Allan Herndon Dudley Syndrome

Definition

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.

Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.

Symptoms

Symptoms of Allan Herndon Dudley Syndrome
Gene mutations alter the structure and function of the SLC16A2 protein. As a result, this protein is unable to transport T3 into nerve cells effectively. A lack of this critical hormone in certain parts of the brain disrupts normal brain development, resulting in mental retardation and problems with movement. Because T3 is not taken up by nerve cells, excess amounts of this hormone continue to circulate in the bloodstream. Increased T3 levels in the blood may be toxic to some organs and contribute to the signs and symptoms of Allan-Herndon-Dudley syndrome.

Causes

Causes of Allan Herndon Dudley Syndrome
Allan–Herndon–Dudley syndrome is a rare disorder of brain development that causes moderate to severe mental retardation and problems with movement. This condition, which occurs almost exclusively in males, disrupts development from before birth.

Diagnosis

Diagnosis of Allan Herndon Dudley Syndrome
Genetic testing and observation of the symptoms are performed to diagnose the disorder.

Treatment

Treatment of Allan Herndon Dudley Syndrome
There is no specific treatment for the disorder.

Prognosis

Prognosis of Allan Herndon Dudley Syndrome
Consult with your doctor.

Prevention

Prevention of Allan Herndon Dudley Syndrome
Consult with your doctor.