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Young couples from Paphos advised to get checked for rare disease before having kids

The Cyprus Institute of Neurology and Genetics (CING)

Young couples, especially from Paphos, ought to get tested before deciding to have children to discover if they are at a high risk of having a child with the rare Ataxia disease, the Institute of Neurology and Genetics (CING) said on Tuesday.

In a written statement to mark International Ataxia Awareness Day – September 25 – CING said that in Cyprus high rates of patients have been identified in the Paphos district. Following a study in 2001-2002 it was found that about one in 12 people are carriers in the wider Paphos district. The frequency of carriers in European populations ranges between one in 50 to one in 100 people.

CING said that it has been conducting research programmes and offering diagnostic molecular examinations for this rare disease for the past 30 years. In cooperation with the health ministry, in 2010 it introduced the National Programme for the Prevention of Friedreich’s Ataxia.

Through the national programme, young couples from the Paphos district are being examined to identify carriers of the disease and to provide them with appropriate information. It is recommended that those who originate from Paphos, CING said, get examined before deciding to have children.

Ataxia is a neurodegenerative disease that has as its main symptom the lack of coordination of movement. It usually starts with walking instability and as it advances, hand movement is affected and speech difficulty occurs. Symptoms vary per person and type of ataxia, as well as the onset age and over the course of the disease. Patients’ lives are significantly affected as they usually end up in a wheelchair and cannot take care of themselves.

Ataxia, CING said, may be hereditary or caused by other diseases or environmental effects.

“Friedreich’s ataxia is inherited in an autosomal submissive way where two parent carriers of the mutation have a 25per cent chance of having a child who will manifest the disease,” it said.

Carriers, it said, do not present symptoms of the disease and thus may not be aware they are carriers.

Several families of other rarer types of hereditary disorder have also been identified in the Cypriot population. “For some of these, the pathogenic mutation has already been identified, while for others the study is still ongoing. Mutations have been found in several genes, and family members are now being checked to ensure that they are properly informed,” it said.

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