Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Partington syndrome


Other Names for this Disease
  • Intelectual disability-dystonic movements-ataxia-seizures syndrome
  • Intellectual disability, X-linked, syndromic 1
  • Intellectual disability, X-linked, with dystonic movements, ataxia, and seizures
  • MRXS1
  • Partington X-linked mental retardation 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.

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

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