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X-linked dilated cardiomyopathy (XDCM) is a genetic condition that affects the heart muscles and typically causes the heart to become enlarged and weakened. It is classified as a spectrum of diseases that are associated with mutations in the dystrophinopathy gene.

The dystrophinopathy gene is also known as the dystrophin gene and is responsible for producing a protein called dystrophin. Dystrophin is essential for maintaining the structure and function of muscle cells, including those in the heart. Mutations in the dystrophin gene can lead to the development of dilated cardiomyopathy.

XDCM is inherited in an X-linked pattern, which means it primarily affects males. However, females can also be carriers of the gene mutation and have a milder form of the condition. The frequency of XDCM is relatively low, but it is more commonly observed among certain populations.

Clinical trials and scientific studies are being conducted to learn more about the causes and genetic inheritance of XDCM. Additional information about this condition, including patient resources and advocacy support, can be found in the Centralized Information Repository for Genetic and Genomic Testing resources.

For more information about X-linked dilated cardiomyopathy, including research articles, genetic testing resources, and references, you can visit OMIM (Online Mendelian Inheritance in Man) or PubMed. The ClinicalTrials.gov website also provides information on ongoing clinical trials related to XDCM and other related diseases.

Frequency

X-linked dilated cardiomyopathy is a rare disease that affects the heart. The frequency of this condition is not well known, but it is estimated to occur in less than 1 out of every 3,000 individuals. However, this frequency may vary depending on the population and geographic location.

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Additional genetic studies have shown that mutations in the dystrophin gene are the underlying cause of X-linked dilated cardiomyopathy. Mutations in this gene can lead to a spectrum of heart muscle problems, from mild dilated cardiomyopathy to severe heart failure.

Genet is a comprehensive online catalog of genes and genetic phenotypes. It provides references to scientific articles, clinical trials, and other resources for information on inherited diseases. A search on Genet for “X-linked dilated cardiomyopathy” will provide a list of genes associated with this condition, as well as more information on the inheritance pattern and clinical features.

The Online Mendelian Inheritance in Man (OMIM) is another valuable resource for learning about the genetics of X-linked dilated cardiomyopathy. It provides a comprehensive overview of the condition, including its associated genes, inheritance patterns, and clinical manifestations.

Patient advocacy groups such as the X-linked Dilated Cardiomyopathy Research and Support Foundation provide support and resources for individuals with this condition and their families. They also fund research studies to improve our understanding of X-linked dilated cardiomyopathy and develop new treatments.

It is important for individuals with X-linked dilated cardiomyopathy to undergo genetic testing for the dystrophin gene to confirm the diagnosis and assess the risk of passing the condition on to their children.

In summary, X-linked dilated cardiomyopathy is a rare genetic condition that affects the heart. It is typically classified as a dystrophinopathy and is associated with mutations in the dystrophin gene. The frequency of this condition is relatively low, but more research is needed to accurately determine its prevalence. For more information on X-linked dilated cardiomyopathy, including resources and support, please refer to the references cited and the websites of relevant patient advocacy groups.

Causes

X-linked dilated cardiomyopathy is a genetic condition that affects the heart muscles. It is classified as an X-linked disease, meaning that it is caused by mutations in a gene found on the X chromosome. The gene associated with X-linked dilated cardiomyopathy is called dystrophinopathy. This condition typically affects males more than females due to the inheritance pattern of the X chromosome.

The dystrophinopathy gene plays a central role in the structure and function of the heart muscles. Mutations in this gene can lead to the development of dilated cardiomyopathy, which is characterized by the enlargement and weakened pumping ability of the heart. The exact mechanism by which mutations in the dystrophinopathy gene cause cardiomyopathy is not fully understood, and ongoing research is being conducted to learn more about the underlying causes of this condition.

Other genes may also be associated with dilated cardiomyopathy, and further research is being conducted to determine their roles in the development of the disease. The frequency of dilated cardiomyopathy caused by mutations in these other genes is currently unknown, but scientific studies and genetic testing resources are available to provide more information on the spectrum of genes associated with this condition.

