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Sunday, September 27, 2015

Fragile X Syndrome Symptoms

What is fragile X syndrome?


Fragile X syndrome is a rare congenital defect that occurs in boys and girls. In girls, there are fewer symptoms than boys.

Symptoms of fragile x syndrome:
Boys with fragile X syndrome have:
  1. learning disabilities;
  2. ADHD at an early age;
  3. from puberty a large head, long face and a big jaw;
  4. adulthood autism spectrum disorder;
  5. in adulthood a distinctive way of talking. They talk a lot and quickly, and often repeat words and phrases.
Girls with fragile X chromosome have few symptoms. Usually they only have a mild (or even no) intellectual disability. Often girls are very susceptible to depression.

Parents and doctor are often initially unaware that a child has fragile X syndrome. Only when the development remains very let parents figure out whether something is wrong with their child. The physician will determine the syndrome by doing DNA testing. In fragile-X syndrome operates a gene on the X-chromosome is not. The X chromosome is also at the bottom have a hernia (= fragile piece). Here comes the name fragile X from.

The syndrome is hereditary. The inheritance is very complicated. More information about the genetics of fragile X syndrome is available from a clinical genetics center.

Fragile X syndrome is not curable. With speech therapy, physiotherapy and early intervention / early intervention can have someone be less affected. Lots of structure and predictability help (eg sleeping at regular times, eat, play).

Fragile X Syndrome Symptoms


Is fragile X syndrome inherited?


Fragile X syndrome is hereditary. The inheritance is very complicated.

Fragile X syndrome inherited sex-linked over. This normally means that only boys get sick from their mother. Girls are not sick. But with fragile X syndrome can girls are sick.

What happens exactly? The girl gets the disease gene from her mother. She gets a mild form of fragile X. This is because a maiden still has a gene which is stronger than the diseased gene.
Why the mother is not ill? This is because its gene but is slightly different. This is called a premutation. The problem is that this premutation may change with the children in a full mutation in a full mutation arises fragile X syndrome.
Fathers with a premutation only give the premutation by. With them the premutation does not change into a full mutation. Why this is so is unknown. Fathers give the premutation only to their daughters. That is because the premutation is located on the X-chromosome.

Doctors can check in women during pregnancy with a chorionic villus sampling or the baby has the full mutation.

Carriers of the premutation fragile X syndrome


People with a premutation for fragile X syndrome appear healthy. But has not been discovered so long ago that they still also health problems can get.
Men with a premutation can get after their fiftieth experience the following symptoms:
  1. They go stiff movement (progressive cerebellar ataxia).
  2. They get amnesia.
  3. They can not think properly.
  4. They get shaky hands.
  5. They get parkinsonism.
  6. They suffer from weak muscles in their legs.
  7. They have trouble breathing.
These symptoms are called sometimes together FXTAS. The older the man, the greater the chance of FXTAS. Between 70 and 79 years, 75% of men with a premutation FXTAS.
Also, women with a premutation can cause health problems. These complaints arise for their fortieth year.
  1. They menstruate more than a year because their ovaries malfunction.
  2. Sometimes they move woodenly.
  3. Sometimes they suffer from shaky hands.
About two out of ten women with a premutation develop symptoms.

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