Learn About Allan-Herndon-Dudley Syndrome

What is the definition of Allan-Herndon-Dudley Syndrome?

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.

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What are the causes of Allan-Herndon-Dudley Syndrome?

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).

How prevalent is Allan-Herndon-Dudley Syndrome?

Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide.

Is Allan-Herndon-Dudley Syndrome an inherited disorder?

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.

Who are the top Allan-Herndon-Dudley Syndrome Local Doctors?
Elite
Highly rated in
6
conditions

Erasmus MC

Department Of Internal Medicine, Academic Center For Thyroid Diseases 
Rotterdam, ZH, NL 

Stefan Groeneweg is in Rotterdam, Netherlands. Groeneweg is rated as an Elite expert by MediFind in the treatment of Allan-Herndon-Dudley Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Allan-Herndon-Dudley Syndrome, Hypotonia, Familial Hyperthyroidism due to Mutations in TSH Receptor, and Generalized Resistance to Thyroid Hormone.

Elite
Highly rated in
3
conditions

Rheinische Friedrich Wilhelms Universität Bonn

Bonn, NW, DE 

Doreen Braun is 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 3 other conditions, according to our data. Her top areas of expertise are Allan-Herndon-Dudley Syndrome, Hypotonia, Thyroid Hormone Plasma Membrane Transport Defect, and Muscle Atrophy.

 
 
 
 
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Distinguished
Highly rated in
11
conditions

Erasmus MC

Department Of Internal Medicine, Academic Center For Thyroid Diseases 
Rotterdam, ZH, NL 

Theo Visser is in Rotterdam, Netherlands. Visser is rated as a Distinguished expert by MediFind in the treatment of Allan-Herndon-Dudley Syndrome. They are also highly rated in 11 other conditions, according to our data. Their top areas of expertise are Allan-Herndon-Dudley Syndrome, Familial Hyperthyroidism due to Mutations in TSH Receptor, Generalized Resistance to Thyroid Hormone, and Hypothyroidism.

What are the latest Allan-Herndon-Dudley Syndrome Clinical Trials?
Tiratricol Treatment of Children With Monocarboxylate Transporter 8 Deficiency: Triac Trial II
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Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
Who are the sources who wrote this article ?

Published Date: April 01, 2013Published By: National Institutes of Health

What are the Latest Advances for Allan-Herndon-Dudley Syndrome?
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
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