Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition where muscles primarily in the eyelids (ptosis) and throat (pharyngeal) impair with time. It is an autosomal dominantly inherited disease caused by the expansion of a trinucleotide repeat of the polyalanine gene (PABPN1). OPMD affects a small population of people around the world.

This article provides information about OPMD, its causes, and additional resources for patients and advocacy groups. ClinicalTrials.gov and PubMed are common resources for finding scientific studies and clinical trials related to OPMD. The OMIM database is another useful resource for gathering information on genes and inherited diseases, including OPMD.

Research on OPMD is ongoing, and ongoing clinical trials are studying potential treatments and therapies for this condition. Patients can learn more about these studies and get involved in research by visiting the OPMD center or contacting advocacy groups that support OPMD patients.

Genetic testing can help confirm a diagnosis of OPMD and determine the specific mutations causing the condition. It is important for patients and their families to understand the inheritance pattern and genetic causes of OPMD, as this can help guide treatment decisions and support options.

This article aims to provide a comprehensive overview of OPMD and act as a helpful starting point for individuals searching for information on this rare muscular dystrophy. It also emphasizes the importance of advocacy and support for those affected by OPMD, as well as the need for further research to better understand and treat this condition.

Frequency

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition that causes muscle weakness and impairment within the muscles of the eyes, throat, and other muscles in the body. The condition is caused by mutations in the polyalanine-encoding region of the PABPN1 gene.

OPMD is a rare condition, with estimates suggesting that it affects approximately 1 in 100,000 people worldwide. However, the frequency of OPMD can vary among different populations and ethnic groups.

Additional information about the frequency of OPMD can be found in scientific articles and resources such as the OMIM catalog, PubMed, and clinicaltrials.gov.

Research studies and clinical trials have been conducted to learn more about the genetic causes and underlying mechanisms of OPMD. These studies provide valuable information for healthcare professionals and researchers to better understand the condition and develop potential treatments.

Genetic testing can be performed to confirm a diagnosis of OPMD for patients who have symptoms characteristic of the condition, such as ptosis (drooping eyelids) and muscle weakness. Testing can also be useful for individuals with a family history of OPMD or for genetic counseling purposes.

Support and advocacy organizations such as the Oculopharyngeal Muscular Dystrophy Center provide resources and information for patients and their families facing the challenges of living with OPMD. The center offers support services, educational materials, and access to the latest research and clinical trials.

For more information about the frequency of OPMD and other related genetic diseases, interested individuals can visit the Oculopharyngeal Muscular Dystrophy Center’s website and refer to the references and resources provided.

Causes

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic muscular dystrophy inherited in an autosomal dominant manner. This means that a person with OPMD has a 50% chance of passing the condition on to each of their children.

The genetic cause of OPMD is a series of mutations within the PABPN1 gene, which provides instructions for making a protein called polyadenylate-binding protein nuclear 1. The PABPN1 gene is located on chromosome 14.

Most cases of OPMD are caused by an expansion of a specific DNA segment within the PABPN1 gene, which leads to the production of an abnormally long polyalanine tract in the protein. This expansion is characterized by a specific number of alanine repeats and is typically between 12 and 18 repeats long. However, in some cases, OPMD can also be caused by other mutations within the PABPN1 gene.

Although the exact mechanism is not fully understood, the polyalanine expansion in the PABPN1 protein is thought to impair the normal function of muscle cells, leading to the muscle weakness and atrophy observed in individuals with OPMD.

OPMD is more common in certain populations, particularly those of French-Canadian, Hispanic, and Danish descent. The frequency of OPMD in these populations is estimated to be 1 in 1,000 to 1 in 10,000 individuals. However, OPMD can occur in people from any ethnic background.

Genetic testing can be done to confirm a diagnosis of OPMD. The genetic test looks for the specific mutations in the PABPN1 gene associated with OPMD. This testing can be done at specialized genetic testing centers.

For more information on the causes of OPMD, there are several resources available. The Muscular Dystrophy Association provides information and support for individuals with OPMD and their families. The Genetic and Rare Diseases Information Center and OMIM (Online Mendelian Inheritance in Man) are additional resources that provide detailed information on the genetics and inheritance of OPMD.

