Allan-Herndon-Dudley syndrome (AHDS)

What is Allan-Herndon-Dudley syndrome (AHDS)?

This rare disease is a genetic inherited condition that affects mainly males, due to the way in which it is inherited.

It primarily affects brain development and in turn intellectual ability. Limited to zero speech development is also a defining feature of this syndrome.

What gene changes cause Allan-Herndon-Dudley syndrome (AHDS)?

The syndrome is an X-linked recessive condition. Mutations in the SLC16A2 are responsible for the condition.

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 Allan-Herndon-Dudley syndrome (AHDS)?

Moderate to severe intellectual disability is a major symptom of the syndrome. This includes the development of zero to limited speech.

Other major symptoms include hypotonia, weakness in the muscles related to under developed muscles, muscle stiffness and involuntary movements. This affects an individual's ability to move and walk, and by adulthood most individuals with the condition are wheelchair bound. It may also cause bowel and urinary incontinence.

Facial features of the condition include a narrow face, large ears and underdeveloped cheekbones.

How does someone get tested for Allan-Herndon-Dudley syndrome (AHDS)?

The initial testing for Allan-Herndon-Dudley 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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