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