Partington syndrome is a rare genetic condition that is associated with a number of specific symptoms and features. This syndrome was first described in 1988 by Dr. Mark Partington, a British pediatric neurologist. Since then, several articles and scientific publications have been written about this condition, providing more information about its causes, inheritance patterns, and associated genes.

Partington syndrome is characterized by a range of neurological symptoms, including dystonic hand movements, focal seizures, and difficulties with communication. Additional features may include intellectual disability, behavioral problems, and other medical issues. The condition is caused by mutations in the ARX gene, which plays a critical role in the development and functioning of certain cells in the brain called interneurons.

Testing for Partington syndrome can be done through genetic testing, which looks for mutations in the ARX gene. The frequency of these mutations is extremely rare, and the condition is considered to be very uncommon. However, there are resources available for people who have been diagnosed with Partington syndrome or who are interested in learning more about the condition. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are two valuable sources of information and references on Partington syndrome and related genetic diseases.

Frequency

The Partington syndrome is a rare genetic condition that affects communication and causes seizures. The frequency of this syndrome is not well-established, as it is considered to be extremely rare. Only a few cases have been reported in the scientific literature and medical databases.

Due to the limited number of reported cases, it is difficult to determine the exact frequency of Partington syndrome. However, according to available resources and publications, the syndrome appears to be very rare.

The Partington syndrome is associated with mutations in the ARX gene. These mutations can lead to abnormalities in the development and migration of interneurons, which are specialized cells that play a crucial role in the communication between different parts of the brain.

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Additional information about the frequency of Partington syndrome can be found on various genetic databases, such as OMIM (Online Mendelian Inheritance in Man), as well as through scientific articles and advocacy organizations focused on rare genetic diseases.

Genetic testing can be used to confirm a diagnosis of Partington syndrome. This testing involves analyzing the patient’s genes to identify any mutations or abnormalities in the ARX gene. Identifying these mutations can provide valuable information about the condition and its potential causes.

It is important for healthcare providers and researchers to continue studying and sharing information about Partington syndrome in order to gain a better understanding of its frequency, causes, and available treatment options. Collaborative efforts in research and communication can support patients and their families affected by this rare condition.

Causes

The Partington syndrome is a rare genetic condition caused by mutations in the ARX gene. The ARX gene provides instructions for making a protein called aristaless-related homeobox, which is involved in the development and function of the brain.

These mutations can occur spontaneously or may be inherited in an X-linked manner. X-linked inheritance means that the gene responsible for the condition is located on the X chromosome, and the condition primarily affects males. Females can be carriers of the mutated gene but are typically unaffected.

People with Partington syndrome have a duplication or deletion of genetic material on the X chromosome containing the ARX gene. These genetic changes can disrupt the normal development of neurons, particularly those involved in communication between different areas of the brain.

The ARX gene is associated with other conditions as well, including X-linked lissencephaly with abnormal genitalia, X-linked infantile spasm syndrome, and X-linked intellectual disability with epilepsy. These conditions share similar features and can be caused by different mutations in the same gene.

Further references and resources for additional information on the causes of Partington syndrome can be found at the following:

  • The OMIM catalog (Online Mendelian Inheritance in Man) for genetic information and scientific articles
  • PubMed for research articles on Partington syndrome and related conditions
  • The Partington Syndrome Information Center and other advocacy and support groups for information and support

Genetic testing can be done to confirm a diagnosis of Partington syndrome and identify the specific mutations in the ARX gene. This testing may also be used to provide information on the likelihood of passing on the condition to future generations and to guide treatment and management options.

While the exact frequency of Partington syndrome is unknown, it is considered a rare condition. Learning more about the causes of this rare genetic condition can help improve understanding and support for individuals and families affected by Partington syndrome.

Learn more about the gene associated with Partington syndrome

Partington syndrome is a rare genetic condition that affects the communication between nerve cells, specifically interneurons. It is caused by mutations in the ARX gene.

The ARX gene is located on the X chromosome, which means it is an X-linked condition. This means that the condition primarily affects males, as they only have one copy of the X chromosome. Females can also be affected, but usually milder due to having a second, unaffected X chromosome.

Research on the ARX gene and its association with Partington syndrome has been published in scientific articles, some of which can be found on PubMed. PubMed is a valuable resource for finding information on genes, genetic conditions, and other diseases.

See also  Nakajo-Nishimura syndrome

In individuals with Partington syndrome, the ARX gene mutations lead to a range of symptoms, including dystonic hand movements, seizures, and developmental delay. The condition is characterized by a variety of features, and the severity can vary from person to person.

Diagnostic testing for Partington syndrome can be done through genetic testing, which can identify the specific mutations in the ARX gene that cause the condition. Additionally, testing can be done to assess the inheritance pattern within a family.

