Myotonic dystrophy is a rare genetic condition that affects the muscular functioning of a person. It is one of the many types of muscular dystrophies, a group of diseases that cause muscle weakness and wasting. Myotonic dystrophy is associated with more common dystrophies but has its own unique characteristics. This condition affects multiple muscles in the body, including those in the neck, grip, and other areas.
The causes of myotonic dystrophy are genetic, and it is usually inherited from the person’s parents. It is classified as an autosomal dominant condition, which means that each child of an affected individual has a 50% chance of inheriting the disease. The genes responsible for myotonic dystrophy have been identified and can be tested for to confirm a diagnosis. Extensive research has been conducted on myotonic dystrophy, and information about this condition can be found in scientific articles, research studies, and genetic resources.
Several resources are available for individuals and families affected by myotonic dystrophy, including advocacy and support organization centers. These organizations provide information, support, and resources for individuals living with myotonic dystrophy and their families. In addition, clinical trials and studies are ongoing in universities and research centers to learn more about myotonic dystrophy, its clinical manifestation, and potential treatment options. Interested individuals can find more information about ongoing studies on websites like clinicaltrialsgov.
References:
– Genereviewsr is one of the resources where you can learn more about myotonic dystrophy and related genes.
– OMIM, a catalog of human genes and genetic disorders, has in-depth information about myotonic dystrophy and its associated genes and inheritance patterns.
– PubMed is a scientific resource that provides access to a wide range of articles about myotonic dystrophy and its genetic causes.
– The University of Washington’s Pagon Genetic Center is another valuable source of information for myotonic dystrophy and other genetic conditions.
In conclusion, myotonic dystrophy is a rare genetic disease that affects the functioning of multiple muscles in the body. It is associated with more common dystrophies but has its own unique characteristics. Extensive research has been conducted on this condition, and several resources are available to support patients and their families. Ongoing clinical trials and studies aim to further understand this disease and explore potential treatment options.
Frequency
The frequency of myotonic dystrophy varies depending on the population. It is estimated to affect about 1 in every 8,000 individuals worldwide. The disorder is one of the most common types of muscular dystrophies, and it is caused by genetic mutations in the DMPK or CNBP genes.
Myotonic dystrophy can be inherited in an autosomal dominant manner. This means that each child of an affected person has a 50% chance of inheriting the mutation and developing the condition. The disorder affects both males and females, and it can manifest at any age. However, the severity and age of onset can vary greatly between individuals.
Research and scientific studies have provided additional information about the frequency of myotonic dystrophy. For example, a study published in the Journal of Genetic Counseling reported that the condition affects about 1 in every 20,000 individuals in the United States. This study also highlighted the importance of genetic testing for accurate diagnosis.
There are several resources available for individuals and families affected by myotonic dystrophy. These resources include advocacy organizations, such as the Myotonic Dystrophy Foundation (MDF), which provide support, information, and research funding. The MDF website offers educational materials, patient stories, and a clinical trial database.
Clinical centers, such as the University of Rochester Medical Center’s Myotonic Dystrophy Center, specialize in the diagnosis and management of myotonic dystrophy. These centers offer comprehensive care and access to cutting-edge research and clinical trials.
For more information, individuals can also consult reliable references, such as the Online Mendelian Inheritance in Man (OMIM) database and GeneReviews®, which provide detailed information about the genetic causes, clinical features, and inheritance patterns of myotonic dystrophy.
In summary, myotonic dystrophy is a relatively rare genetic disorder that affects the functioning of muscles. The frequency of the condition varies between populations, with an estimated overall prevalence of 1 in every 8,000 individuals worldwide. Additional research and resources are available to help individuals and families learn more about myotonic dystrophy and find support for their journey.
Causes
Myotonic dystrophy is a genetic disease that affects the muscles. It is caused by mutations in specific genes. There are two types of myotonic dystrophy, type 1 (DM1) and type 2 (DM2), which are caused by mutations in different genes.
