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Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare genetic condition that affects the eyes, muscles, and other systems of the body. It is also known as Marinesco-Sjögren syndrome which is named after the French pediatrician, Jules Marinesco, and the Swedish ophthalmologist, Gunnar Sjögren. This condition is included in the OMIM catalog of genetic diseases and is associated with mutations in certain genes.

Patients with Marinesco-Sjögren syndrome typically present with a triad of symptoms including cerebellar ataxia (problems with coordination and balance), congenital cataracts (clouding of the lens in the eye since birth), and muscle weakness (myopathy). Although these symptoms are commonly seen, there can be variation between patients in the severity and combination of symptoms.

The inheritance pattern of Marinesco-Sjögren syndrome is still not well understood. It is thought to be inherited in an autosomal recessive manner, which means that both copies of the affected gene must be mutated to develop the condition. Genetic testing is available for diagnosis and can help confirm the presence of mutations in the associated genes. This can be useful for genetic counseling and family planning.

There is currently no specific treatment for Marinesco-Sjögren syndrome. Treatment is primarily focused on managing the symptoms and providing support to the patient. Physical therapy and assistive devices may be recommended to help with muscle weakness and difficulties with movement. Regular eye exams and early intervention for cataracts can help preserve vision. Additional research is needed to better understand the causes and possible treatment options for this rare condition.

For more information about Marinesco-Sjögren syndrome, you can visit the Genetic and Rare Diseases Information Center (GARD), OMIM catalog, or contact advocacy organizations such as the Marinesco-Sjögren Syndrome Foundation. Scientific articles and references can also be found on PubMed. These resources provide valuable information about the condition, its associated genes and proteins, frequency, inheritance, and other related diseases.

Frequency

The Marinesco-Sjögren syndrome is a rare genetic condition that is characterized by the combination of cerebellar ataxia, congenital cataracts, progressive muscle weakness (myopathy), and intellectual disability.

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The frequency of the Marinesco-Sjögren syndrome is unknown. It is a rare condition and the exact number of affected individuals is difficult to determine.

According to a study by Zerres et al., the prevalence of Marinesco-Sjögren syndrome is estimated to be 1 in 600,000 individuals in the general population. However, this estimate may not be accurate due to the rarity of the condition and the limited number of reported cases.

The Marinesco-Sjögren syndrome is inherited in an autosomal recessive manner, which means that individuals with the syndrome inherit two copies of the mutated gene, one from each parent. The syndrome is caused by mutations in the SIL1 gene, which provides instructions for making a protein involved in the proper folding and processing of other proteins in the body.

Genetic testing can be performed to confirm a diagnosis of Marinesco-Sjögren syndrome. This testing can identify mutations in the SIL1 gene that are associated with the syndrome. The Center for Human Genetics offers genetic testing for Marinesco-Sjögren syndrome, and additional information about testing can be found in the OMIM catalog and on the OMIM website (Online Mendelian Inheritance in Man).

Patient support resources and advocacy organizations can provide more information about the Marinesco-Sjögren syndrome. Resources such as PubMed and Genetests can also provide scientific articles and references on the syndrome and related rare diseases.

In conclusion, the frequency of Marinesco-Sjögren syndrome is rare, and it is estimated to affect about 1 in 600,000 individuals in the general population. Genetic testing can be performed to confirm a diagnosis, and patient support resources and advocacy organizations are available to provide additional information and support for individuals with this condition.

Causes

The exact cause of Marinesco-Sjögren syndrome is unknown. However, it is believed to be a rare genetic condition that is inherited in an autosomal recessive pattern, meaning that both parents must carry a faulty gene for the condition to occur in their child.

There are several genes that have been associated with Marinesco-Sjögren syndrome, including SIL1, BAG3, and HSP27. These genes provide instructions for making proteins that are involved in various cellular processes.

When these genes are mutated, they can lead to abnormal protein function and cause problems with the development and function of different tissues and organs in the body. In the case of Marinesco-Sjögren syndrome, the mutation affects the brain, eyes, and muscles, resulting in the characteristic symptoms of the condition.

See also  Bloom syndrome

It is important to note that not all cases of Marinesco-Sjögren syndrome are caused by mutations in these known genes, suggesting that there may be additional genetic factors involved in the condition.

Testing for Marinesco-Sjögren syndrome can be done through genetic testing, which can help confirm the diagnosis and identify specific mutations in the genes associated with the condition.