Advocacy and support organizations such as OMIM (Online Mendelian Inheritance in Man) provide additional information, articles, and references on dilated cardiomyopathy and related heart diseases. OMIM is a comprehensive catalog of information on human genes and genetic disorders, and it serves as a central resource for genetic research and testing.

Learn more about X-linked dilated cardiomyopathy:

  • Pubmed – a database of scientific articles where you can find more information about genes associated with the disease.
  • OMIM – an online catalog of human genes and genetic disorders where you can find more information about X-linked dilated cardiomyopathy.
  • Genet – genetic testing resources and information about dilated cardiomyopathy and other heart diseases.
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Learn more about the gene associated with X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy (XDCM) is a genetic condition that affects the heart muscles. It is classified as a type of dilated cardiomyopathy, which is characterized by the enlargement and weakening of the heart chambers.

XDCM is associated with mutations in the DMD gene, which provides instructions for making the dystrophin protein. The dystrophin protein plays a critical role in maintaining the structural integrity of muscles, including the heart muscles.

The DMD gene is located on the X chromosome, which means that the condition predominantly affects males. Females who carry a mutation in one copy of the DMD gene usually do not show symptoms of XDCM due to the presence of a second, unaffected copy of the gene.

Mutations in the DMD gene can disrupt the production or function of the dystrophin protein, leading to the development of XDCM. The exact mechanisms through which these mutations cause the disease are not fully understood and are the subject of ongoing research.

XDCM is typically diagnosed based on clinical symptoms, family history, and genetic testing. Genetic testing can identify mutations in the DMD gene and provide confirmatory diagnosis.

Patients with XDCM may experience symptoms such as fatigue, shortness of breath, exercise intolerance, and abnormal heart rhythms. The severity and progression of the disease can vary among affected individuals.

There are currently no specific treatments for XDCM, and management involves supportive care and treatment of complications. Clinicaltrials.gov and other resources provide information on ongoing research studies and clinical trials that aim to find new treatments for XDCM.

For more information about X-linked dilated cardiomyopathy, the DMD gene, and genetic testing, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM): a comprehensive catalog of human genes and genetic diseases. The entry on X-linked dilated cardiomyopathy (OMIM #302045) provides detailed information about the condition and the associated gene.
  2. PubMed: a database of scientific articles. Searching for “X-linked dilated cardiomyopathy” or “DMD gene” will provide you with a list of scientific studies and articles on the topic.
  3. Advocacy and patient support organizations: organizations such as the X-linked Dilated Cardiomyopathy Registry and the Muscular Dystrophy Association offer resources and support for individuals and families affected by XDCM and other dystrophinopathies.

By learning more about the gene associated with X-linked dilated cardiomyopathy, we can better understand the causes and mechanisms of the disease and work towards developing effective treatments in the future.

Inheritance

X-linked dilated cardiomyopathy (XLCM) is a genetic condition typically inherited in an X-linked recessive pattern. This means that the condition is caused by mutations in a gene located on the X chromosome. In males, who have one X and one Y chromosome, a mutation in the X chromosome gene can lead to the development of XLCM. Females, who have two X chromosomes, usually have one healthy copy of the gene, which provides some protection against the condition.

The gene associated with XLCM is called the dystrophin gene. Mutations in this gene can cause a spectrum of diseases, from Duchenne muscular dystrophy to XLCM. XLCM is classified as a dilated cardiomyopathy (DCM), which is a condition characterized by enlargement and weakening of the heart. The dystrophin gene is responsible for producing a protein called dystrophin, which is important for the normal function of muscles, including the heart.

Inheritance of XLCM can be further understood by examining the frequency of the condition in different populations. XLCM is estimated to occur in about 1 in 300,000 individuals in the general population. However, in certain populations with a higher frequency of XLCM, such as the Dutch population, the prevalence can be 1 in 6,000 individuals.