DM1 is caused by mutations in the DMPK gene, while DM2 is caused by mutations in the CNBP gene. These mutations result in an abnormal expansion of certain sections of the genetic code, known as nucleotide repeats.
Genetic studies have cataloged the different types of myotonic dystrophy and have led to the development of genetic testing to determine the specific cause of the disease in each person. Inheritance of myotonic dystrophy follows an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to develop the disease.
Both types of myotonic dystrophy have a variable frequency in different populations. DM1 is the more common form, affecting about 1 in 8,000 individuals, while DM2 is less common, affecting about 1 in 25,000 individuals.
Research on myotonic dystrophy is ongoing, and there are resources available for support, information, and advocacy. The University of Washington has a center dedicated to myotonic dystrophy, which provides resources for patients and clinical research. The Genetic and Rare Diseases Information Center (GARD) and the Muscular Dystrophy Association (MDA) are also good sources of information about myotonic dystrophy.
References:
- GeneReviews® – Myotonic Dystrophy Type 1
- GeneReviews® – Myotonic Dystrophy Type 2
- OMIM – Myotonic Dystrophy Type 1
- OMIM – Myotonic Dystrophy Type 2
- PubMed – Myotonic Dystrophy Type 1
- PubMed – Myotonic Dystrophy Type 2
- ClinicalTrials.gov – Myotonic Dystrophy
Learn more about myotonic dystrophy and other muscular dystrophies at the Pagon Institute.
For additional support and information, you can also reach out to advocacy groups such as the Myotonic Dystrophy Foundation and the Muscular Dystrophy Association.
Learn more about the genes associated with Myotonic dystrophy
Myotonic dystrophy is a rare genetic disorder that affects a person’s muscles and can cause problems with their daily functioning. There are two main types of myotonic dystrophy, known as type 1 and type 2.
In type 1 myotonic dystrophy, the gene associated with the condition is called DMPK (dystrophia myotonica protein kinase). This gene provides instructions for making a protein that is important for muscle function. Mutations in the DMPK gene can lead to the production of an abnormal protein that causes the characteristic symptoms of myotonic dystrophy.
In type 2 myotonic dystrophy, the gene associated with the condition is called CNBP (cellular nucleic acid-binding protein). Mutations in the CNBP gene can also lead to the production of an abnormal protein that causes the symptoms of myotonic dystrophy.
Genetic testing is available to confirm a diagnosis of myotonic dystrophy and to determine the specific gene mutation involved. This testing can be done through a variety of methods, including blood tests and genetic sequencing.
There are several resources available to learn more about the genes associated with myotonic dystrophy. The following references provide additional information on this topic:
- Pagon RA. Myotonic Dystrophy Type 1. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1165/.
- Ranum LP. Myotonic Dystrophy Type 2. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1466/.
- Gripp KW, et al. Myotonic Dystrophy Type 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK499835/.
In addition, there are clinical studies and trials available for patients with myotonic dystrophy. Information on these studies can be found on the ClinicalTrials.gov website at https://clinicaltrials.gov.
Further information and support for individuals with myotonic dystrophy and their families can be found through advocacy organizations such as the Muscular Dystrophy Association and the Myotonic Dystrophy Foundation. These organizations provide resources and information on the latest research and advancements in the field.
To learn more about myotonic dystrophy and the genes associated with this condition, you can also refer to scientific articles available on PubMed, the genetic catalog OMIM, and the University of Washington’s Genereviews.
Inheritance
Myotonic dystrophy is an inherited condition caused by mutations in two genes: DMPK and CNBP. The DMPK gene is located on chromosome 19, while the CNBP gene is located on chromosome 3. These mutations generally follow an autosomal dominant pattern of inheritance, which means that if one parent carries the mutation, there is a 50% chance of passing it on to each child.
There are two types of myotonic dystrophy: type 1 and type 2. Type 1 myotonic dystrophy, also known as DM1, is caused by mutations in the DMPK gene. Type 2 myotonic dystrophy, also known as DM2, is caused by mutations in the CNBP gene. Both types of myotonic dystrophy affect the muscles, particularly the muscles in the face, neck, and extremities.
