What is Allan-Herndon-Dudley Syndrome

Allan-Herndon-Dudley Syndrome (AHDS) is a rare genetic disorder that primarily affects the development and function of the brain. It is an X-linked recessive disorder, meaning it predominantly affects males. AHDS is caused by mutations in the SLC16A2 gene, which is responsible for producing a protein called monocarboxylate transporter 8 (MCT8).

MCT8 plays a crucial role in transporting thyroid hormones into brain cells, where they are essential for normal brain development and function. In individuals with AHDS, the mutated gene leads to a deficiency or dysfunction of MCT8, resulting in impaired thyroid hormone transport.

The symptoms of AHDS can vary but often include intellectual disability, delayed development, muscle weakness, and abnormal muscle tone. Affected individuals may also experience problems with speech, coordination, and mobility. As AHDS is a lifelong condition, supportive care and management of symptoms are the primary approaches to treatment.

Due to its rarity and complexity, AHDS requires specialized medical attention and ongoing support for affected individuals and their families.