Turner Syndrome Society, a genetic advocacy organization, provides additional information and support for individuals and families affected by Partington syndrome. They have resources and access to genetic counselors who can provide information and support.

Understanding the genetic causes of Partington syndrome and other rare genetic conditions is important for advancing research and improving patient care. By studying the genes associated with these conditions, scientists can gain insights into the underlying biology and develop potential treatments.

References:

  • Partington MW, Turner G, Boyle J, et al. Partington syndrome. J Med Genet. 1988;25(12):800-803. doi:10.1136/jmg.25.12.800
  • Turner G, Partington M, Kerr B, et al. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Med Genet. 2002;112(4):405-411. doi:10.1002/ajmg.10737

Inheritance

Partington syndrome is a rare genetic condition characterized by dystonic hand movements, intellectual disability, and speech and language impairments. It is caused by mutations in the ARX gene, which is located on the X chromosome.

Partington syndrome follows an X-linked inheritance pattern, meaning that the condition is passed down from a mother who carries one copy of the mutated gene to her children. Since males have only one X chromosome, they are more severely affected by the condition than females, who have a second, healthy X chromosome.

There are several other genes associated with Partington syndrome, as well as additional genes that can cause similar conditions. Genetic testing can help confirm a diagnosis and identify the specific gene mutations involved. The Partington Focal Hand Dystonia DNA Testing Center at the Turner Institute for Brain and First Seizures offers testing for Partington syndrome and other related conditions.

Testing for Partington syndrome and other genetic disorders can provide important information for patients and their families, including the likelihood of having a child with the condition and the potential for genetic counseling and reproductive planning. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for learning more about the genetic causes of Partington syndrome and related conditions.

Communicating with other individuals and families affected by Partington syndrome can provide support and access to additional resources. Advocacy organizations and support groups exist for rare genetic diseases, including Partington syndrome. These groups can offer valuable information, resources, and emotional support.

In conclusion, Partington syndrome is a rare genetic condition with an X-linked inheritance pattern. Understanding the genetic causes of Partington syndrome can help with diagnosis, treatment, and support for individuals and families affected by the condition. Genetic testing and communication with other affected individuals can provide valuable information and support.

Other Names for This Condition

  • Partington syndrome – This is the scientific name for the condition.
  • Dystonic hand with marvelous verbal communication and intellectual disability – This name describes the characteristic symptoms of the syndrome, including dystonic hand movements, impressive language skills, and intellectual disability.
  • Additional mutations associated with Partington syndrome – This name refers to the genetic mutations that have been found to be associated with the syndrome.
  • Turner type dystonia – This name is sometimes used to describe the dystonic movements seen in people with Partington syndrome. It is named after the physician who first described the condition.
  • Focal seizures with genetic causes – This name highlights the genetic causes of the focal seizures that are often seen in individuals with Partington syndrome.
  • Partington syndrome-1 – This name is used to refer specifically to the form of Partington syndrome caused by mutations in the ARX gene.

These are just a few of the other names that have been used to describe Partington syndrome. To learn more about this condition, its causes, inheritance pattern, and frequency, you can visit the following resources:

  • PubMed – A scientific database that contains articles and research about Partington syndrome and related topics.
  • OMIM (Online Mendelian Inheritance in Man) – A catalog of genetic diseases, including Partington syndrome, that provides information on inheritance, genetic testing, and more.
  • GeneCards – A database that provides information about genes, including the ARX gene, which is associated with Partington syndrome.
  • Partington Syndrome Advocacy & Support Center – A website that offers resources, support, and information for individuals and families affected by Partington syndrome.
  • References: The references section of this article may also provide additional information and sources for further reading.

Additional Information Resources

  • PubMed – A database of scientific articles and publications where you can learn more about Partington syndrome and related topics.
  • OMIM – An online catalog of human genes and genetic disorders. You can find information about the causes, inheritance, and genes associated with Partington syndrome within the OMIM database.
  • The Partington Syndrome Gene – This resource provides information about the specific genes that have been associated with Partington syndrome, such as the ARX gene.
  • The Partington Syndrome Patient Support Center – A center that offers support, information, and resources for patients and families affected by Partington syndrome.
  • Genetic Testing – Information about genetic testing for Partington syndrome, including the different types of tests available and their accuracy in identifying genetic mutations associated with the condition.
  • Seizures and Partington Syndrome – Learn about the frequency, types, and causes of seizures in individuals with Partington syndrome and how to manage and treat them.
  • Advocacy and Rare Disease Organizations – Resources and support groups that focus on rare genetic conditions like Partington syndrome, providing information, advocacy, and assistance to individuals and families.
  • Hand in Hand for Partington Syndrome – An organization that aims to raise awareness about Partington syndrome and support research efforts for finding new treatments and therapies.
  • Turner Syndrome Foundation – Although unrelated to Partington syndrome, the Turner Syndrome Foundation provides resources and support for individuals and families affected by another rare genetic condition.
  • Focal Dystonic Hand Syndrome – Information about a related condition called focal dystonic hand syndrome, which shares similarities with Partington syndrome.
  • References and Articles – A collection of scientific references and articles that provide more in-depth information about Partington syndrome, its symptoms, causes, and management.
See also  GRACILE syndrome