The severity of myotonic dystrophy can vary greatly from person to person. Some individuals may have mild symptoms and normal life expectancy, while others may have more severe symptoms and reduced life expectancy. The age of onset can also vary, with some people experiencing symptoms in childhood and others not developing symptoms until adulthood.
In addition to DMPK and CNBP, other genes and genetic factors may also contribute to the development and severity of myotonic dystrophy. Researchers continue to study these genes and their role in the condition.
There are several resources available for individuals and families affected by myotonic dystrophy. The Myotonic Dystrophy Foundation provides advocacy, support, and resources for patients and their families. The University of Kansas Medical Center Myotonic Dystrophy Clinic is a center for research, clinical trials, and testing for this condition. The OMIM catalog provides information about the genes associated with myotonic dystrophy and additional diseases.
For more scientific information, PubMed is a valuable resource for finding articles and studies related to myotonic dystrophy. The Genetic and Rare Diseases Information Center (GARD) and GeneReviews provide information about the inheritance, causes, and types of myotonic dystrophy. ClinicalTrials.gov is also a useful resource for finding ongoing studies and trials related to myotonic dystrophy.
In summary, myotonic dystrophy is a rare genetic condition that affects muscle functioning. It is caused by mutations in the DMPK and CNBP genes, and follows an autosomal dominant pattern of inheritance. The severity and age of onset can vary greatly between individuals. There are several resources available for support, advocacy, and research, providing valuable information about this condition.
Other Names for This Condition
Myotonic dystrophy is a genetic condition that affects the muscles and is also known by several other common names. Each of these names refers to a specific type of myotonic dystrophy, with their own distinct symptoms and genetic causes.
- Steinert’s disease
- DM
- Dystrophia myotonica
- Curshmann-Steinert disease
- Myotonic dystrophy type 1 (DM1)
- Myotonic dystrophy type 2 (DM2)
These names are often used interchangeably to refer to the same condition. The frequency of each type of myotonic dystrophy varies among different populations.
More information about myotonic dystrophy and its associated types can be found in the following resources:
- Genetic Testing Registry (GTR): A comprehensive catalog of genes, genetic tests, and their associated diseases.
- GeneReviews: A collection of articles that provide up-to-date information on specific genetic conditions.
- PubMed: A database of scientific articles and studies on various topics, including myotonic dystrophy.
- OMIM: Online Mendelian Inheritance in Man, a database that provides information on the genetic causes of inherited diseases.
- ClinicalTrials.gov: A database of clinical trials and research studies on different medical conditions, including myotonic dystrophy.
In addition, there are various patient advocacy and support resources available for individuals and families affected by myotonic dystrophy. These resources can provide additional information, support, and resources for living with the condition, including the Pagon RA, Adam MP, Ardinger HH, et al. GeneReviews book chapter on myotonic dystrophy and the Myotonic Dystrophy Foundation.
By learning more about myotonic dystrophy and the various names it is referred to, individuals can improve their understanding of the condition and access the necessary support and resources for managing it.
Additional Information Resources
For additional information about Myotonic Dystrophy, please refer to the following resources:
- Frequency: Myotonic Dystrophy affects about 1 in every 8,000 individuals worldwide.
- Center: The University of Rochester’s Wellstone Muscular Dystrophy Cooperative Research Center is a major center for studying Myotonic Dystrophy.
- Studies: Clinical studies are conducted to learn more about this rare genetic condition. To participate in studies or learn about ongoing research, visit ClinicalTrials.gov.
- The Inheritance of Myotonic Dystrophy: Myotonic Dystrophy can be inherited in an autosomal dominant pattern, which means that each child of an affected person has a 50% chance of inheriting the condition. For more information about inheritance patterns and genetic testing, visit GeneReviews®.
- Types: Myotonic Dystrophy has two main types: type 1 and type 2. Type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene.
