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Doctors detected more cases of a rare disease

posted on: Dec 29 2011 12:31 by RDugey. Viewed 16 times.

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Doctors investigating the causes of rare disease known as "Dystonia neurodegenerative", affecting a group of children in the South, communities have begun to register cases in the country so working on putting up a programme of prevention and counseling genetics.

This was revealed yesterday the Dominican neurologist, Pedro Roa, who carried out the research with a team of foreign experts. He said that this programme will be aimed at people with increased risk of having the genetic mutation that leads to which develops the disease that causes difficulties motorboats.

The specialist was interviewed while participating in a meeting organized by the Fundación Juan Manuel Taveras, where they were delivered wheelchairs to southern children living with this disease. The Chairs provided by the Dominican Rehabilitation Association, were delivered at the headquarters of the Center for advanced medicine u000a(Cedimat), which operates the Foundation.

Said that cases of the Cibao, Santo Domingo, San Cristóbal and the East, which have gradually been detecting had been received. Understands that it is important that the country can count on test to detect preventative purposes so that in future not have cases of the disease, which may be present in children of two carriers.

The investigation determined that the disease is due to a genetic mutation that is characterized by the large amount of iron accumulate in his brain, causing them dystonia and them going by its ability to motor.

The test that determines the presence of this mutation still isn't available in the country, so you have to send it to United States. In addition to receive wheelchairs, patients were invited to enjoy a snack and a walk.



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Doctors detected more cases of a rare disease

posted on: Dec 29 2011 12:31 by RDugey. Viewed 16 times.

Bookmark and Share

Doctors investigating the causes of rare disease known as "Dystonia neurodegenerative", affecting a group of children in the South, communities have begun to register cases in the country so working on putting up a programme of prevention and counseling genetics.

This was revealed yesterday the Dominican neurologist, Pedro Roa, who carried out the research with a team of foreign experts. He said that this programme will be aimed at people with increased risk of having the genetic mutation that leads to which develops the disease that causes difficulties motorboats.

The specialist was interviewed while participating in a meeting organized by the Fundación Juan Manuel Taveras, where they were delivered wheelchairs to southern children living with this disease. The Chairs provided by the Dominican Rehabilitation Association, were delivered at the headquarters of the Center for advanced medicine u000a(Cedimat), which operates the Foundation.

Said that cases of the Cibao, Santo Domingo, San Cristóbal and the East, which have gradually been detecting had been received. Understands that it is important that the country can count on test to detect preventative purposes so that in future not have cases of the disease, which may be present in children of two carriers.

The investigation determined that the disease is due to a genetic mutation that is characterized by the large amount of iron accumulate in his brain, causing them dystonia and them going by its ability to motor.

The test that determines the presence of this mutation still isn't available in the country, so you have to send it to United States. In addition to receive wheelchairs, patients were invited to enjoy a snack and a walk.




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