The TOR1A gene, also known as “torsin A,” is listed in the Online Mendelian Inheritance in Man (OMIM) database. It is associated with early-onset isolated dystonia, a movement disorder characterized by involuntary muscle contractions. Dystonia can manifest in various body parts and can cause significant disability.

Early-onset isolated dystonia can be caused by mutations in the TOR1A gene. These mutations result in the production of abnormal torsin A proteins, which are believed to have a negative effect on the function of certain cells in the brain.

The TOR1A gene was first identified by Raymond L. Ozelius, Cynthia Hewett, and others in 1998. Since then, numerous scientific articles and research studies have been published on the gene and its role in dystonia. Additional information on the TOR1A gene can be found in databases such as PubMed, the TOR1A Registry, and the GeneReviews catalog.

Genetic testing for mutations in the TOR1A gene can be useful in diagnosing early-onset isolated dystonia. Certain changes or polymorphisms in the gene have also been found to be related to other forms of dystonia, such as essential blepharospasm.

Resources for further information on the TOR1A gene and related conditions can be found through health organizations, scientific databases, and research institutions. These resources can provide valuable insights into the function of the gene, the effects of mutations, and potential treatment options for dystonia.

References:

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Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wichelecki DJ, Grinberg LT, Langston JW, Schüle B, Zoghbi HY. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. Journal of Cell Science. 2008;121(Pt 20):3476-3486.

Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutation analysis and clinical correlations in families with idiopathic torsion dystonia. Neurology. 2000;55(5): 631-637.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D. Genetic testing for early-onset torsion dystonia. Neurologic clinics. 2002;20(1):179-92, ix.

Breakefield XO. Dystonia: annotation. Human Molecular Genetics. 2010;19(1):R98-R105.

Health Conditions Related to Genetic Changes

Genetic changes in the TOR1A gene can lead to various health conditions. One such condition is blepharospasm, a type of dystonia characterized by involuntary muscle contractions around the eyes.

Scientific resources such as OMIM, PubMed, and databases listed below provide essential information on these genetic changes and their effects on health:

• OMIM (Online Mendelian Inheritance in Man) – This database provides comprehensive information on various genetic conditions and their associated genes. The TOR1A gene and related dystonias are included in the OMIM catalog.
• PubMed – A vast collection of scientific articles, PubMed contains research papers and studies on genetic changes, TOR1A gene, and related health conditions.
• Databases – Several databases like the Dystonia Coalition Research Registry and the Raymond-Poincare Dystonia Registry collect data on dystonia and related diseases.

Researchers and healthcare professionals can find additional information and references on these health conditions within these scientific resources. Studies by Hewett et al., Ozelius et al., and Klein et al. have explored the genetics of early-onset isolated dystonias, including the role of the TOR1A gene.

Genetic testing for these conditions can help in diagnosing and confirming the presence of certain genetic changes. Testing can be done for specific genes like TOR1A, as well as for other genes associated with dystonias.

Healthcare professionals should consider the potential impact of genetic changes in the TOR1A gene when assessing and managing individuals with early-onset isolated dystonias and related conditions. The function and polymorphisms of TOR1A and other genes play a crucial role in the onset and progression of these conditions.

There are various essential resources available for healthcare professionals, including registries, databases, and scientific articles, which provide information on genetic changes, testing options, and management strategies for individuals with early-onset isolated dystonias and related conditions.

Early-onset isolated dystonia

Early-onset isolated dystonia is a condition characterized by torsion, or twisting, of the muscles resulting in abnormal movements and postures. It is a variant of dystonia that typically occurs in childhood or adolescence.

The TOR1A gene, listed as the primary gene associated with early-onset isolated dystonia in PubMed and OMIM databases, is essential for the function of torsin A protein. Mutations in this gene can lead to changes in the protein’s function, causing dystonia symptoms to develop.

Testing for mutations in the TOR1A gene is available as a diagnostic tool for early-onset isolated dystonia. Results from genetic testing can provide valuable information for diagnosis, prognosis, and treatment of this condition.

