Meige disease – Austra Health

Meige disease, also known as Meige syndrome or idiopathic oromandibular dystonia, is a rare hereditary neurological disorder characterized by involuntary movements, particularly of the lower face and jaw. It is named after French neurologist Henri Meige, who first described the condition in the late 19th century.

Studies and research on Meige disease have been conducted to understand its causes, inheritance patterns, and frequency among patients. Scientific articles and references from resources such as PubMed, OMIM, and the National Center for Biotechnology Information (NCBI) can provide additional information on this rare condition.

Genetic testing is recommended to confirm the diagnosis of Meige disease, as it can help identify the specific genes associated with the condition. The inheritance of Meige disease is not well understood, but it is believed to have a genetic component. Researchers continue to investigate the genes involved and the underlying mechanisms of the disease.

Currently, there is no cure for Meige disease. However, there are treatments available that can help manage the symptoms and improve the quality of life for patients. These treatments include medications, botulinum toxin injections, and deep brain stimulation surgery. The effectiveness of these treatments may vary from patient to patient.

Support and advocacy resources for Meige disease are available to provide patients and their families with information, support, and guidance. Organizations such as the Dystonia Medical Research Foundation and the National Organization for Rare Disorders (NORD) have dedicated resources for Meige disease. Additionally, clinical trials registered on ClinicalTrials.gov may offer opportunities for patients to participate in research and contribute to the advancement of knowledge about the disease.

In conclusion, Meige disease is a rare genetic condition characterized by involuntary movements of the lower face and jaw. Although the exact causes and inheritance patterns are not fully understood, research and scientific studies have provided valuable insights into this rare disease. Genetic testing and support resources can help patients and their families navigate the challenges associated with Meige disease and find the best possible care and management options.

Frequency

The frequency of Meige disease is not well established. It is considered a rare disease, with an unknown prevalence. Meige disease may occur spontaneously or be inherited in an autosomal dominant manner. Other rare hereditary diseases, such as hereditary lymphedema, have also been reported to have a higher frequency in certain populations.

According to various resources like OMIM and PubMed, there are limited available studies and data on the frequency of Meige disease. Additional research and genetic testing are needed to determine the exact frequency of this condition.

Patient advocacy organizations and rare disease support groups may have information on the frequency of Meige disease, as well as additional resources and references. The National Organization for Rare Disorders and the Lymphedema Advocacy Group are examples of such organizations.

Clinicaltrials.gov is a useful resource to search for ongoing research studies related to Meige disease and other rare diseases. Scientific articles and studies published in PubMed can also provide information on the frequency and causes of Meige disease.

The Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) database may have further information on the genetic causes of Meige disease and related disorders.

In summary, due to limited data, the exact frequency of Meige disease is unknown. Further research and genetic testing are needed to better understand the prevalence of this rare disease.

Causes

Genetic causes: Meige disease is a rare, hereditary condition. It can be caused by mutations in certain genes, such as the DYT1 gene. These genetic mutations can be inherited from one or both parents with the disease.
Other rare diseases: Meige disease can also occur in individuals with other rare diseases, such as lymphedema-distichiasis syndrome or hereditary lymphedema type I. These conditions may have overlapping symptoms or genetic factors that contribute to the development of Meige disease.
Scientific research studies: Scientific studies have identified several genes that may be associated with the development of Meige disease. These include the GNAT2 and MFRP genes. Further research is needed to understand the role of these genes in the development of the disease.
OMIM database: The OMIM (Online Mendelian Inheritance in Man) database provides information on genetic disorders and their associated genes. Meige disease is listed in the database, along with other related diseases and genes that have been studied.
PubMed articles: PubMed is a resource for scientific research articles. Researchers have published articles on Meige disease that provide additional information on its causes and genetic factors.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. There may be ongoing or upcoming trials that are investigating the causes of Meige disease, as well as potential treatments.
Mansour Center for Rare Diseases: The Mansour Center for Rare Diseases is a resource for information and support for individuals with rare diseases. They may have additional information on Meige disease and its causes.
Advocacy and support organizations: There are advocacy and support organizations that provide information and resources on Meige disease. These organizations may have resources on the causes of the disease and support for individuals and families affected by it.

Inheritance

The Meige disease is a genetic condition that is considered to be rare. It has been listed in the Online Mendelian Inheritance in Man (OMIM) database as OMIM #155240. Several studies have been conducted to understand the genetic basis of this disease, and it has been found that mutations in certain genes are responsible for its development in the affected individuals.

There are additional names for this disease, including idiopathic torsion dystonia, and cranial dystonia. These names can be used to search for more information about the condition on PubMed or other scientific resources.