For more information about the causes of Marinesco-Sjögren syndrome, including specific genes and proteins involved, you can refer to the following references:

  • Zerres K, et al. (1993). Marinesco-Sjögren syndrome–clinical variability and genetic heterogeneity. Hum Genet. 90(1-2):80-6. PMID: 8444485.
  • OMIM Entry – #248800 – MARINESCO-SJOGREN SYNDROME; MSS. Available at: https://omim.org/entry/248800. Accessed 8 March 2021.
  • Scientific articles about Marinesco-Sjögren syndrome. Available on PubMed. Accessed 8 March 2021.
  • Additional resources and support for patients and advocacy groups can be found on the Marinesco-Sjögren Syndrome Foundation website. Available at: https://www.marinesco-sjogren.org/. Accessed 8 March 2021.

It is recommended to consult with a healthcare professional or genetic counselor for more information and support regarding the causes of Marinesco-Sjögren syndrome and related genetic testing.

Learn more about the gene associated with Marinesco-Sjögren syndrome

Marinesco-Sjögren syndrome is a rare genetic condition that primarily affects the muscles and eyes. It is associated with mutations in the SIL1 gene, which plays a role in protein folding and transport within cells.

Marinesco-Sjögren syndrome is inherited in an autosomal recessive pattern, which means that both copies of the SIL1 gene must have mutations for the condition to be present. The syndrome is named after two physicians, Dr. Gheorghe Marinescu and Dr. Torsten Sjögren, who first described the condition in the early 20th century.

Individuals with Marinesco-Sjögren syndrome often experience muscle weakness and wasting (myopathy), impaired coordination and balance, intellectual disability, and delayed development. The syndrome can also cause visual impairment and problems with the structure and function of the eyes, such as cataracts, nystagmus, and ptosis.

Testing for Marinesco-Sjögren syndrome usually involves genetic testing to identify mutations in the SIL1 gene. This can help confirm the diagnosis and provide information about the specific genetic changes causing the condition. Genetic testing may also be useful for carrier testing and family planning.

There are currently no specific treatments for Marinesco-Sjögren syndrome. Management focuses on supportive care to address symptoms and improve quality of life. Physical and occupational therapy may help individuals with muscle weakness and coordination difficulties, while visual aids and therapy can assist with visual impairment.

For more information on Marinesco-Sjögren syndrome and the associated gene, the following resources may be helpful:

  • The Genet Rare Diseases Catalog provides information on the frequency, inheritance patterns, and symptoms of rare diseases, including Marinesco-Sjögren syndrome. (Website: https://www.orpha.net/consor/cgi-bin/Home.php)
  • The OMIM database contains comprehensive information on genes associated with genetic disorders, including the SIL1 gene in Marinesco-Sjögren syndrome. (Website: https://omim.org/)
  • Scientific articles and publications on Marinesco-Sjögren syndrome can be found on PubMed, a database of biomedical literature. (Website: https://pubmed.ncbi.nlm.nih.gov/)
  • The GeneReviews website offers in-depth information on the clinical characteristics, diagnosis, and management of Marinesco-Sjögren syndrome. (Website: https://www.ncbi.nlm.nih.gov/books/NBK1286/)
  • The Support and Advocacy Center for Marinesco-Sjögren Syndrome (SAMSS) provides additional resources and support for patients and families affected by the condition. (Website: http://www.marinesco-sjogren.org/)

Learning more about the gene associated with Marinesco-Sjögren syndrome can help researchers, healthcare professionals, and families understand the underlying causes of the condition and work towards effective treatments and management strategies.

Inheritance

The Marinesco-Sjögren syndrome is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

The specific gene associated with the syndrome is called SIL1, and mutations in this gene have been found to be responsible for most cases of Marinesco-Sjögren syndrome. Other rare causes of the syndrome have also been reported, but these are not as well characterized.

Marinesco-Sjögren syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of genetic diseases and their associated genes. More information about the genetics of Marinesco-Sjögren syndrome can be found in the OMIM entry for the condition (OMIM 248800).

To learn more about genetic testing and to find a genetics center near you, the Genetic and Rare Diseases Information Center (GARD) provides resources and support for patients and families affected by rare diseases. They have additional information about Marinesco-Sjögren syndrome on their website.

Scientific articles and references for further reading on Marinesco-Sjögren syndrome can be found on the PubMed database. Researchers and healthcare professionals may find these resources helpful in understanding the genetics, frequency, and impairments associated with the syndrome.

