The SGCE gene, also known as the epsilon sarcoglycan gene, is a gene that plays a role in various health conditions. It is one of the genes listed in databases and references for genetic testing and research on neurological disorders. Mutations or changes in this gene have been found to be related to a range of conditions, including myoclonus-dystonia syndrome.

The SGCE gene is primarily expressed in neurons and is involved in the proper functioning of these cells. It has been extensively studied in the context of myoclonus-dystonia syndrome, a movement disorder characterized by myoclonus and dystonia. This gene is just one of many genes that have been identified as being involved in the development and progression of these diseases.

In addition to its role in myoclonus-dystonia syndrome, changes in the SGCE gene have also been implicated in other neurological and genetic conditions. Researchers have published numerous articles on the topic, and the information can be found in various scientific databases such as PubMed and OMIM.

Genetic testing for variants in the SGCE gene can be useful for diagnosing or confirming the presence of myoclonus-dystonia syndrome and other related conditions. Additionally, resources such as the SGCE Gene Testing Registry provide further information and support for individuals and families affected by these diseases.

Health Conditions Related to Genetic Changes

Genes play a crucial role in determining an individual’s health. Genetic changes can lead to various health conditions, including those affecting neurons. One such gene associated with health conditions is the SGCE gene. Here, we will discuss health conditions related to genetic changes, particularly those involving the SGCE gene.

The SGCE gene, also known as the epsilon-sarcoglycan gene, is responsible for encoding a protein involved in the proper functioning of neurons. Changes in this gene can lead to several health conditions, with the most prominent one being myoclonus-dystonia syndrome.

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Myoclonus-dystonia syndrome is a movement disorder characterized by involuntary muscle jerks (myoclonus) and dystonia, which refers to sustained or repetitive muscle contractions. This condition can range in severity and may cause significant impairment in daily activities.

Scientific databases, such as OMIM and PubMed, provide valuable information on the SGCE gene and its role in various health conditions. The OMIM database lists numerous articles and references related to myoclonus-dystonia and the SGCE gene. Additionally, PubMed offers a vast collection of scientific articles that focus on the genetic changes and health conditions associated with the SGCE gene.

For individuals seeking more information or undergoing genetic testing for myoclonus-dystonia and other related diseases, the SGCE gene plays a crucial role. The genetic testing can help identify specific changes or mutations in the SGCE gene, aiding in the diagnosis and management of these conditions. Moreover, additional resources, such as disease registries, can also provide important support and information for individuals affected by myoclonus-dystonia syndrome.

In conclusion, genes and genetic changes have a significant impact on an individual’s health. The SGCE gene is associated with various health conditions, particularly myoclonus-dystonia syndrome. Scientific databases, such as OMIM and PubMed, offer valuable information and resources for understanding the role of the SGCE gene in these conditions. Genetic testing and disease registries further contribute to the diagnosis and management of myoclonus-dystonia and related diseases.

Myoclonus-dystonia

Myoclonus-dystonia is a genetic syndrome characterized by myoclonic jerks (sudden, brief muscle contractions) and dystonia (involuntary muscle contractions). These symptoms usually start in childhood or adolescence and may progress over time.

The SGCE gene (short for sarcoglycan epsilon) is associated with myoclonus-dystonia. Variants in this gene can cause disruptions in the function of neurons, leading to the symptoms of the syndrome.

For more information on myoclonus-dystonia, you can refer to scientific articles on pubmed. The pubmed database contains a variety of articles that discuss the syndrome, its related conditions, and the genetic changes associated with it.

In addition to pubmed, there are other genetic resources listed on the Registry of Genes and Genetic Testing Catalog (OMIM) that provide information on myoclonus-dystonia. These resources can help researchers and healthcare professionals better understand the syndrome and develop diagnostic tests for it.

Some of the related conditions to myoclonus-dystonia include other myoclonus syndromes and dystonia. These conditions may share similar symptoms and genetic causes.

To stay updated on the latest research and developments in myoclonus-dystonia, it is recommended to regularly check pubmed for new articles and references. These resources provide valuable insights into the syndrome and its management.