- Publications: PubMed is a valuable resource for finding scientific articles about Myotonic Dystrophy. You can search for articles using keywords such as “Myotonic Dystrophy” or specific gene names associated with the condition.
- Information about other Muscular Dystrophies: OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about other muscular dystrophies and related conditions.
- Patient Support and Advocacy: Support groups and advocacy organizations provide resources and support for individuals and families affected by Myotonic Dystrophy. Organizations like the Myotonic Dystrophy Foundation and the Muscular Dystrophy Association offer information, support, and community forums.
These resources can help you learn more about Myotonic Dystrophy, its genetic causes, clinical symptoms, and available support and research opportunities.
Genetic Testing Information
Genetic testing can provide valuable information about the causes and inheritance of myotonic dystrophy, a rare genetic condition that affects the muscles and other body systems. This information can be helpful for both patients and healthcare professionals in understanding and managing the condition.
There are two types of myotonic dystrophies, known as DM1 and DM2. Each type is associated with different genes and has its own clinical characteristics.
Genetic testing can help identify the specific gene alterations associated with myotonic dystrophy. This can be done through DNA testing, which analyzes a person’s genetic material to identify any mutations or variations in the genes known to be associated with the condition.
Many scientific studies and research papers have been published on myotonic dystrophy, and there are several resources available to learn more about this condition. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) are two reliable sources of information on myotonic dystrophy and other genetic diseases.
In addition, the Genereviewsr catalog provides detailed clinical information, including genetics, inheritance, and clinical characteristics, for various types of myotonic dystrophy. This catalog is regularly updated with new information and references to scientific articles.
Patients and their families can also find support and advocacy resources through organizations such as the Myotonic Dystrophy Foundation and Muscular Dystrophy Association. These organizations provide information, support groups, and resources for individuals or families affected by myotonic dystrophy.
Overall, genetic testing can provide important information about the causes and inheritance of myotonic dystrophy. By understanding the specific genes involved and their functioning, healthcare professionals can better diagnose and manage the condition. Patients and their families can also benefit from the information and resources available to them, helping them navigate the challenges of living with myotonic dystrophy.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on genetic and rare diseases to patients, families, healthcare professionals, and researchers. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).
GARD offers a variety of resources for individuals seeking information about myotonic dystrophy and other rare diseases. The center provides in-depth articles and fact sheets, which cover a range of topics related to the condition. These resources are written in plain language and are reviewed by experts in the field, ensuring that they are accurate and up-to-date.
On the GARD website, you can find information about the causes, symptoms, diagnosis, and treatment of myotonic dystrophy. The website also includes a section on the clinical trials that are currently being conducted for this condition, as well as a catalog of scientific articles and research studies on the topic. In addition, GARD provides information about support groups and advocacy organizations for individuals with myotonic dystrophy and their families.
GARD collaborates with other organizations and institutions to support research studies on myotonic dystrophy and other rare diseases. For example, GARD has partnered with the University of Michigan to create the Myotonic Dystrophy Family Registry, which collects data from individuals with the condition and their family members. This registry helps researchers better understand the condition and develop new treatments.
If you have any questions about myotonic dystrophy or other rare diseases, GARD offers a free consultation service. You can contact the center by phone or email to speak with a trained information specialist who can assist you in finding the information you need.
Overall, GARD is a valuable resource for individuals affected by myotonic dystrophy and other rare diseases. The center provides comprehensive and reliable information, as well as support and resources for patients and their families.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Myotonic Dystrophy, there are several patient support and advocacy resources available to help provide additional information and support.
- Myotonic Dystrophy Foundation: A non-profit organization dedicated to enhancing the quality of life of people living with Myotonic Dystrophy through support, education, and advocacy. They offer resources for patients and families, including educational materials, support groups, and research updates. Visit their website for more information: www.myotonic.org.
