Table of Contents

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

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

© Copyright Patient Worthy

Close Menu