References:

  1. Genetic and Rare Diseases Information Center. Oculopharyngeal Muscular Dystrophy.
  2. OMIM. Oculopharyngeal Muscular Dystrophy; OPMD.
  3. Muscular Dystrophy Association. Oculopharyngeal Muscular Dystrophy (OPMD).
  4. ClinicalTrials.gov. Oculopharyngeal Muscular Dystrophy.
  5. PubMed. Search results for oculopharyngeal muscular dystrophy.
  6. Muscular Dystrophy Association. About Muscular Dystrophy.
  7. Muscular Dystrophy Association. What Causes Oculopharyngeal Muscular Dystrophy (OPMD)?

Learn more about the gene associated with Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition that primarily affects the muscles in the eyes (ptosis) and throat (pharyngeal muscles). It is characterized by weakness and progressive degeneration of these muscles, which can lead to difficulty swallowing (dysphagia) and other complications.

The gene associated with OPMD is called the polyalanine repeat expansion within the PABPN1 gene. This gene provides instructions for making a protein called polyadenylate-binding nuclear protein 1 (PABPN1). In people with OPMD, a specific section of the PABPN1 gene contains a series of repeating segments of the DNA building block alanine. These repeated alanine segments are known as polyalanines, and the expansion of these repeats is thought to be the underlying cause of OPMD.

The inheritance pattern of OPMD is autosomal dominant, which means that an affected person has a 50% chance of passing the condition on to each of their children.

For more information about OPMD, including its frequency within the population and additional resources for support and advocacy, you can visit the following websites:

  • OMIM: OMIM is a comprehensive catalog of human genes, genetic diseases, and genetic variations. It provides detailed information about OPMD, including its symptoms, genetic cause, and inheritance pattern.
  • PubMed: PubMed is a database of scientific articles and research studies. You can find articles on OPMD and related topics by searching for keywords such as “oculopharyngeal muscular dystrophy” or “PABPN1 gene.”
  • Genetic Testing: If you or someone you know has been diagnosed with OPMD and is interested in genetic testing, you can speak with a healthcare professional or genetic counselor for more information. They can help determine if genetic testing is appropriate and provide guidance on the available testing options.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are investigating new treatments and interventions for various conditions, including OPMD. You can search for ongoing or upcoming clinical trials for OPMD on this website.

Inheritance

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant genetic disorder. This means that a person with only one copy of the abnormal gene is affected by the condition. In most cases, the affected gene is inherited from a parent who also has the condition. However, some cases can occur sporadically, without a family history of the disorder.

The OPMD gene is located on chromosome 14 and contains a repetitive DNA sequence that encodes for a protein called polyalanine. The name “oculopharyngeal” comes from the main symptoms of the condition, which include ptosis (drooping of the eyelids) and difficulty swallowing due to weakness in the pharyngeal muscles.

OPMD is most commonly caused by a mutation in the PABPN1 gene, which leads to the expansion of a region of the gene where the polyalanine sequence is located. This expansion results in the production of a longer polyalanine protein, which is believed to impair the normal function of the affected muscles.

The PABPN1 gene mutation is rare in the general population, but it has been found to be more common in certain ethnic groups, such as French-Canadian, Hispanic, and Jewish populations. The frequency of the mutation within these populations varies, with higher frequencies reported in specific regions.

Genetic testing can be done to confirm a diagnosis of OPMD and to identify the specific genetic mutation responsible for the condition. Testing can also be offered to individuals without symptoms who have a family history of the disorder to determine if they carry the abnormal gene.

Several scientific studies and clinical trials have been conducted to learn more about the genetic causes of OPMD and to develop potential treatments for the condition. Researchers have identified additional genes that may also be involved in the development of OPMD, and studies are ongoing to investigate their role in the disease.

