Definition:
Allan-Herndon-Dudley syndrome is a rare genetic defect in which the brain succumbs to mental retardation and problems with movement control. This is an X-linked syndrome and occurs only to males.
Diagnosis:
Genetic testing and observation of the symptoms are performed to diagnose the disorder.
Treatment:
There is no specific treatment for the disorder.
Symptoms and Signs:
Affected patients show poor muscle tone, underdeveloped muscles and eventual joint deformities as they grow older. Muscle weakness and stiffness also occur, causing the limbs to become immobile.
Causes:
The disease is caused by a defect in the SLC16A2 gene.
