Partington syndrome
Partington syndrome
Definition
A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Also known as Partington syndrome, Partington syndrome, X-linked recessive, Partington-Mulley syndrome, X-linked intellectual disability-dystonia-dysarthria syndrome — per MONDO