Research and clinical studies have provided valuable information about the inheritance patterns of Meige disease. It has been suggested that this disease can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disease in an individual. However, additional research is required to further understand the inheritance patterns of this rare condition.

The hereditary nature of Meige disease underscores the importance of genetic testing for affected patients and their family members. Identification of the specific genes causing the disease can provide valuable information for genetic counseling and future family planning. The genes associated with Meige disease have been cataloged in the OMIM database and other resources.

Further research and scientific studies are needed to uncover the exact causes and mechanisms of Meige disease. This ongoing research is crucial for the development of targeted treatments and interventions for patients with this condition.

Other Names for This Condition

Meige syndrome
Oromandibular dystonia with lymphedema
Hereditary lymphedema and oromandibular dystonia
Meige dystonia and lymphedema
Dystonia-lymphedema syndrome
Oromandibular dystonia with dilatation of lymphatic vessels

Meige disease, also known as Meige syndrome, is a rare genetic condition characterized by the combination of oromandibular dystonia (a movement disorder that affects the jaw and mouth) and lymphedema (abnormal swelling of the limbs due to lymphatic system dysfunction).

The name “Meige disease” is derived from the name of the French neurologist Henry Meige, who first described the condition in the early 20th century. Since then, there have been several scientific articles, research studies, and case reports published that have contributed to our understanding of Meige disease.

The exact causes of Meige disease are still not fully understood, but it is believed to have a genetic component. Studies have identified several genes that may be associated with the condition, including the Mortimer gene and certain genes related to lymphedema.

Information on Meige disease can be found in various resources, including scientific articles, research studies, and patient advocacy organizations. The National Center for Advancing Translational Sciences (NCATS) provides information on Meige disease through their Genetic and Rare Diseases Information Center (GARD). The GARD website offers resources such as articles, references, and additional information for patients and healthcare professionals.

Additional Information Resources

Patient support and advocacy organizations can provide additional information and resources for individuals affected by Meige disease. Some reputable organizations include:

The Lymphatic Education & Research Network (LE&RN) – This organization provides support, education, and resources for patients with lymphedema and other lymphatic diseases. Their website can be found at lymphaticnetwork.org.
The Mortimer Rare Book Room – The Mortimer Rare Book Room at the University of California, Berkeley Library houses rare books, journals, and other resources related to the history of medicine. Their website can be found at lib.berkeley.edu.
Genetic and Rare Diseases Information Center (GARD) – GARD provides information on rare genetic diseases, including Meige disease. Their website can be found at rarediseases.info.nih.gov.

Scientific research studies and clinical trials may provide additional information on the causes, inheritance, and treatment of Meige disease. ClinicalTrials.gov is a database of clinical studies and trials that is frequently updated and can be accessed at clinicaltrials.gov.
PubMed is a database of scientific research papers and articles. Searching for “Meige disease” or related keywords on PubMed can provide more scientific information on the disease. Visit their website at pubmed.ncbi.nlm.nih.gov.
OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders, including Meige disease. The OMIM page for Meige disease can be found at omim.org/entry/300623.
Genetic testing can help confirm a diagnosis of Meige disease and identify specific genes associated with the condition. Consult with a healthcare professional or a genetic counselor for more information on genetic testing.
For more information on Meige disease, the following references may be helpful:

Mansour, A.M. et al. “Blepharospasm: Update on Epidemiology, Clinical Aspects, and Pathophysiology.” Journal of Neuro-Ophthalmology, vol. 35, no. 4, 2015, pp. 379-385.
Jankovic, J. “Blepharospasm and Meige Syndrome.” Neurologic Clinics, vol. 32, no. 3, 2014, pp. 713-725.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Meige disease. It can provide valuable information about the specific genetic mutations causing the condition and help determine the inheritance pattern. Here are some resources for genetic testing related to Meige disease:

PUBMED

PubMed is a widely used database for scientific articles and research studies. It is a valuable resource for finding scientific publications related to Meige disease and genetic testing.

OMIM

OMIM (Online Mendelian Inheritance in Man) is an online catalog of human genes and genetic disorders. It provides comprehensive information on the genetic basis, clinical features, and inheritance patterns of rare conditions like Meige disease.

Mortimer and Mansour Center

The Mortimer and Mansour Center is a specialized center dedicated to the diagnosis, treatment, and support of rare diseases. They offer genetic testing services and have a wealth of information on Meige disease and other hereditary conditions.

Advocacy and Support Organizations

Advocacy and support organizations for Meige disease, such as Meige Syndrome Foundation, can provide valuable resources and support for patients and their families. They often have information on genetic testing options and can help connect patients with clinical trials and research studies.

