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Tourette syndrome

Types and clinical signs

This is a neurological syndrome characterized by motor and vocal tics (uttering involuntary sounds and making involuntary movements) and obsessive-compulsive disorder. The motor tics appear before the vocal tics. Seventy-five percent of the patients are males, and signs of the disease start to appear between the ages of 2 and 14 years. In 10 - 30% of cases there is a positive family history. About half the patients have attention disorders that interfere with their studies. According to some authorities, obesity and alcoholism can also be part of the syndrome.

Inheritance pattern

The heredity is most probably multifactorial, although some authorities have suggested that there is one major gene that is autosomal dominant and that is also affected by the environment. Other, less prominent genes may also be involved.

Penetrance

Partial.

Associated features that can be demonstrated in tests performed during pregnancy

There are no known associated defects. This condition cannot be diagnosed in pregnancy.

What is the risk of recurrence in a subsequent pregnancy?

The risk that the siblings of an affected individual will also be affected is 10% if the affected sibling has full Tourrette syndrome or a compulsive disorder, and 20% if the affected sibling has chronic tics.

Genetic molecular information

The gene for the disease

This is not known - it is speculated that there are a number of different genes and an environmental effect.

Location

In one family, a possible location for the gene for Tourrette syndrome was found on chromosome 11q23. This, however, has not been found in other families. There may be involvement of other genes including genes situated on chromosomes 4 and 8.

Genetic testing

Diagnostic testing

This is not available. In families with affected members, a study for mapping the gene can be considered. See information sheet: Indirect testing for genetic markers in a family with one or more patients in the family - when there are a number of different genes that can each cause the disease - the gene or most of the genes have not yet been located / identified / mapped - autosomal dominant disease.

Carrier testing

As for diagnostic testing.

Fetal testing

As for diagnostic testing.
 
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Comments (17)


Monday, January 26, 2015 12:06 AM
(1) asasas  says:


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Innate as well as the environmental variables be involved from the etiology connected with Tourettes, but the particular reasons tend to be unidentified. Normally, medication is pointless.


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These tics naturally wax and melt away, can be smothered incidentally, and are gone before by a sinister urge. Tourette's is characterized as a feature of a range of tic issue, which incorporates temporary, transient and tireless tics.


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