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Diseases

Genetic and Rare Diseases Information Center (GARD)

Partington syndrome


Other Names for this Disease
  • Partington X-linked mental retardation syndrome
  • PRTS
  • Intellectual disability, X-linked, syndromic 1
  • MRXS1
  • Intelectual disability-dystonic movements-ataxia-seizures syndrome
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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.[1][2]
Last updated: 6/30/2015

References

  1. Partington syndrome. Genetics Home Reference. May 2013; http://ghr.nlm.nih.gov/condition/partington-syndrome.
  2. Frints SG, Borghgraef M, Froyen G, Marynen P, Fryns JP. Clinical study and haplotype analysis in two brothers with Partington syndrome. Am J Med Genet. November 2002; 112(4):361-368.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Partington syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Partington X-linked mental retardation syndrome
  • PRTS
  • Intellectual disability, X-linked, syndromic 1
  • MRXS1
  • Intelectual disability-dystonic movements-ataxia-seizures syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.