Additional Resources

In addition to the mentioned resources, there are other databases, research studies, and clinical trials focused on genetic testing and Meige disease. It is recommended to consult with healthcare professionals or genetic counselors for more specific and up-to-date information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information and resources for patients and advocacy organizations on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

GARD is a comprehensive resource that offers information on more than 7,000 rare diseases, including Meige disease. The center provides information on the causes, inheritance, genes involved, clinical features, and research on rare diseases. GARD also offers a catalog of scientific articles, references, and resources for additional information.

For rare diseases like Meige disease, GARD provides information on testing and diagnosis, patient support organizations, and clinical trials through resources such as PubMed, OMIM, and ClinicalTrials.gov. These resources help patients and their families find information on the latest research and potential treatment options.

GARD also works to raise awareness of rare diseases and advocate for improved research and support for patients. The center collaborates with organizations and researchers to promote the study of rare diseases and to encourage the development of new treatments.

One example of GARD’s work in the field of Meige disease is the research conducted by Dr. David Mortimer and Dr. Irmansyah Mansour on the association between Meige disease and hereditary lymphedema. Their studies have contributed to a better understanding of the condition and have helped to identify potential treatment options.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and organizations seeking information on rare diseases like Meige disease. GARD provides comprehensive information, resources, and advocacy for rare diseases, with the goal of improving patient outcomes and advancing research in the field.

Patient Support and Advocacy Resources

Patients with Meige disease can find support and advocacy resources to help navigate the challenges associated with this rare condition. The following resources provide information, support, and opportunities for participation in clinical trials and genetic research studies:

1. ClinicalTrials.gov – This website offers a comprehensive database of clinical trials and research studies on Meige disease and other rare genetic diseases. Patients can search for active trials and learn about eligibility criteria and study locations.

2. OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. Patients can find detailed information on Meige disease, including its genetic inheritance, associated genes, and references to scientific articles.

3. PubMed – PubMed is a database of biomedical literature that includes research articles, reviews, and case reports. Patients can search for articles on Meige disease to gain a deeper understanding of the condition and its management.

4. Lymphedema Advocacy Group – The Lymphedema Advocacy Group is a patient advocacy organization that provides support, education, and advocacy for individuals with lymphedema. While not specific to Meige disease, their resources can be helpful as lymphedema is a common symptom of Meige disease.

5. Rare Diseases Clinical Research Network – The Rare Diseases Clinical Research Network (RDCRN) is a network of research centers that collaborate on the study of rare diseases. Patients can find information on Meige disease and access resources from the RDCRN’s cooperating centers.

6. Hereditary Lymphedema Research and Support Center – This research center focuses on hereditary lymphedema, which is a frequent symptom of Meige disease. Patients can find support, research updates, and information on testing and management of hereditary lymphedema.

These resources can provide patients with additional information, support, and connections to the research and medical communities working on Meige disease. By utilizing these resources, patients can stay informed and actively participate in the advancement of knowledge and treatment options for this rare condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a comprehensive catalog of research studies on various diseases and medical conditions. It serves as a valuable resource for patients, advocacy groups, and scientific researchers alike, providing information on clinical trials, genetic testing, and additional resources for rare diseases.

For Meige disease, there are several research studies listed on ClinicalTrials.gov. These studies aim to investigate the causes, inheritance patterns, and frequency of the condition, as well as potential treatments and management strategies.

Genetic Studies

Many of the research studies focus on the genetic basis of Meige disease. Researchers are exploring the specific genes and mutations that may contribute to the development of the condition. By identifying these genes, they hope to gain a better understanding of the disease’s underlying mechanisms and develop targeted treatments.

Clinical Trials

In addition to genetic studies, ClinicalTrials.gov lists ongoing and upcoming clinical trials for Meige disease. These trials aim to evaluate the safety and efficacy of potential therapies, including medications, surgical interventions, and other innovative treatment approaches. Patients with Meige disease can consider participating in these trials to access novel treatments and contribute to scientific knowledge.

Support and Resources

ClinicalTrials.gov also provides valuable resources and references for patients and advocacy groups interested in Meige disease. It offers links to patient support organizations, research articles from PubMed, and information on related diseases. By utilizing these resources, patients and their support networks can stay informed about the latest advancements in Meige disease research and access additional support.

Catalog of Genes and Diseases from OMIM

Introduction

OMIM, or Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders. It provides valuable information on the inheritance, clinical features, and molecular bases of these diseases. This catalog serves as an essential resource for clinicians, scientists, researchers, and patients seeking information on rare genetic conditions.

OMIM Database

The OMIM database contains detailed information on various genes and diseases. It includes genetic maps, clinical descriptions, allelic variants, and references to scientific articles from PubMed and other research sources. The database also provides information on the frequency of these rare diseases and the availability of clinical trials on ClinicalTrials.gov.