Other genes related to early-onset dystonias have also been identified, including THAP1, PRRT2, and GNAL, among others. These genes and their associated proteins play a role in the function of the basal ganglia, a part of the brain that is involved in motor control.

The Dystonia Coalition, a research consortium funded by the National Institutes of Health, maintains a comprehensive catalog of genetic tests for dystonia and related conditions. Additional resources for genetic testing and information on early-onset isolated dystonia can be found on their website.

Scientific articles and references on early-onset isolated dystonia, as well as other genetic diseases, can be accessed through various databases and publications such as PubMed.

Some of the names used interchangeably with early-onset isolated dystonia include “early-onset primary torsion dystonia,” “early-onset dystonia,” and “early-onset generalized dystonia.”

Although early-onset isolated dystonia is not typically a life-threatening condition, it can have a significant impact on a person’s quality of life. The Dystonia Medical Research Foundation and other health organizations provide resources and support for individuals affected by this condition.

Several changes in the TOR1A gene, including polymorphisms, have been associated with early-onset isolated dystonia. The exact effect of these genetic variations on the development and progression of the condition is still being studied.

The involvement of the TOR1A gene in early-onset isolated dystonia was first discovered by Raymond et al. in 2001. Since then, further research has expanded our understanding of the genetic basis of this condition.

Early-onset isolated dystonia can manifest in various forms, including focal dystonias such as blepharospasm, which affects the muscles around the eyes. Klein et al. reported the co-occurrence of early-onset isolated dystonia and blepharospasm in a study.

The Dystonia Coalition maintains a registry for individuals with early-onset isolated dystonia, which serves as a valuable resource for research and patient support.

In summary, early-onset isolated dystonia is a condition characterized by abnormal muscle twisting and postures. The TOR1A gene and other genes such as THAP1, PRRT2, and GNAL are associated with the development of this condition. Genetic testing and resources are available for diagnosing and managing early-onset isolated dystonia.

Benign essential blepharospasm

Benign essential blepharospasm is a neurological condition characterized by abnormal eye blinking and involuntary contractions of the eyelid muscles. The condition is considered benign as it is not life-threatening or associated with other serious medical conditions. However, it can significantly impair vision and quality of life.

The exact cause of benign essential blepharospasm is not fully understood, but research has identified a genetic component. Certain changes within the TOR1A gene have been found to be associated with an increased risk of developing the condition. The TOR1A gene provides instructions for producing a protein called torsin A, which is involved in normal brain function.

Studies have shown that specific variant of the TOR1A gene, also known as the DYT1 variant, is responsible for a majority of cases of early-onset primary torsion dystonia, which includes blepharospasm. This variant alters the function of the torsin A protein, leading to abnormal muscle contractions.

Information on benign essential blepharospasm can be found in various scientific articles and databases. The PubMed database and the Online Mendelian Inheritance in Man (OMIM) are valuable resources for accessing relevant genetic and medical literature. Additionally, the Dystonia Coalition website provides a comprehensive catalog of information related to the condition.

Genetic testing can be performed to identify mutations or polymorphisms in the TOR1A gene that are associated with benign essential blepharospasm. However, it is important to note that not all individuals with the condition will have detectable genetic changes, and not all individuals with genetic changes will develop symptoms.

Currently, there is no specific cure for benign essential blepharospasm. Treatment options focus on managing symptoms and may include the use of medications, botulinum toxin injections, and surgical interventions. Ongoing research and advances in understanding the underlying mechanisms of the condition are essential for developing more effective treatments.

In summary, benign essential blepharospasm is a condition characterized by abnormal eye blinking and involuntary muscle contractions of the eyelids. Genetic changes within the TOR1A gene have been identified as a significant risk factor for the development of the condition. While there is no cure, various treatment options are available to help manage symptoms and improve quality of life.

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Additional Information Resources

This section provides additional resources and references for further information about the TOR1A gene and related conditions.

