National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Partington syndrome


Other Names:
Partington X-linked mental retardation syndrome; PRTS; Intellectual disability, X-linked, syndromic 1; 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 See More
Categories:
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
The signs and symptoms of Partington syndrome vary but may include:[1][2]
  • Mild to moderate intellectual disability
  • Behavioral issues
  • Dystonia, especially affecting the movement of the hands
  • Dysarthria
  • Abnormal gait (style of walking)
  • Recurrent seizures

Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.[1]
Last updated: 6/30/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Limb dystonia 0002451
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ] 		0000325
30%-79% of people have these symptoms
Dysarthria
Difficulty articulating speech
0001260
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Intellectual disability, moderate
IQ between 34 and 49
0002342
Lower limb spasticity 0002061
Macroorchidism
Large testis
0000053
5%-29% of people have these symptoms
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
EEG abnormality 0002353
Facial telangiectasia 0007380
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Flexion contracture
Flexed joint that cannot be straightened
0001371
Focal dystonia 0004373
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neurons). Specific changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration. This can lead to the many signs and symptoms associated with Partington syndrome.[1]
Last updated: 6/30/2015
Partington syndrome is inherited in an X-linked recessive manner.[1] A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome.

In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
Last updated: 6/30/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy.[3] Speech therapy may be recommended for children with dysarthria. Medications may be prescribed to help prevent and/or control recurrent seizures. Children with mild to moderate intellectual disability may benefit from special education services.

For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.
Last updated: 6/30/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  3. NINDS Dystonias Information Page. National Institute of Neurological Disorders and Stroke. February 2015; http://www.ninds.nih.gov/disorders/dystonias/dystonias.htm#Is_there_any_treatment.