Partington syndrome

Rare Disease

MONDO:0010654

Also Known As

Partington syndromePartington syndrome, X-linked recessivePartington-Mulley syndromeX-linked Russell-Silver syndromeX-linked intellectual disability-dystonia-dysarthria syndromeMRXS1PRTSPartington X-linked intellectual disability syndromePartington X-linked mental retardation syndromeintellectual disability, X-linked 36intellectual disability, X-linked, syndromic 1intellectual disability, X-linked, with dystonic movements, ataxia, and seizuresintellectual disability-dystonic movements-ataxia-seizures syndromemental retardation, X-linked 36mental retardation, X-linked, syndromic 1mental retardation, X-linked, with dystonic movements, ataxia, and seizures

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.