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
- Partington X-linked mental retardation syndrome
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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.Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and
Last updated: 6/30/2015
- Partington syndrome. Genetics Home Reference. May 2013; http://ghr.nlm.nih.gov/condition/partington-syndrome.
- 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.
- Genetics Home Reference (GHR) contains information on Partington syndrome. This website is maintained by the National Library of Medicine.
- 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.