For more information about OPMD and genetic testing, the following resources can be helpful:

  • OMIM – An online catalog of human genes and genetic disorders, including OPMD.
  • ClinicalTrials.gov – A registry and results database of publicly and privately supported clinical studies involving human participants.
  • PubMed – A database of scientific articles and research studies.
  • Ocular Center – A center dedicated to the research, education, and support of individuals with oculopharyngeal diseases.
  • Genetic Advocacy Center – An organization that provides information and support to people affected by genetic conditions.
See Also:  MT-ND4 gene

These resources can provide additional information about OPMD, including the latest research findings, clinical trials, patient support groups, and genetic counseling services.

Other Names for This Condition

Oculopharyngeal muscular dystrophy (OPMD) is also known by the following names:

  • OPMD
  • OPMD1
  • OPMD2
  • Muscular dystrophy, oculopharyngeal, familial
  • Muscular dystrophy, oculopharyngeal, French-Canadian type
  • OPMD, French-Canadian type
  • Muscular dystrophy, oculopharyngeal, Indiana type
  • OPMD, Indiana type

These alternate names reflect the different subtypes and variations of the condition. They are used interchangeably in scientific literature, research studies, and medical resources.

OPMD is a rare genetic condition that primarily affects the muscles of the eyes (causing ptosis) and throat (impairing swallowing). It is caused by mutations in the polyalanine expansion of the PABPN1 gene. The condition is most commonly found in populations of French-Canadian and Spanish descent, but cases have been reported in various ethnic groups worldwide.

To learn more about the causes, inheritance patterns, and frequency of OPMD within different populations, additional information can be found on websites such as OMIM (Online Mendelian Inheritance in Man), ClinicalTrials.gov, and PubMed.

References:

  1. Genetics Home Reference. Oculopharyngeal Muscular Dystrophy. Retrieved from: https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy
  2. National Center for Advancing Translational Sciences (NCATS). Oculopharyngeal Dystrophy. Retrieved from: https://rarediseases.info.nih.gov/diseases/5751/oculopharyngeal-dystrophy
  3. Genetic and Rare Diseases Information Center (GARD). Oculopharyngeal muscular dystrophy. Retrieved from: https://rarediseases.info.nih.gov/diseases/5751/oculopharyngeal-dystrophy

Additional Information Resources

Patients and their families may find the following resources helpful for additional information and support related to oculopharyngeal muscular dystrophy (OPMD).

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, including OPMD. The database includes information about the gene associated with OPMD, its inheritance pattern, and clinical features of the condition. Visit the OMIM website to learn more: www.omim.org.
  • PubMed: PubMed is a database of scientific articles that provides access to a wealth of information on research studies and clinical trials related to OPMD. Visit PubMed to access articles about OPMD and its associated genes, mutations, and causes: www.pubmed.ncbi.nlm.nih.gov.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases, including OPMD. Their website offers resources on various aspects of the condition, including symptoms, inheritance, and testing. Visit the GARD website for more information: rarediseases.info.nih.gov.
  • The Muscular Dystrophy Association (MDA): MDA is an advocacy organization that supports individuals and families affected by muscular dystrophy. Their website offers information on OPMD, including causes, symptoms, and available resources. Learn more about OPMD and MDA’s support programs on their website: www.mda.org.

In addition to these resources, there are scientific articles, research studies, and genetic testing centers that specialize in OPMD. Patients and their families are encouraged to consult with healthcare professionals and genetic counselors for more personalized information and guidance.

Genetic Testing Information

If you have been diagnosed with Oculopharyngeal Muscular Dystrophy (OPMD) or if you suspect that you have the condition, it is recommended to undergo genetic testing for confirmation and to learn more about the underlying genetic causes of the disease. Genetic testing is a valuable tool that can provide important information about the presence of specific gene mutations associated with OPMD.

Genetic testing for OPMD can be conducted through specialized laboratories and clinics that offer genetic testing services. These tests involve analyzing an individual’s DNA to identify any mutations or abnormalities in the genes associated with OPMD. Some of the genes commonly tested for OPMD include PABPN1 and other genes that have been linked to muscle function and degeneration.

There are different types of genetic tests available for OPMD, including DNA sequencing and mutation analysis. DNA sequencing helps identify changes in the genetic code, while mutation analysis detects specific mutations known to cause OPMD. These tests can help determine the inheritance pattern and provide diagnostic confirmation for individuals who exhibit symptoms associated with OPMD.