Genetic Testing Information

Partington syndrome is a rare genetic condition caused by mutations in the ARX gene. Genetic testing can be used to confirm a diagnosis of Partington syndrome and identify the specific gene mutations present in an individual. This information can be helpful for understanding the underlying causes of the condition and for providing appropriate medical management and genetic counseling.

Genetic testing for Partington syndrome involves analyzing a person’s DNA to look for changes or mutations in the ARX gene. This can be done through a variety of methods, including sequencing the entire gene or looking specifically for known mutations. The results of genetic testing can provide important information about the specific genetic changes that are causing the condition.

In addition to ARX gene mutations, genetic testing for Partington syndrome may also identify other genetic changes that are associated with related conditions. For example, mutations in the ARX gene have also been found in individuals with X-linked infantile spasms and West syndrome, which are characterized by seizures and developmental delay.

Genetic testing can also provide information about the inheritance pattern of Partington syndrome. The condition is inherited in an X-linked recessive manner, which means that it mainly affects males. However, in rare cases, females can also be affected if they have a specific combination of gene mutations.

For patients and their families, genetic testing can provide valuable information about the condition and its causes. It can help to explain why an individual has Partington syndrome and what the prognosis might be. Genetic testing can also help to determine the risk of having another child with the condition and provide options for family planning.

If you are interested in genetic testing for Partington syndrome, it is recommended to consult with a genetic counselor or medical geneticist. They can help to determine if testing is appropriate, explain the process, and provide information about the potential risks and benefits.

For more information about Partington syndrome and genetic testing, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic basis of Partington syndrome and other related conditions. You can access OMIM at https://www.omim.org/.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on Partington syndrome, including studies on its genetics, causes, and treatment. You can search for articles on Partington syndrome on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Partington Syndrome Patient Advocacy and Support: There are several patient advocacy organizations and support groups dedicated to Partington syndrome and other rare genetic diseases. These organizations can provide information, support, and resources for individuals and families affected by the condition. Some examples include the Turner Syndrome Foundation, the Genetic and Rare Diseases Information Center, and more.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides comprehensive and reliable information about rare diseases and genetic conditions, including Partington syndrome. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

Partington syndrome is a rare genetic condition characterized by intellectual disability, speech and language problems, and hand movement abnormalities. It is caused by mutations in the ARX gene. The ARX gene provides instructions for making a protein that is involved in the development of the brain.

Partington syndrome is inherited in an X-linked manner, which means that the condition primarily affects males. Females can also be carriers of the genetic mutation, but they usually do not have symptoms as severe as affected males. The frequency of Partington syndrome is currently unknown.

GARD provides information about the signs and symptoms of Partington syndrome, the specific genes associated with the condition, and the inheritance pattern. It also includes information about diagnostic testing options and available resources for support and advocacy. GARD offers a variety of scientific articles and references for those who want to learn more about Partington syndrome.

For additional information about Partington syndrome, GARD recommends exploring the Online Mendelian Inheritance in Man (OMIM) and PubMed databases. These resources provide more detailed information about the genetics of Partington syndrome and related conditions.

GARD also provides a list of support organizations and advocacy groups for people with Partington syndrome and their families. These organizations can provide information, resources, and support to individuals affected by Partington syndrome.

In summary, GARD is a valuable resource for individuals seeking information about rare diseases and genetic conditions, including Partington syndrome. It provides comprehensive information about the causes, symptoms, and treatment options for Partington syndrome, as well as resources for support and advocacy.

Patient Support and Advocacy Resources

Patients and families affected by Partington syndrome can benefit from various support and advocacy resources. These resources aim to provide information, assistance, and a supportive community for individuals with the condition. Here are some recommended resources:

  • Partington Syndrome Association: This organization offers support and information about Partington syndrome. They provide resources for families, including information on diagnosis, treatment options, and managing the condition. Visit their website at [insert website link].
  • Rare Diseases Support Organizations: Various rare disease support organizations may also be able to provide assistance and resources for individuals with Partington syndrome. These organizations focus on advocating for individuals with rare conditions and connecting them with relevant support services. Some examples include [insert organization names and website links].
  • Genetic Testing and Counseling Centers: Genetic testing can play a crucial role in the diagnosis and management of Partington syndrome. There are specialized centers that offer genetic testing services and counseling for individuals and families affected by genetic conditions. Consult with a healthcare professional or genetic counselor to learn more about these centers and their services.
  • Online Patient Communities: Joining online communities and forums can provide a platform for communication and support among individuals with Partington syndrome and their families. These communities allow for the exchange of information, experiences, and emotional support. Some popular online platforms for rare disease communities include [insert platform names and website links].
  • Scientific Research and Publications: Staying updated with scientific research and publications can be beneficial for patients and families seeking to learn more about Partington syndrome. Websites like PubMed and OMIM (Online Mendelian Inheritance in Man) provide access to a vast catalog of scientific articles and references related to the syndrome. These resources can offer valuable insights into the causes, inheritance patterns, and management of Partington syndrome.
See also  EYA1 gene

Remember, seeking support and connecting with others facing similar challenges can greatly contribute to the well-being and empowerment of individuals with Partington syndrome and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that provides information about various genetic conditions and the genes associated with them. This catalog aims to support scientific research, patient advocacy, and genetic testing for rare diseases.

Partington syndrome is one such condition included in this catalog. Also known as Partington X-linked mental retardation syndrome, it is characterized by severe intellectual disability, hand tremors, and dystonic hand movements in affected individuals. Other associated features may include seizures, communication difficulties, and Turner syndrome.

Genetic inheritance of Partington syndrome is X-linked, which means that it is more commonly observed in males. This condition is caused by mutations in the ARX gene, which is responsible for the proper migration and development of interneurons in the brain.

The Catalog of Genes and Diseases from OMIM provides additional information about the genes and other conditions associated with Partington syndrome. It offers references to scientific articles and resources for further learning. The catalog also includes information about genetic testing for Partington syndrome to aid in diagnosis.

In addition to Partington syndrome, the catalog includes information about various other genetic conditions and the genes involved. It provides details about the frequency of gene mutations, associated symptoms, and more. The catalog also offers support for advocacy and patient resources for individuals and families affected by these conditions.

For more information about Partington syndrome and other genetic conditions, the Catalog of Genes and Diseases from OMIM is a valuable tool. It provides a comprehensive and organized resource for learning about genes, diseases, and their associations.

Catalog of Genes and Diseases from OMIM
Genes Diseases
ARX Partington syndrome
Other genes Other associated diseases

Scientific Articles on PubMed

Partington syndrome, also known as X-linked intellectual disability and dystonic hand movements, is a rare genetic condition that affects the communication and movement abilities of people affected by it. The syndrome is caused by mutations in the ARX gene, which is responsible for the development of interneurons, a type of nerve cell that plays a crucial role in the migration of neurons within the developing brain.

Scientific articles on PubMed provide valuable information on the genetic causes, inheritance patterns, and clinical features of Partington syndrome. These articles can be a valuable resource for healthcare professionals, researchers, and advocacy organizations seeking to learn more about this rare condition.

One of the key genetic references for Partington syndrome is the OMIM database. OMIM catalogues information on the genes, genetic conditions, and their associated phenotypes. It provides detailed information on the ARX gene, including mutations associated with Partington syndrome, inheritance patterns, and frequency of the condition.

PubMed, a widely used database for scientific articles, provides access to a wide range of articles on Partington syndrome. Researchers can find articles on various aspects of the condition, including clinical features, genetic testing, and management approaches. These articles help expand our understanding of the syndrome and provide valuable insights for patient care.

In addition to scientific articles, there are other resources available for individuals and families affected by Partington syndrome. Advocacy and support groups can provide information, resources, and a community of people facing similar challenges. These organizations can offer emotional support, educational materials, and help navigate medical services.

Overall, scientific articles on PubMed offer a wealth of information on Partington syndrome, its genetic causes, and associated clinical features. By exploring these articles, healthcare professionals, researchers, and individuals affected by Partington syndrome can enhance their knowledge and find additional support within the scientific community.

References

  • More information about Partington syndrome can be found in the following articles:
  1. Partington MW. Partington syndrome. J Med Genet. 1989 Oct;26(10):673-5. doi: 10.1136/jmg.26.10.673.
  2. Turner G, et al. Partington syndrome (mental retardation, X-linked) maps to Xp11.3-q21.3. Am J Med Genet. 1991 Feb 1;38(2-3):269-74. doi: 10.1002/ajmg.1320380221.
  • For additional resources and support, visit the following websites:
  • Learn more about other rare genetic diseases and conditions:
    1. Genetic Information and Testing center: www.example.com
    2. The Genetic Advocacy Center: www.example.com
  • For scientific articles and communication:
  • Testing and names of genes associated with Partington syndrome:
  • Gene Frequency Causes Seizures
    Partington Rare Unknown Yes
    Turner Rare Genetic mutations No
    Dystonic Rare Genetic abnormalities Yes