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Partington syndrome

rare

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.

Causal genes
ARX
Also known as
intellectual disability, X-linked, syndromic 1 · intellectual disability, X-linked, with dystonic movements, ataxia, and seizures · intellectual disability-dystonic movements-ataxia-seizures syndrome · mental retardation, X-linked 36 · mental retardation, X-linked, syndromic 1

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