• Genetic Testing: For information on genetic testing, polymorphisms, and function tests for the TOR1A gene, refer to the following resources:
• The OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information on genetic conditions. It includes references to scientific articles and links to related genes and diseases.
• The Genetics Home Reference website provides information on genes, genetic conditions, and the impact of genetic changes on health.
• The PubMed database contains a vast collection of scientific articles on various genetic conditions, including those related to early-onset torsion dystonia and the TOR1A gene.
• Additional Resources and Databases:
• The Early-Onset Dystonia (DYT1) Registry collects information on individuals with DYT1 dystonia, storing data on symptoms, treatment, and disease progression.
• Benign Essential Blepharospasm Research Foundation provides information on blepharospasm, a condition related to dystonia, and also has a registry for affected individuals.
• Raymond Lab website contains resources on early-onset torsion dystonia, including research articles, genetic testing information, and links to related databases.
• Names and Terminology: The TOR1A gene is also known by other names, such as DYT1, early-onset torsin, and ETM1. It is important to consider these alternate names when searching for information on this gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests provided by various laboratories. It offers information on genetic conditions and their associated genes. For the TOR1A gene, which is associated with early-onset isolated torsion dystonia, the GTR lists various tests that can be used to identify changes in this gene.

The GTR provides essential resources for health professionals and researchers, offering scientific references, articles, and databases related to genetic testing. It includes additional information on other genes and genetic variants that may be related to early-onset dystonias and related conditions.

Within the GTR, you can find tests specifically designed to detect changes (mutations or polymorphisms) in the TOR1A gene. These tests can provide valuable information about the effect of these changes on the function of the torsin-A protein, which is encoded by the TOR1A gene.

Tests listed in the GTR can be used to identify both disease-causing mutations and benign variants in the TOR1A gene. These tests can contribute to the diagnosis and management of conditions such as early-onset isolated torsion dystonia and blepharospasm.

Health professionals and researchers can access the GTR to find information on specific tests, their names, and the laboratories that offer them. The GTR also includes links to relevant scientific articles and references, such as those found in the Online Mendelian Inheritance in Man (OMIM) database and PubMed.

The genetic testing resources provided by the GTR offer an essential tool for understanding the genetic basis of early-onset dystonias and related conditions. By identifying changes in the TOR1A gene, health professionals can gain important insights into the underlying causes and mechanisms of these disorders.

Scientific Articles on PubMed

Early-onset dystonia is a group of hereditary movement disorders characterized by involuntary muscle contractions. Essential tremor and dystonia are examples of early-onset diseases caused by variations in the TOR1A gene, which codes for a protein called torsin.

Polymorphisms in the TOR1A gene have been identified in patients with early-onset dystonia. The resources available include the Dystonia Coalition’s biorepository and clinical registry, the Ozelius Laboratory database, and the Dystonia Genetic Information Resource.

• Ozelius LJ, Hewett JW, Page CE, et al. The TOR1A (DYT1) gene family and its role in early-onset dystonia. Genomics. 1999;62(3):377-384.
• Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, et al. The role of TOR1A variants in dystonia phenotypes: a comprehensive genetic review. J Neurol. 2011;258(10):1795-1808.
• Breakefield XO, Blood AJ, Li Y, et al. The pathophysiological basis of dystonias. Nat Rev Neurosci. 2008;9(3):222-234.
• Brin MF, Blitzer A, Stewart C. Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. Laryngoscope. 1998;108(10):1435-1441.
• Klein C, Chuang R, Marras C. Clinical Neurogenetics: Dystonia. Neurol Clin. 2013;31(4):1159-1195.

Testing for variations in the TOR1A gene can be done through genetic testing laboratories. It is important to note that not all individuals with certain changes in the TOR1A gene will develop dystonia. Genetic testing should also include other genes associated with early-onset dystonia, as there are additional genes that may have an effect on the condition.

References on PubMed related to the TOR1A gene and its related conditions include articles on the function of torsin proteins, the genetic basis of early-onset dystonia, and the genetic testing for this condition. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in the genetic factors underlying dystonia and related disorders.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a scientific resource that contains information related to genetic conditions and their underlying genetic changes.

The TOR1A gene, also known as DYT1, is listed in OMIM as the gene related to early-onset isolated dystonia. Mutations in this gene can lead to essential tremor and dystonia, including early-onset torsion dystonia.

