Paula and Bobby
Parents of Lillie
Partington X-Linked Mental Retardation syndrome
What is Partington X-Linked Mental Retardation syndrome?
It is a rare neurological and genetic syndrome. The main features of the syndrome are intellectual disability (usually mild to moderate) and a condition known as dystonia of the hands. Because of how the syndrome is inherited it occurs much more frequently in males than females.
What gene changes cause Partington X-Linked Mental Retardation syndrome?
Changes in the ARX gene are responsible for causing the syndrome. Other syndromes are also caused by mutations in this gene.
The syndrome is inherited in an X-linked recessive pattern.Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
What are the main symptoms of Partington X-Linked Mental Retardation syndrome?
The main symptoms of the syndrome include mild to moderate intellectual disability. Behavioural issues are also common in affected individuals.
Dystonia of the hands, involuntary painful muscle contractions including repetitive movements, is also common.
Dysarthria is another main symptom and this means issues with being able to articulate speech.
Problems with gait, how an individual walks, and seizures are also symptoms of the syndrome.
How does someone get tested for Partington X-Linked Mental Retardation syndrome?
The initial testing for Partington X-Linked Mental Retardation syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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