Genetic testing is available to diagnose XLCM. Testing for specific mutations in the dystrophin gene can confirm a diagnosis in individuals with clinical symptoms consistent with XLCM. This testing can be done through various resources, including genetic testing laboratories and specialized cardiovascular genetic clinics.

Advocacy groups and organizations such as the X-LINKED Cardiomyopathy Registry provide support and resources for individuals and families affected by XLCM. Their websites offer information about the condition, scientific research and clinical studies, as well as additional resources and references. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed provide central repositories for scientific articles and studies on XLCM and related genes.

As XLCM is a genetic condition, genetic counseling may also be recommended for affected individuals and their families. Genetic counselors can provide information about the inheritance of the condition, the risk of passing it on to future generations, and available testing options.

ClinicalTrials.gov is a valuable resource for finding clinical trials related to XLCM and other genetic diseases. These trials can provide opportunities for individuals affected by XLCM to participate in research studies aimed at advancing our understanding of the condition and developing new treatment options.

Other Names for This Condition

X-linked dilated cardiomyopathy is also known by several other names, including:

  • Cardiomyopathy, dilated, with Emery-Dreifuss muscular dystrophy
  • Cardiomyopathy, dilated, with X-linked Emery-Dreifuss muscular dystrophy
  • Cardiomyopathy, familial dilated, 1B
  • Dilated cardiomyopathy, X-linked
  • EDMD3
  • Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy
  • Emery-Dreifuss muscular dystrophy, X-linked and dilated cardiomyopathy
  • X-linked dilated cardiomyopathy

These alternate names for X-linked dilated cardiomyopathy are commonly used in scientific publications and medical resources. They provide additional information about the condition, its associated genes, and its inheritance pattern. Learning about these other names can help individuals find more research articles, genetic testing resources, advocacy and patient support groups, and clinical trials related to X-linked dilated cardiomyopathy.

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For more information about other names and the X-linked dilated cardiomyopathy condition, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic diseases. OMIM provides detailed scientific and clinical information about X-linked dilated cardiomyopathy, its causes, associated genes, clinical studies, and references to additional resources.

Additional Information Resources

For more information about X-linked dilated cardiomyopathy and other genetic heart diseases, you can refer to the following resources:

  • PubMed: A database of scientific articles and studies classified from various sources. You can find articles and studies on the spectrum of X-linked dilated cardiomyopathy, their inheritance, and clinical trials related to the disease. Visit PubMed to access these resources.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides information on the names and genes associated with X-linked dilated cardiomyopathy. OMIM is a valuable resource to learn more about the genes, inheritance frequency, and clinical features of this condition. Visit OMIM for more information.
  • Genetic Testing: If you or someone you know has X-linked dilated cardiomyopathy, genetic testing can provide valuable information about the specific gene mutation causing the condition. Consult a healthcare professional or genetic counselor for more information on genetic testing options.
  • Advocacy Groups: There are several patient advocacy groups and organizations that provide support, resources, and information for individuals and families affected by X-linked dilated cardiomyopathy. These groups often have websites, online support communities, and information on research and clinical trials. Search for X-linked dilated cardiomyopathy advocacy groups for more information.
  • Central Dystrophinopathy Gene Catalog: The Central Dystrophinopathy Gene Catalog is a comprehensive database of genes associated with dilated cardiomyopathy and other related diseases. This resource provides detailed information about the genetic causes of dilated cardiomyopathy and their clinical implications. Visit the catalog for more information on the genes associated with X-linked dilated cardiomyopathy.

These resources can provide additional information and support for individuals and families affected by X-linked dilated cardiomyopathy. Remember to consult with medical professionals for personalized advice and guidance.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of X-linked dilated cardiomyopathy. Through various studies and research, scientists have identified specific genes associated with this condition.