In conclusion, myoclonus-dystonia is a genetic syndrome characterized by myoclonic jerks and dystonia. The SGCE gene is associated with the syndrome, and there are several genetic resources, such as pubmed and OMIM, that provide information on the condition and related genes and diseases.

Other Names for This Gene

SGCE gene is also known by other names in scientific literature and databases. Some of the other names include:

• Myoclonus-dystonia epsilon-sarcoglycan (DYT11)
• Epsilon-sarcoglycan variant
• Myoclonus dystonia syndrome
• SGCE gene
• EPSILON-SG

These alternative names are used to refer to the same gene in different contexts, related diseases, and testing resources. The gene is primarily associated with myoclonus-dystonia syndrome and related myoclonus and dystonia disorders. The SGCE gene is listed in genetic databases such as OMIM and PubMed, where scientific articles and references provide additional information on the gene and related diseases.

Additional Information Resources

Here are some additional resources for further information about the SGCE gene and related conditions:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes. The SGCE gene is listed in the OMIM database, along with information on associated diseases and genetic changes. You can find more information on OMIM’s website.
• Gene Testing Registries: There are several gene testing registries, such as the GeneTests Laboratory Directory, that provide information on laboratories offering testing for the SGCE gene. These registries can help you find a laboratory that offers specific genetic tests for SGCE-related conditions.
• Scientific Articles and Publications: Many scientific articles have been published on the SGCE gene and its role in various conditions, such as myoclonus-dystonia. PubMed is a valuable resource for finding scientific articles on this topic. You can search for relevant articles using keywords like “SGCE gene” or “myoclonus-dystonia.”
• Genetic Databases: There are multiple genetic databases that provide information on the SGCE gene, including genetic variant data and associated conditions. Some of the well-known databases include the Human Gene Mutation Database (HGMD) and ClinVar.
• Related Syndrome and Condition Information: In addition to myoclonus-dystonia, there are other conditions and syndromes associated with the SGCE gene. You can find more information on these conditions from reputable sources like the National Institutes of Health (NIH) or medical textbooks.

These resources can provide you with a wealth of information on the SGCE gene, genetic testing, associated conditions, and more. Utilizing these resources can help you stay informed about the latest research and advancements in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific catalog of genetic tests that provides information about the names, available tests, and other related resources for genes involved in various health conditions and diseases. It combines information from various databases, including OMIM, PubMed, and other scientific publications.

For the SGCE gene, which is associated with myoclonus-dystonia syndrome, the GTR lists several tests. These tests detect changes in the SGCE gene and can help diagnose this syndrome. They include:

• Sequence analysis of the SGCE gene: This test analyzes the DNA sequence of the SGCE gene to identify any genetic changes or variants that may be associated with myoclonus-dystonia syndrome or other related conditions.

• Deletion/duplication analysis of the SGCE gene: This test looks for deletions or duplications of specific regions within the SGCE gene. These changes can sometimes cause myoclonus-dystonia syndrome or other similar conditions.

Additional tests may also be available, depending on the specific variant or genetic changes suspected in the SGCE gene. These tests help in providing a more comprehensive diagnosis and understanding of the condition.

It is important to note that genetic testing for myoclonus-dystonia syndrome and other related diseases should be performed by qualified healthcare professionals. The results of these tests, along with other clinical information, can help guide treatment options and management strategies for individuals affected by these conditions.

For more information about genetic testing for the SGCE gene and related conditions, please refer to the GTR, OMIM, PubMed, and other reliable sources of scientific literature and resources.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on the SGCE gene. It provides information on the genetics and related diseases, including myoclonus-dystonia syndrome. PubMed is a database that contains articles from various scientific journals and allows researchers and scientists to access this information.

Scientific articles on PubMed provide information on the SGCE gene and its variants. These articles describe the changes in the gene that are associated with myoclonus-dystonia syndrome and other related conditions. They also provide references to additional resources, such as databases and registries, where researchers can find more information on the gene and related diseases.

Several articles on PubMed focus specifically on the SGCE gene and its role in myoclonus-dystonia syndrome. These articles provide in-depth information on the gene, its function in neurons, and the genetic tests that can be performed to detect changes in the gene. They also discuss the symptoms and treatment options for individuals with myoclonus-dystonia syndrome.

