Partington syndrome

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Disease Overview

Partington syndrome is 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.[9199][9200]


Synonyms

  • Partington X-linked mental retardation syndrome
  • PRTS
  • Intellectual disability, X-linked, syndromic 1
  • MRXS1
  • Intelectual disability-dystonic movements-ataxia-seizures syndrome
  • Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures

For more information, visit GARD.

National Organization for Rare Disorders