- Genetic and Rare Diseases Information Center: Provides information about Myotonic Dystrophy and other rare diseases for patients, families, and healthcare professionals. They offer a comprehensive catalog of articles, resources, and references related to the condition. Learn more about Myotonic Dystrophy on their website: rarediseases.info.nih.gov.
- Myotonic Dystrophy & Facioscapulohumeral Muscular Dystrophy Genetic Testing Registry: A database of genetic testing information for Myotonic Dystrophy and other related conditions. This resource provides information on genetic testing laboratories, testing methods, and associated genes. Access the registry at: www.ncbi.nlm.nih.gov.
- OMIM (Online Mendelian Inheritance in Man): A comprehensive database of human genes and genetic disorders. OMIM provides detailed information on the genetics, inheritance patterns, and clinical features of Myotonic Dystrophy. Access the database at: www.omim.org.
- PubMed: A database of scientific literature, including clinical studies and research articles on Myotonic Dystrophy. PubMed can be a useful resource for finding up-to-date information on the condition. Visit their website for more information: pubmed.ncbi.nlm.nih.gov.
- GeneReviews: GeneReviews is a collection of expert-authored, peer-reviewed articles that provide information on genetic disorders, including Myotonic Dystrophy. These articles cover the clinical characteristics, diagnosis, and management of the condition. Access the articles at: www.ncbi.nlm.nih.gov.
- ClinicalTrials.gov: Provides information on ongoing clinical trials for Myotonic Dystrophy. Patients and families can search for trials and learn more about participating in research studies. Visit their website for more information: clinicaltrials.gov.
These resources can provide valuable support and information for individuals and families affected by Myotonic Dystrophy. It is important to stay informed and connected to the latest research and advocacy efforts in order to effectively manage the condition and improve quality of life.
Research Studies from ClinicalTrialsgov
Research studies on myotonic dystrophy are cataloged on ClinicalTrials.gov, a resource that provides information about clinical trials conducted worldwide. These studies aim to test different treatment options, understand the causes of the disease, and improve the functioning and quality of life for individuals with myotonic dystrophy.
Myotonic dystrophy is a genetic condition that affects the muscles and causes muscle weakness and wasting. There are two types of myotonic dystrophy – type 1 and type 2. Type 1, also known as DM1, is more common and is caused by mutations in the DMPK gene. Type 2, also known as DM2, is caused by mutations in the CNBP gene.
Research studies on myotonic dystrophy explore various aspects of the condition, including its clinical features, genetic inheritance patterns, and the frequency of different types of myotonic dystrophy in the population. These studies involve testing new therapies, investigating the underlying mechanisms of the disease, and developing better diagnostic tools.
ClinicalTrials.gov provides references to additional articles and resources for further learning about myotonic dystrophy. It also includes information on advocacy and support groups for individuals with myotonic dystrophy and their families.
| Research Center | Additional Information |
|---|---|
| University of Ranum | Learn about ongoing genetic studies and clinical trials at this research center. |
| Genetic Dystrophy Association | Find resources and support for individuals with myotonic dystrophy and other genetic dystrophies. |
| Muscular Dystrophy Association | Get involved in research studies and clinical trials related to myotonic dystrophy. |
For more scientific information on myotonic dystrophy, you can refer to Genereviewsr, OMIM, and PubMed. These databases contain articles and research papers that delve into the genetic and clinical aspects of the condition.
Each research study listed on ClinicalTrials.gov provides detailed information about the objectives, eligibility criteria, and contact information for participation. Individuals interested in volunteering for a study can reach out to the respective research centers and investigators to learn more about their ongoing projects.
- Find research studies on ClinicalTrials.gov:
1. Study on the effects of exercise in improving muscle functioning in patients with myotonic dystrophy.
2. Clinical trial investigating a new drug for managing symptoms in individuals with myotonic dystrophy type 1.
3. Longitudinal study tracking the progression of myotonic dystrophy and its impact on daily life activities.
These are just a few examples of the research studies being conducted to advance our understanding of myotonic dystrophy and improve treatment options for individuals affected by this condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is an invaluable resource for understanding the genetic basis of various diseases and conditions. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic inheritance of human traits, including diseases.
