Among the most prominent diseases that cause learning disabilities in the affected people, the Martin-Bell syndrome or Fragile X syndrome deserves a special mention. It is a condition that leads to severe visible physical deformations in the patients and can also affect their mental abilities adversely. It is a disease that affects both women and men and a defect in a gene called FMR1 leads to its occurrence.
On an average, one out of every 4000 female and 1 in every 3600 men from any ethnicity or race can be affected by this malady. This is an inherited disorder in which the defective gene is passed from the body of the parents to their child. The mutation of the gene that causes the syndrome may vary from person to person. People with a trivial alteration in the FMR1 gene show very little symptoms of the ailment where as people with greatly altered gene have severe symptoms in their body.
People affected with this disease have a faulty gene on their X chromosome. In individuals who have a normal variant of this gene, a protein required for the development of the brain is formed. On the contrary, a faulty gene does not generate any protein at all. Since men have single X chromosome they are more susceptible to this menace. Women on the other hand possess another X chromosome so they can get away with mild effects. They can also act as the carriers of the FMR1 gene.
The men affected with a fragile X gene can not pass on it to a son as they can only give a Y chromosome to the male child. But they can transmit it to their daughters since the daughters receive the X chromosome from the father. The women acting as the carrier of the FMR1 gene can pass it to both their daughters and sons. The sons of such women who get the faulty gene have a high chance of developing intellectual limitations later in their life.
As a matter of fact, all victims of Fragile X syndrome do not exhibit identical symptoms. The affected people belonging to the same family can show different symptoms. The symptoms affect the victim’s mental abilities, physical attributes, sensory perceptions and language skills.
The significant effect of this disease is psychological impairment. The IQ levels of the affected people can vary and a person with reduced IQ can face severe hardships in learning. Other important traits include behavioral and emotional problems, hyperactivity and unpredictable mood swings.
Among the physical problems that the ailment causes, large ears and long face are commonplace in the victims. In some affected people, the ears can become protruding and they can have flat feet. Some of them can also have bigger testicles. A victim can also suffer from speech problems. The speech of the victims can be cluttered and other difficulties of pronunciation may also arise. Another severe consequence of this disease is autism.
The syndrome can be identified by a DNA test. The provision of antenatal testing is also there.
Unfortunately, no specific cure is available for the Fragile X syndrome. However, the families of the affected children should provide educational and emotional support to them in order to overcome the difficulties. Often long term rehabilitative measures are essential in order to cure the patient from this malaise.
The doctors feel that further research and understanding of the gene and the underlying causes for its mutation can bring hope for the victims. As of now, the doctors rely on providing specialized education to the affected children. Behavioral therapy can also be implemented in treating patients with severe behavioral limitations. Patients with a record of the disease affecting the ancestors are advised to undergo genetic counseling. This helps them to ascertain the prospect of having kids with the ailment. It also points out how severe the symptoms can become in the next generation.
To sum up there is no proper cure for this genetic ailment. Care should however be taken to make sure that this disease does not pass on to the second generation as then it can assume dangerous proportions.