The most commonly affected gene in X-linked dilated cardiomyopathy is the DMD gene, which is typically classified as an X-linked gene. Mutations in the DMD gene can lead to a wide spectrum of muscle diseases, with X-linked dilated cardiomyopathy being one of them.

Genetic testing can help identify mutations in the DMD gene, providing valuable information about the causes and inheritance patterns of this condition. Additional genes associated with X-linked dilated cardiomyopathy may also be tested, depending on the patient’s clinical presentation.

There are several resources available to support patients and their families in understanding genetic testing for X-linked dilated cardiomyopathy:

  • OMIM: The OMIM database provides comprehensive scientific information on genes, genetic diseases, and their associated phenotypes.
  • PubMed: PubMed is a valuable resource for research articles and studies related to X-linked dilated cardiomyopathy and other related conditions.
  • GeneReviews: GeneReviews offers in-depth clinical and genetic information about various diseases, including X-linked dilated cardiomyopathy.
  • ClinicalTrials.gov: This resource provides information on ongoing clinical trials and research studies related to X-linked dilated cardiomyopathy.

Advocacy groups and organizations dedicated to supporting patients and families affected by X-linked dilated cardiomyopathy can also provide additional resources and support. These organizations often offer educational materials, support groups, and access to experts in the field.

In summary, genetic testing is an essential tool for diagnosing and managing X-linked dilated cardiomyopathy. By learning more about the genes associated with this condition and utilizing the available resources, patients and their families can gain a better understanding of the disease and make informed healthcare decisions.

Patient Support and Advocacy Resources

Information:

  • Learn more about X-linked dilated cardiomyopathy, including its causes, frequency, and associated genes, from resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
  • Find articles and scientific studies on the condition and related diseases.
  • Get information about genetic testing for X-linked dilated cardiomyopathy and other genetic conditions.

Patient Support:

  • Connect with patient support organizations that provide resources and support for individuals and families affected by X-linked dilated cardiomyopathy.
  • Access support groups, online forums, and community events.
  • Seek advice and guidance from experts and fellow patients who have experience with the condition.

Advocacy:

  • Support and participate in advocacy efforts to raise awareness and funds for research on X-linked dilated cardiomyopathy.
  • Join advocacy organizations that work to improve the lives of individuals affected by heart diseases and genetic conditions.
  • Stay updated on the latest advancements and clinical trials through resources like ClinicalTrials.gov.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov provides a comprehensive listing of research studies related to X-linked dilated cardiomyopathy, a genetic condition characterized by a weakened and enlarged heart. These studies aim to understand the causes of the disease, identify associated genes, and develop effective treatment strategies. This section highlights some key resources available on ClinicalTrials.gov and their relevance to the field of X-linked dilated cardiomyopathy.

  • Genetic Testing and Counseling: ClinicalTrials.gov offers information on research studies focusing on genetic testing for X-linked dilated cardiomyopathy. These studies aim to improve diagnostic accuracy and provide patients and their families with valuable information about their genetic condition. They also assess the inheritance patterns and frequency of the disease within specific populations.
  • Gene Therapy Research: Researchers are investigating the use of gene therapy to restore the function of the dystrophin gene, which is associated with X-linked dilated cardiomyopathy. Clinical trials are exploring various techniques to deliver the functional copy of the gene to the patient’s heart muscles. These studies provide essential information about the safety and efficacy of gene therapy for the treatment of this condition.
  • Studies on Disease Spectrum: ClinicalTrials.gov catalogs studies that aim to understand the spectrum of X-linked dilated cardiomyopathy, its clinical manifestations, and associated genes. These studies explore the genetic and physiological factors that contribute to the severity and progression of the disease. They provide valuable insights into the underlying mechanisms and potential therapeutic targets.
  • Advocacy and Support: ClinicalTrials.gov also includes resources for advocacy groups, patient support organizations, and research foundations dedicated to X-linked dilated cardiomyopathy. These resources offer information about ongoing clinical trials, patient experiences, and additional support services. They play a central role in raising awareness, supporting patients and families, and facilitating collaboration between researchers.
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By utilizing the comprehensive information available on ClinicalTrials.gov, researchers, healthcare professionals, and patients can access valuable resources, learn about ongoing research studies, and stay updated with the latest scientific advancements in X-linked dilated cardiomyopathy.

