named after Nikolaus Friedreich, the German physician who first identified it in the early 1860s. It is a degenerative disease which results in an inability to coordinate voluntary muscle movements (ataxia). This condition is caused by degeneration of nerve tissue in the spinal cord and of nerves that extend to peripheral areas such as the arms and legs.
This ataxia also affects the head and neck but unlike other neurological diseases, does not affect mental capacity.
Christodoulou said that, “there is no cure at the moment. Specific symptoms can be treated but this is not really that much of help.”

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