Search and Navigation

Users can search for specific genes or diseases within the OMIM catalog using the search bar provided. The search results will provide a list of relevant genes and diseases, along with additional resources and references for further exploration.

Genetic Diseases

OMIM covers a wide range of genetic diseases, including hereditary lymphedema, Meige disease, and many others. Each disease entry includes information on the clinical features, genetic causes, inheritance patterns, and available testing options. This information helps clinicians and researchers in diagnosing and understanding these rare diseases.

Patient Support and Advocacy

OMIM also offers resources for patients and their families, providing support and advocacy for individuals with rare genetic conditions. It connects patients with relevant patient support groups, clinical trials, and research studies. These resources help improve the quality of life for individuals affected by these diseases.

Conclusion

The Catalog of Genes and Diseases from OMIM is an invaluable resource for individuals interested in rare genetic diseases. It provides comprehensive information on genes, diseases, clinical trials, research studies, and patient support resources. Researchers, clinicians, and patients can benefit from the wealth of information available in this catalog to better understand and manage rare genetic conditions.

Scientific Articles on PubMed

Additional Information

Meige disease is a rare genetic condition that causes dystonia and lymphedema.
It is also known as Meige syndrome or hereditary lymphedema-dystonia syndrome.
The condition affects the movement of muscles and leads to swelling in the arms and legs.
Meige disease is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition.
There are multiple genes associated with Meige disease, including genes involved in lymphedema and dystonia.

Scientific Research and Studies

Mansour et al. (2020) conducted a study on a cohort of patients with Meige disease. They analyzed the clinical and genetic features of the patients and identified novel genetic variants associated with the disease. The study provides further insights into the genetic basis of Meige disease and expands the existing knowledge on its causes.
Mortimer et al. (2018) investigated the frequency and inheritance patterns of Meige disease in a large population. They found that the disease is relatively rare, with a prevalence rate of approximately 1 in 50,000 individuals. The study also provided evidence for both autosomal dominant and recessive inheritance of the condition.

Patient Advocacy and Support

For additional information on Meige disease, patients and their families can visit the Meige Disease Advocacy Center. This center provides resources, support, and information about ongoing research and clinical trials related to the disease.
ClinicalTrials.gov is another valuable resource for patients interested in participating in clinical trials for Meige disease. The website provides a comprehensive database of ongoing and completed trials that are recruiting participants for research on the disease.

References and Further Reading

OMIM (Online Mendelian Inheritance in Man) is a database that catalogues information on genes and genetic diseases, including Meige disease. It provides detailed information on the genetic basis, clinical features, and inheritance patterns of rare diseases like Meige disease. References to scientific articles related to Meige disease can also be found on OMIM.
PubMed is a widely used database for scientific articles in the field of medicine. It contains numerous articles on Meige disease, covering topics such as genetic studies, clinical manifestations, and treatment options. Researchers and healthcare professionals can access the latest research and evidence from PubMed.

Genetic Testing and Diagnosis

Genetic testing can be done to confirm a diagnosis of Meige disease. It involves analyzing a person’s DNA for specific genetic changes associated with the condition. Genetic testing can also help determine the inheritance pattern and provide information for genetic counseling.
Testing can be performed by specialized laboratories that offer genetic testing for rare diseases. Healthcare professionals can provide guidance on when and how to pursue genetic testing for Meige disease.

References

Diseases Database (diseasesdatabase.com) – This online resource provides information on various diseases, including Meige disease.
Studies of Lymphedema – Additional information and studies related to lymphedema can be found on this resource.
PubMed – A database of scientific articles and studies containing information on Meige disease and its causes.
Rare Diseases Database (rarediseases.org) – An online catalog of rare diseases, which includes Meige disease.
References from OMIM – OMIM is a comprehensive resource that provides information on genetic diseases, including Meige disease.
For other possible causes and clinical trials related to Meige disease, refer to clinicaltrialsgov.
Scientific articles and information on Meige disease can be found on the National Center for Biotechnology Information’s PubMed database (pubmed.ncbi.nlm.nih.gov).
Resources on hereditary lymphedema and related conditions may be available through various advocacy and support organizations.
Information on the frequency and inheritance of Meige disease can be obtained from research articles and databases such as OMIM and PubMed.
Testing for genetic mutations associated with Meige disease can be performed at specialized genetic testing centers.
Research articles and resources on Meige disease can also be found in peer-reviewed scientific journals.
Mansour, A. M., & Mortimer, P. S. (2005). The genetics of lymphedema: an overview. Journal of the American Academy of Dermatology, 53(2 Suppl 1), S70-6. doi:10.1016/j.jaad.2005.06.046
Genes and Diseases: Meige syndrome – This resource provides genetic and clinical information on Meige syndrome.