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 valuable resource for researchers, healthcare professionals, and patients who want to learn more about genetic conditions, their associated genes, and the latest scientific research.

Genes associated with X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy is a condition that affects the heart and is caused by mutations in specific genes. The following genes have been identified as associated with this condition:

  • Dystrophin (DMD): Mutations in the dystrophin gene can cause X-linked dilated cardiomyopathy. Dystrophin is a protein that plays a critical role in maintaining the structure and function of muscle cells, including those in the heart.

Causes and inheritance of X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy is primarily caused by mutations in the DMD gene. This condition follows an X-linked inheritance pattern, which means that it primarily affects males. Females with one mutated copy of the gene may be carriers of the condition but typically do not show symptoms.

Clinical features and symptoms

X-linked dilated cardiomyopathy is characterized by the dilation and weakened function of the heart. Symptoms can include heart failure, arrhythmias, and sudden cardiac death. The severity of symptoms can vary, ranging from mild to severe. It is important to note that not all individuals with mutations in the associated gene will develop symptoms of this condition.

Diagnosis and genetic testing

Genetic testing can be done to confirm a diagnosis of X-linked dilated cardiomyopathy. Testing for mutations in the DMD gene can provide valuable information about the specific gene variant and help guide treatment options.

Resources for patients and advocacy

For more information about X-linked dilated cardiomyopathy, patients and their families can turn to various resources and advocacy organizations. These include:

  • OMIM: The OMIM website provides detailed clinical information, scientific articles, and references for further research.
  • PubMed: PubMed is a database of scientific studies and articles that can provide more in-depth information on X-linked dilated cardiomyopathy.
  • ClinicalTrials.gov: This registry provides information on clinical trials that are investigating potential treatments for X-linked dilated cardiomyopathy.
  • Genetic advocacy organizations: These organizations provide support, resources, and information for patients and their families affected by X-linked dilated cardiomyopathy.

Learn more

To learn more about X-linked dilated cardiomyopathy and other genetic diseases, visit the OMIM website. The catalog of genes and diseases on OMIM is continually updated with new research findings and clinical information.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about X-linked dilated cardiomyopathy and other associated diseases. Researchers and clinicians can find resources and support in understanding the causes, genet frequency, and clinical spectrum of this condition.

PubMed is a central resource for scientific articles and research studies on X-linked dilated cardiomyopathy. It is a database that provides access to a vast amount of published research in the field of genetics, heart diseases, and related topics.

Genetic testing is essential for diagnosing X-linked dilated cardiomyopathy. PubMed offers information about the genes associated with this condition, including the dystrophinopathy gene. The database also provides information on inheritance patterns, additional genes that may contribute to cardiomyopathy, and the genetic spectrum of the disease.

For patients and advocacy groups looking for more information, PubMed can be a valuable resource. Scientific articles published on PubMed can help patients learn more about their condition, understand the underlying genetic causes and implications, and find resources for support and advocacy.

ClinicalTrials.gov is another resource mentioned in PubMed articles. It provides information on ongoing clinical trials that may be relevant to X-linked dilated cardiomyopathy. This information can be helpful for patients interested in participating in research studies aimed at developing new treatments or understanding the disease better.

PubMed also catalogues references to other resources, such as OMIM (Online Mendelian Inheritance in Man), which is a comprehensive database that provides information about genetic disorders, including X-linked dilated cardiomyopathy. This additional information can further support the scientific understanding and management of the condition.

In conclusion, PubMed is a valuable platform for accessing scientific articles and research studies on X-linked dilated cardiomyopathy and other associated diseases. It offers a wealth of information about the genetic causes, clinical spectrum, and available resources for patients and researchers alike.

References

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