What to Expect during Genetic Testing

Genetic testing usually involves providing a blood or saliva sample. The sample is then sent to a specialized laboratory for analysis. The laboratory will analyze the sample and generate a report that provides information on the presence or absence of specific gene mutations associated with OPMD.

It is important to note that genetic testing for OPMD is not widely available, and individuals may need to consult with a specialized genetic center or healthcare professional to access these services. Additionally, genetic counseling from a healthcare professional with expertise in genetic disorders can be beneficial to discuss the implications of genetic testing and the potential impact on individuals and their families.

Additional Resources and Support

If you are interested in learning more about genetic testing for OPMD, the following resources may be helpful:

  • National Institutes of Health (NIH) – The NIH provides information on genetic testing, resources for research studies, and scientific references related to OPMD. Visit their website to access valuable information on OPMD and other rare diseases.
  • Pubmed – This online database provides access to numerous scientific articles and research studies on OPMD. You can search for specific articles about genetic testing, causes of OPMD, and other related topics.
  • OMIM – OMIM is a comprehensive online catalog that provides detailed information on genetic diseases, including OPMD. You can find information on inheritance patterns, gene mutations, and clinical presentations of OPMD on the OMIM database.
  • Support Organizations and Advocacy Groups – There are several organizations and advocacy groups dedicated to supporting individuals with muscular dystrophy and their families. These organizations can provide additional information, resources, and support for individuals with OPMD.

Remember that each individual’s experience with OPMD may vary, and it is important to consult with healthcare professionals and genetic specialists for personalized advice and guidance.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides resources and information about rare genetic diseases to the public, healthcare professionals, and researchers. GARD is a centralized resource that aims to increase awareness and understanding of these conditions, as well as provide support and advocacy for those affected.

GARD offers a wide range of information on various genetic diseases, including Oculopharyngeal Muscular Dystrophy (OPMD). This rare condition, also known as OPMD, is characterized by the progressive weakness of the muscles within the eyes (ptosis) and the throat (dysphagia).

OPMD is caused by mutations in the polyalanine genes, specifically in a gene called PABPN1. These gene mutations lead to the production of abnormal proteins, which impair the normal functioning of the muscles.

The frequency of OPMD varies among different populations, but it is considered a rare condition. GARD provides more information about the epidemiology and inheritance of OPMD, as well as resources for genetic testing and clinical trials.

Within the GARD website, you can find articles, patient resources, scientific studies, and references about OPMD and other rare genetic diseases. GARD also offers a catalog of available genetic tests that can help diagnose these conditions.

In addition to the GARD website, there are other resources available for learning about OPMD. PubMed, for example, is a scientific database that contains a wealth of information on various genetic diseases, including OPMD.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for finding information on genetic diseases. OMIM provides detailed descriptions of the genes and mutations associated with OPMD, as well as references to relevant scientific articles and clinical trials.

If you or someone you know has OPMD, it’s important to seek medical advice and support from healthcare professionals who specialize in genetic diseases. Genetic testing may also be recommended to help confirm the diagnosis and guide treatment options.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by OPMD and other rare genetic diseases. GARD provides information, support, and advocacy to improve the lives of people living with these conditions.

Patient Support and Advocacy Resources

If you or someone you know is affected by Oculopharyngeal muscular dystrophy (OPMD), various resources are available to provide support and advocacy. These resources aim to help patients and their families navigate the challenges associated with the condition and offer assistance in managing the symptoms and improving the quality of life.

