Partington syndrome

Title

Other Names:

PRTS; Intellectual disability, X-linked, syndromic 1; MRXS1; 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:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary

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

Symptoms Symptoms

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.

Showing of 19 |

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
1%-4% of people have these symptoms
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Camptodactyly	Permanent flexion of the finger or toe	0012385
Focal dystonia		0004373
Infantile spasms		0012469
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Percent of people who have these symptoms is not available through HPO
Flexion contracture	Flexed joint that cannot be straightened	0001371
X-linked recessive inheritance		0001419

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Last updated: 2/1/2021

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Cause Cause

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

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Treatment Treatment

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Organizations Organizations

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 Providing General Support

The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC, DC 20006
Toll-free: 1-(800) 433-5255
Telephone: +1-202-534-3700
Fax: +1-202-534-3731
E-mail: info@thearc.org
Website: https://www.thearc.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

Genetics Home Reference (GHR) contains information on Partington syndrome. This website is maintained by the National Library of Medicine.

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.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

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.
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.

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