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Allan-Herndon-Dudley Syndrome (AHDS)

What is Allan-Herndon-Dudley syndrome?

Allan-Herndon-Dudley syndrome (AHDS) is a brain development disorder that causes severe intellectual disability and movement problems almost exclusively in males. This condition disrupts development from even before birth.

What causes Allan-Herndon-Dudley syndrome?

AHDS is caused by mutations in the SLC16A2 gene, which is a gene that affects brain development, and these mutations are inherited in an X-linked recessive manner.

What are the symptoms of Allan-Herndon-Dudley syndrome?

Besides the intellectual disability and problems with movement that are characteristic of the disease, patients with AHDS also have the following symptoms:
  • Impaired speech and limited communication abilities
  • Weak and underdeveloped muscle tone
  • Joint deformities
  • Abnormal muscle stiffness and involuntary movements
  • Bowel incontinence

How is Allan-Herndon-Dudley syndrome diagnosed?

AHDS is diagnosed using the patient’s medical history, an evaluation of his symptoms, a physical exam, and laboratory tests. Some of these laboratory tests include:
  • Molecular genetic testing
  • Thyroid-hormone serum level tests

What are the available treatments for Allan-Herndon-Dudley syndrome?

Currently, there are no established treatments for AHDS, though the effect of Triac, a natural non-classical thyroid hormone, is currently under investigation. Management of the condition consists of supportive measures, such as physical, occupational, and speech therapy.

Where can I find more information on Allan-Herndon-Dudley syndrome?

Allan-Herndon-Dudley Syndrome (AHDS) Articles