Here are some patient support and advocacy resources you can explore:

  • Oculopharyngeal Muscular Dystrophy Information Center: This center provides comprehensive information about OPMD, including causes, symptoms, inheritance patterns, and treatment options. It also offers additional articles, references, and clinical trials.
  • Patient Organizations: There are several patient organizations dedicated to supporting individuals with OPMD and their families. These organizations provide resources such as information on genetic testing, treatment options, and research updates. They also offer support networks and can connect you with others who have experience with the condition.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of OPMD and identify the specific gene mutations associated with the condition. This information can be valuable in understanding the progression of the disease and informing treatment options. Genetic counselors can provide guidance on testing options, interpretation of results, and inheritance patterns.
  • Scientific Articles and Publications: Numerous scientific articles are available in reputable journals and databases such as PubMed, OMIM, and ClinicalTrials.gov. These articles provide in-depth information about the genetic causes, clinical features, and management strategies of OPMD. They can help you learn more about the condition and stay updated on the latest research advancements.
  • Advocacy Groups: Advocacy groups play a crucial role in raising awareness about OPMD, mobilizing support, and advocating for research funding. These groups often collaborate with researchers, healthcare professionals, and policy-makers to push for improved care and treatment options for individuals with OPMD.
  • Rare Diseases Information Center: Oculopharyngeal muscular dystrophy is a rare disease. The Rare Diseases Information Center provides resources and support specifically tailored to rare diseases. They offer information about available treatments, research studies, and other helpful resources.
See Also:  Tay-Sachs disease

These resources can provide valuable guidance, support, and empowerment for individuals living with OPMD and their families. Whether you are seeking information, medical advice, emotional support, or opportunities for participation in research studies, these patient support and advocacy resources can help you navigate the journey of managing Oculopharyngeal muscular dystrophy.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is the largest publicly available database of clinical studies being conducted around the world. It provides valuable information on ongoing and completed research studies related to various medical conditions, including oculopharyngeal muscular dystrophy (OPMD).

OPMD is a rare genetic disorder characterized by progressive muscle weakness, particularly in the muscles of the eyes, face, and throat. It is caused by mutations in the polyalanine repeat encoding region of the PABPN1 gene. These mutations result in the accumulation of abnormal proteins, leading to muscle cell impairment.

Research studies listed on ClinicalTrials.gov aim to advance our understanding of OPMD and develop better treatment options for affected individuals. They are conducted by various research centers and organizations, both within and outside the United States. Some of the research studies currently ongoing or recently completed include:

  • Study Title: Efficacy of a Novel Therapeutic Compound in OPMD Patients
  • Study Center: Center for Oculopharyngeal Muscular Dystrophy Research
  • Status: Recruiting
  • Description: This clinical trial aims to evaluate the efficacy and safety of a novel therapeutic compound in patients with OPMD. The study will assess various outcome measures, including muscle strength, swallowing ability, and quality of life.
  • Study Title: Genetic Testing in OPMD Patients
  • Study Center: National Institute of Neurological Disorders and Stroke
  • Status: Completed
  • Description: This study aimed to identify the frequency of PABPN1 gene mutations in a population of OPMD patients. The results of this study will contribute to our understanding of the genetic causes of OPMD and may have implications for genetic testing and counseling.

These are just a few examples of the research studies that are currently being conducted or have been completed on OPMD. More information on these studies, as well as additional resources and advocacy organizations, can be found on ClinicalTrials.gov.

For people affected by OPMD, it is important to stay informed about the latest research advancements and treatment options. Online resources like PubMed, OMIM, and the OPMD advocacy organizations can provide valuable information and support.

By participating in clinical trials and staying connected with the scientific community, individuals with OPMD can contribute to the advancement of research and improve the lives of people living with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Research on oculopharyngeal muscular dystrophy (OPMD) has identified several genes that are associated with the condition. The main gene implicated in OPMD is the Poly(A)-binding protein nuclear 1 (PABPN1) gene.

Patients with OPMD experience weakness in their muscles, particularly those that control eye movement and swallowing. This leads to symptoms such as ptosis (drooping of the eyelids) and difficulty in swallowing.

The causes of OPMD can vary, but in most cases, it is caused by expansion of a DNA segment called polyalanine within the PABPN1 gene. This expansion leads to the formation of abnormal protein aggregates in the muscles, which impair their function.

The National Institutes of Health (NIH) has established the Oculopharyngeal Muscular Dystrophy Research Center to support studies on this rare genetic condition. The center conducts clinical trials to test new treatments and gather more information about the causes and symptoms of OPMD.

OPMD is just one of many rare diseases listed in the Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive resource for genetic information, providing detailed descriptions of genetic disorders, associated genes, and inheritance patterns.

