Fragile-X syndrome: everyday life of those affected in the focus of society

Fragile-X syndrome: everyday life of those affected in the focus of society

In Germany, around 25,000 families are affected by the fragile-X syndrome, the most common genetic cause of intellectual disability and autism. This syndrome occurs primarily in men and not only leads to reduced intelligence, but also includes numerous accompanying symptoms. The genetic background is a mutation on the X chromosome, which belongs to the FMR1 letter chain. In the case of a break in this area, a kind of "fragility", the syndrome can arise, such as different sources, including lvz.de , illustrate.

symptoms can range from cognitive developmental disorders to somatic abnormalities such as long faces and large ears. In addition, learning difficulties and delayed language development can be found frequently. According to Doccheck there are no healing facilities for those affected, the therapy is limited to the relief of the symptoms. The FMR1 gene is the focus of medical care and should be checked by molecular genetic examinations.

Interest communities involved

In Germany, a nationwide interest group is committed to the rights and concerns of those affected. Under the direction of Nicole Schmidt from Taucha, this group tries to raise awareness of fragile-x syndrome and to promote the exchange between families. The exchange is particularly valuable support for relatives, such as PMC notes.

An interesting detail is the genetic antipection, which shows that the disease often occurs more and earlier in subsequent generations. In men with fragile-X syndrome, sons have no risk of inheriting the disease, while daughters are mostly carriers of the premutation or full mutation-an extremely complex genetic braid.

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