Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.
Mutations in the SLC16A2 gene cause Allan-Herndon-Dudley syndrome. The SLC16A2 gene, also known as MCT8, provides instructions for making a protein that plays a critical role in the development of the nervous system. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, called triiodothyronine or T3, is produced by a butterfly-shaped gland in the lower neck called the thyroid. T3 appears to be critical for the normal formation and growth of nerve cells, as well as the development of junctions between nerve cells (synapses) where cell-to-cell communication occurs. T3 and other forms of thyroid hormone also help regulate the development of other organs and control the rate of chemical reactions in the body (metabolism).
Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide.
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Doreen Braun practices in Bonn, Germany. Braun is rated as an Elite expert by MediFind in the treatment of Allan-Herndon-Dudley Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Allan-Herndon-Dudley Syndrome, Hypotonia, Muscle Atrophy, and Thyroid Hormone Plasma Membrane Transport Defect.
Ulrich Schweizer practices in Berlin, Germany. Schweizer is rated as an Elite expert by MediFind in the treatment of Allan-Herndon-Dudley Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Allan-Herndon-Dudley Syndrome, Thyroid Hormone Plasma Membrane Transport Defect, Hypotonia, and Familial Glucocorticoid Deficiency.
Heike Heuer practices in Jena, Germany. Heuer is rated as an Elite expert by MediFind in the treatment of Allan-Herndon-Dudley Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Allan-Herndon-Dudley Syndrome, Hypothyroidism, Hypotonia, and Muscle Atrophy.
Summary: This is a double-blind, randomized phase 3 multicenter placebo-controlled study in at least 16 evaluable male participants diagnosed with MCT8 deficiency. Male participants, from 4 years of age (at randomization) and having demonstrated stable maintenance treatment with tiratricol, will be randomized to receive placebo or tiratricol for 30 days or until reaching rescue criterion (serum total triio...
Summary: This study will investigate the effect of treatment with tiratricol (also called Triac) in young boys (≤30 months) with MCT8 deficiency (also called the Allan-Herndon-Dudley syndrome (AHDS)). The hypothesis tested is that treatment with tiratricol will have a beneficial effect on the hypothyroid state in the brain as well as the hyperthyroid state in peripheral organs and tissues in these patients...
Published Date: April 01, 2013Published By: National Institutes of Health