Within the Catalog, you can find information on various diseases, including OPMD, along with the names of associated genes and scientific references. The frequency of these diseases within the population and additional resources for support and advocacy can also be found in the Catalog.

If you are interested in learning more about OPMD or other rare genetic conditions, the OMIM website is a valuable source of information. Additionally, PubMed and clinicaltrialsgov are other resources where you can find scientific articles and information about ongoing studies and testing for these conditions.

Scientific Articles on PubMed

  • Alanines: This article explores the role of alanines in the development of oculopharyngeal muscular dystrophy (OPMD) and its associated symptoms.
  • Patient: Learn about the experiences of patients living with OPMD and the challenges they face due to this condition.
  • Inheritance: Understand the inheritance patterns of OPMD and how these genetic mutations pass from generation to generation.
  • Muscles: Explore the specific muscles that are affected by OPMD and how this impacts the daily lives of individuals with the condition.
  • PTosis: Learn about the common symptom of ptosis in OPMD and its implications for the affected individuals.
  • Genetic mutations: This article provides more information on the specific gene mutations associated with OPMD and their effects on muscle function.
  • Frequency: Discover the rare frequency of OPMD within the general population and the implications this has for research and resources.
  • OMIM: Find additional information on OPMD in the OMIM (Online Mendelian Inheritance in Man) catalog, which compiles genetic and clinical information on inherited diseases.
  • Research: This article discusses the latest research findings on OPMD and potential treatment options.
  • Advocacy: Learn about advocacy groups and resources available to support individuals and families affected by OPMD.
  • ClinicalTrials.gov: Find out where to access information on clinical trials related to OPMD.
  • Support: Discover the various sources of support available for individuals with OPMD and their caregivers.
  • OMIM: This article provides more information on OPMD in the OMIM (Online Mendelian Inheritance in Man) catalog, which compiles genetic and clinical information on inherited diseases.
  • Genes: Learn about the specific genes associated with OPMD and their role in the development of this condition.
  • Causes: Explore the causes of OPMD and the underlying mechanisms that lead to the development of this condition.
  • Testing: Understand the different types of genetic testing available for OPMD and where to access these resources.
  • Center: Discover specialized centers and clinics that provide comprehensive care for individuals with OPMD.
  • Articles: Access a collection of scientific articles on OPMD from the PubMed database, which contains a wealth of information on this condition and related topics.
  • References: Find a list of references for further reading on OPMD and related research studies.

References

  1. OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genetic diseases. Oculopharyngeal muscular dystrophy (OPMD) is listed in OMIM with the OMIM ID 164300. Access the article on OPMD at: https://www.omim.org/entry/164300.

  2. PubMed: A database of scientific articles. Searching for “oculopharyngeal muscular dystrophy” on PubMed retrieves numerous articles discussing the genetic causes, clinical features, and management of OPMD. Access the search results at: https://pubmed.ncbi.nlm.nih.gov/?term=oculopharyngeal+muscular+dystrophy.

  3. ClinicalTrials.gov: A registry of clinical trials. This website provides information on ongoing and completed clinical trials related to OPMD. Access the available clinical trials for OPMD at: https://clinicaltrials.gov/ct2/results?cond=oculopharyngeal+muscular+dystrophy.

  4. Genetic and Rare Diseases Information Center (GARD): A resource that provides reliable information about genetic and rare diseases. GARD has a detailed article on oculopharyngeal muscular dystrophy, including information on its frequency, inheritance, causes, and symptoms. Access the article on OPMD at: https://rarediseases.info.nih.gov/diseases/6084/oculopharyngeal-muscular-dystrophy.

  5. Muscular Dystrophy Association (MDA): An advocacy and support center for people with muscular dystrophy. MDA provides resources and information on OPMD, including articles, studies, and support groups for patients and families affected by the condition. Learn more about OPMD at: https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy.

  6. Scientific articles and research studies: Numerous scientific articles and research studies have been published on oculopharyngeal muscular dystrophy. These articles provide detailed information on the genetics, causes, clinical features, and management of OPMD. Some notable articles and studies include:

RECOMMENDED