Families

SLC16A2-related disorder, also known as MCT8 deficiency or Allan-Herndon-Dudley syndrome (AHDS), is an X-linked recessive condition, usually only males present a clinically evident phenotype. It is characterized by neurodevelopmental delay, axial hypotonia, limbs spasticity, movement disorders (dystonia, hypokinesia, paroxysmal movement disorders), epileptic seizures, signs of peripheral thyrotoxicosis. A prevalence of 1/70.000 boys has been calculated