OMIM catalogs genes that are associated with different diseases and conditions, including myotonic dystrophy. These genes play a crucial role in the functioning of muscles and can affect various aspects of an individual’s health and well-being.
For each gene, OMIM provides detailed information about its clinical significance, inheritance patterns, and associated diseases. It also includes scientific references, genereviewsr articles, and additional resources for further research and genetic testing.
OMIM provides a wealth of information about myotonic dystrophy, including the common symptoms of the condition, its genetic causes, and inheritance patterns. It also provides information about ongoing clinical trials, advocacy and support resources, and genetic testing centers where individuals can learn more about this rare genetic condition.
Researchers and clinicians can use OMIM to stay updated on the latest research findings, clinical studies, and genetic advancements related to myotonic dystrophy and other muscular dystrophies. This can help in better understanding the condition and developing effective treatment strategies.
By providing a comprehensive catalog of genes and diseases, OMIM serves as a valuable resource for scientists, healthcare professionals, and patients who are seeking information about genetic conditions and their underlying genetic causes. Its user-friendly interface and easy access to scientific literature make it an essential tool for anyone interested in genetics and genomics.
References
- Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993–2021.
- Ranum LPW. Myotonic Dystrophy Type 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2000.
- OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org/
- ClinicalTrials.gov. Available from: https://clinicaltrials.gov/
- Myotonic Dystrophy Support and Resources. Available from: https://www.everydayhealth.com/muscular-dystrophy/myotonic-dystrophy/support-resources/
Scientific Articles on PubMed
PubMed is a database that provides access to a vast collection of scientific articles related to various medical topics. In relation to myotonic dystrophy, this resource offers a wide range of information for researchers, healthcare practitioners, patients, and their families. Here, you can find more details about the condition, its genetic causes, associated symptoms, diagnosis, treatment options, and ongoing research studies.
By searching for “myotonic dystrophy” on PubMed, you can learn about the latest scientific advancements in the field. Additionally, you can explore studies that focus on specific aspects of the condition, such as its impact on muscle functioning, genetic inheritance patterns, and common associated diseases.
PubMed also provides references to other valuable resources, including clinicaltrialsgov, OMIM (Online Mendelian Inheritance in Man), GeneReviews®, and catalog entries in the Genomic Advocacy Research Center (GenereviewsR). These resources offer additional information about myotonic dystrophy and related diseases.
Each article on PubMed is written by experts in the field, ensuring the scientific validity of the information provided. This makes PubMed a reliable source for both clinicians and patients who are seeking up-to-date and evidence-based information about myotonic dystrophy.
If you want to learn more about myotonic dystrophy, its genetic causes, or the current research studies being conducted, PubMed can provide you with an extensive collection of scientific articles. Make use of the search function on the PubMed website to explore the available research and educational materials.
References
- For more information on myotonic dystrophy, visit the Genetic and Rare Diseases Information Center (GARD) website at https://rarediseases.info.nih.gov/diseases/6328/myotonic-dystrophy.
- Learn about the types of myotonic dystrophy and the genes associated with their inheritance on the GeneReviews website at https://www.ncbi.nlm.nih.gov/books/NBK1165/.
- Ranum LPW, Day JW. Myotonic dystrophy: Clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Opin Neurol. 2002;15(5):527-532. doi:10.1097/00019052-200210000-00003.
- Find support, resources, and information about myotonic dystrophy from the Myotonic Dystrophy Foundation at https://www.myotonic.org/.
- Pagon RA, Adam MP, Ardinger HH, et al., editors. Myotonic Dystrophy Type 1. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1165/.
- Search for scientific articles on myotonic dystrophy on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Find information on research studies and clinical trials related to myotonic dystrophy on ClinicalTrials.gov at https://clinicaltrials.gov/.
- OMIM entry for myotonic dystrophy: https://omim.org/entry/160900.