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?