In addition to scientific articles, PubMed also includes other resources related to the SGCE gene. These resources include genetic databases, such as OMIM, that provide information on the gene and its associated diseases. PubMed also lists articles that have been published on other genes related to myoclonus-dystonia syndrome, providing a comprehensive view of the genetic basis of this condition.

Overall, PubMed is a valuable resource for researchers and scientists studying the SGCE gene and its role in myoclonus-dystonia syndrome. It provides access to scientific articles and other resources that can help in understanding the gene and its associated diseases.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs the scientific information related to genes and genetic diseases. It provides a comprehensive list of genes and the associated diseases or syndromes caused by changes in these genes. SGCE is one of the genes listed in the OMIM database, which is involved in the development of a specific syndrome called myoclonus-dystonia.

This catalog of genes and diseases from OMIM serves as a valuable resource for researchers and healthcare professionals. It provides detailed information about the genetic changes related to various diseases, including myoclonus-dystonia, and references to additional resources such as PubMed articles and genetic testing registries.

OMIM provides a standardized naming system for genes and diseases, which aids in the efficient communication and sharing of information in the field of genetics. The catalog includes not only SGCE but also many other genes and their associated diseases or conditions. It enables researchers to easily access relevant information about specific genes and diseases, facilitating their study and understanding of these conditions.

For example, if a researcher is interested in studying myoclonus-dystonia, they can find information about the SGCE gene in the OMIM catalog. They can learn about the different variants or changes in this gene that are associated with myoclonus-dystonia and access references to scientific articles or studies related to this topic.

In addition, OMIM provides information about other genes that may be related to myoclonus-dystonia or other similar conditions. This allows researchers to explore the genetic basis of these diseases further and discover potential new insights.

The catalog of genes and diseases from OMIM is an invaluable resource that consolidates scientific knowledge about genes and genetic diseases. It provides an organized and comprehensive overview of the genetic basis of various conditions, allowing healthcare professionals and researchers to stay updated on the latest scientific discoveries in the field of genetics.

Gene and Variant Databases

There are several databases available that provide information on the SGCE gene, its variants, and their relevance to health and other conditions. These databases serve as valuable resources for genetic testing, research, and clinical practice.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SGCE gene, including the names of associated diseases such as myoclonus-dystonia syndrome. OMIM also contains additional references to scientific articles related to this gene.

PubMed: PubMed is a database of scientific articles, including those related to the SGCE gene. It can be used to search for specific publications or to explore the latest research on the genetics and functions of SGCE and its variants. PubMed is a valuable resource for scientists and researchers working in the field of neurogenetics.

GeneTests: GeneTests is a publicly funded medical genetics information resource that provides access to a variety of genetic testing resources. It includes a registry of laboratories offering SGCE gene testing and lists the specific tests available for this gene. GeneTests also provides information on related diseases and genes.

SGCE Gene Mutation Database: This database specifically focuses on changes or variants in the SGCE gene. It provides detailed information on the different types of mutations and their impact on the development of myoclonus-dystonia syndrome. The SGCE Gene Mutation Database is a valuable resource for clinicians and researchers interested in this particular gene.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in the SGCE gene and its variants. They provide access to up-to-date information and help advance our understanding of the genetics and biology of myoclonus-dystonia syndrome.

References

• SGCE gene – Information on this gene and related genes can be found here.
• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive list of genes and genetic conditions. More information on the SGCE gene and related conditions can be found here.
• PubMed – PubMed is a widely used scientific database that contains articles related to genetic research. Some articles related to the SGCE gene and myoclonus-dystonia syndrome can be found here.
• GeneTests – GeneTests is a resource for information on genetic testing, including tests for the SGCE gene. More information can be found here.
• Genetic and Rare Diseases Information Center (GARD) – GARD provides resources and information on genetic conditions and rare diseases. More information on myoclonus-dystonia syndrome can be found here.
• SGCE Registry – The SGCE Registry is a database that collects information on individuals with SGCE gene variants. More information can be found here.