Diseases

Martin Bell Syndrome

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The disease is a genetic disorder, consisting of mental retardation. In 1969 the changes characteristic of this disease in chromosome x (fragility in the distal shoulder) were revealed. In 1991 scientists have discovered a gene that is responsible for the development of this disease. This ailment is also called the "fragile chromosome-x syndrome." The disease affects both boys and girls, but more often (3 times) boys are ill.

SYMPTOMS

The sick child has significant mental retardation in comparison with the development of other peers
Attention and focus disorders
Strong stubbornness
Children quite late start to walk and talk
There are hyperactivity and disturbances in speech development
Very strong and uncontrolled bouts of anger
Can develop a mutism - this is the complete absence of a child's speech
The kid feels social anxiety, is able to panic because of loud noise or any other strong sounds

CAUSES

The martin-bella syndrome develops due to the complete or partial cessation of the production of a specific protein by the body. This is due to the lack of response from a gene like fmr1, localized in the x chromosome. Mutation occurs as a result of rearrangement of the structure of the gene from unstable structural variants of gene states (alleles), and not from the very beginning. The disease is transmitted only through the male line, with which a man may not necessarily be sick. Male carriers, transmit the gene to their daughters in unchanged form, so their mental retardation is not obvious. With the further transfer of the gene from the mother to her children, the gene mutates, and then all the signs characteristic of this disease appear.