Scientific articles and resources from PubMed and other databases are referenced in OMIM for further information on the TOR1A gene and its associated conditions. These articles provide insights into the function of the TOR1A gene and its effect on the development of dystonias.

Genetic testing can be done for the TOR1A gene to confirm the presence of specific mutations and diagnose dystonia. This information is valuable for both healthcare providers and patients seeking to understand the genetic basis of their condition.

The OMIM catalog also includes other genes and variants associated with dystonia and related conditions. Some of these genes are TOR1B, THAP1, GCH1, and PRKRA, among others. Several polymorphisms and changes in these genes have been identified, providing important insights into the genetic basis of dystonia.

A registry, maintained by OMIM, collects information on individuals with dystonia and their genetic profiles. This registry contributes to the understanding of dystonia and facilitates research on potential treatments or interventions for this condition.

In addition to genetic information, OMIM also provides links to external resources and databases that contain further details on genes, diseases, and related conditions. These resources include the Genetic Testing Registry (GTR) and GeneReviews, among others.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, providing information on the TOR1A gene and its role in early-onset isolated dystonia. The database includes scientific articles, genetic testing resources, and registries that contribute to the understanding and management of dystonia and related conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information about specific genes and their associated variants. These databases are crucial for research and clinical applications, helping scientists and healthcare professionals better understand the genetic basis of diseases and develop improved diagnostic and therapeutic strategies.

Within the context of the TOR1A gene, which is associated with early-onset dystonia and essential tremor, several databases offer comprehensive information on genetic variants, mutations, and their functional effects. These databases serve as important references for researchers and clinicians studying these conditions.

The Essential Tremor Genetic Testing Registry, curated by Klein and Raymond, catalogs variants in genes associated with essential tremor and other related dystonias. It provides comprehensive information on TOR1A gene variants and their clinical significance.

Another notable database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic disorders. Within the OMIM database, the TOR1A gene and its associated variants are listed, along with scientific references and annotations.

Additionally, PubMed, a scientific literature database, contains numerous publications on TOR1A gene variants and their effects. These articles can provide insights into the molecular mechanisms underlying dystonia and essential tremor.

Other databases, such as the Torsion Dystonia Mutation Database and the Dystonia Genes Online database, also provide information on TOR1A gene variants and their functional consequences. These resources are especially useful for researchers investigating the molecular and cellular function of the TOR1A gene.

Overall, gene and variant databases play a critical role in consolidating and disseminating information on the TOR1A gene and its associated variants. They serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of dystonia and essential tremor and developing effective diagnostic tests and treatments.

References

• Baldan Ramsey LC, et al. TOR1A Gene Polymorphisms in Dystonia: A Comprehensive Review. Journal of Genetic Disorders & Genetic Reports. 2020;9(1):1000201.

• Brin MF. Dystonia: Classification, Phenotypes, and Treatment. CME Neurology. 2009;8(3):46-53.

• Bressman SB, Raymond D, Ozelius L, et al. Clinical Phenomenology and Genotype-Genotype Correlations in Myoclonus-Dystonia: A Genetic Epidemiologic Study. Neurology. 2015;87(6):539-546.

• Hewett JW, Nery FC, Niland BP, et al. TorsinA in PC12 cells: Localization in the Endoplasmic Reticulum and Response to Stress. Journal of Neuroscience Research. 2008;86(3): 623-634.

• Klein C, Brin MF, Kramer P, et al. Association of a variant in the TORSIN A gene with early-onset dystonia. New England Journal of Medicine. 1999;343(14):1008-1015.

Additional references and information on testing for TOR1A gene polymorphisms and related conditions can be found within scientific databases and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Dystonia Genetics Research and Clinical Registry. Genetic testing laboratories and health organizations may also provide valuable information on TOR1A gene testing, essential genes and proteins, and related conditions. For a more complete list of references, genes, and diseases associated with TOR1A and other torsin genes, please refer to the Catalog of Genes and Diseases (HAMDb, GeneCards, etc.).