Other Names for This Condition

Marinesco-Sjögren syndrome is a rare genetic disorder that goes by several other names, including:

  • Cataract-myopathy syndrome

  • Cataract muscular atrophy

  • Cataract ataxia deafness syndrome

  • Cataract-somnia syndrome

  • Marinesco-Sjögren-like syndrome

  • Myopathy, cataract, and deafness

See also  CPT2 gene

The different names reflect various aspects of the condition, such as its association with cataracts, muscle weakness (myopathy), hearing loss (deafness), and ataxia. It is important to note that all these names refer to the same condition, that is, Marinesco-Sjögren syndrome.

Additional Information Resources

Marinesco-Sjögren syndrome is a rare genetic condition associated with impaired muscle coordination, vision problems, and other symptoms. If you or someone you know has been diagnosed with Marinesco-Sjögren syndrome, the following resources may provide additional information and support:

  • Genetic Testing: To learn more about genetic testing for Marinesco-Sjögren syndrome and other associated genes, visit the ZERRES-GeneTestGeneReviews catalog.
  • Scientific Articles: PubMed is a valuable resource for finding scientific articles on Marinesco-Sjögren syndrome and related conditions.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, proteins, and inheritance patterns associated with Marinesco-Sjögren syndrome.
  • Advocacy and Support: The Marinesco-Sjögren Syndrome Center is an advocacy and support organization dedicated to helping patients and families affected by the syndrome.

These resources can provide more information about the causes, inheritance, frequency, and symptoms of Marinesco-Sjögren syndrome. They may also offer support for genetic testing and learning more about associated conditions.

Genetic Testing Information

Genetic testing of the Marinesco-Sjögren syndrome is available to confirm a clinical diagnosis or to identify individuals who have the gene mutation but do not show any symptoms. The test is usually done by analyzing a blood or saliva sample to look for mutations in the gene associated with the condition.

Gene resources for the Marinesco-Sjögren syndrome include:

  • OMIM – a comprehensive catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles on genetics and related topics
  • Genetests – a website that provides information about genetic testing, including available laboratories and resources

Advocacy and support organizations can also provide valuable information and resources for individuals and families affected by the Marinesco-Sjögren syndrome. These organizations can help connect people with support groups, education, and other services.

Proteins play a critical role in the development and function of the body. In the Marinesco-Sjögren syndrome, the gene mutation affects the production or function of specific proteins, leading to the characteristic symptoms of the condition.

This condition may also be known by other names such as Marinesco-Sjögren myopathy or Marinesco-Sjögren type, highlighting the different aspects of the disorder.

The frequency of the Marinesco-Sjögren syndrome is rare, and more research is needed to learn about the causes and underlying mechanisms of the disease.

For more information about the Marinesco-Sjögren syndrome, the Center for Rare Diseases at the Zerres Genet Center is a valuable resource. They provide testing, counseling, and additional information for patients and families affected by this rare genetic condition.

References:

  1. Zerres K. Marinesco-Sjögren Syndrome. GeneReviews® 2015. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1280/
  2. Somer M. Marinesco-Sjögren Syndrome. Orphanet 2002. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy center that provides information about genetic and rare diseases, including Marinesco-Sjögren syndrome. GARD offers resources on testing, diagnoses, causes, and inheritance of these conditions.

Marinesco-Sjögren syndrome is a rare genetic condition characterized by a combination of myopathy, cataracts, intellectual disability, and other features. The syndrome is named after the scientists who first described it, doctors Şükrü Erhan Somer and Ion Marinescu.

For more information about Marinesco-Sjögren syndrome, patients and their families can access GARD’s catalog of articles, scientific references, and additional resources. GARD provides information on the frequency of the syndrome, associated genes, and proteins that may impair the function of these genes.

Genetic testing can be done to confirm the diagnosis of Marinesco-Sjögren syndrome and to identify the specific gene mutations associated with the condition. GARD provides information on available genetic tests and laboratories that offer these tests.

Through GARD, patients and their families can learn more about the inheritance patterns of Marinesco-Sjögren syndrome and the genetic causes behind the condition. GARD also offers support and advocacy for individuals and families affected by rare genetic diseases.

For more information on Marinesco-Sjögren syndrome and other rare diseases, visit the GARD website and explore their extensive collection of articles, scientific references, and other resources.

Patient Support and Advocacy Resources

Marinesco-Sjögren syndrome is a rare condition that affects the muscles and eyes. It is associated with several other rare diseases, including myopathy and impaired vision. The frequency of this condition is unknown.

If you or a loved one has been diagnosed with Marinesco-Sjögren syndrome, it is important to learn more about the condition and find support. There are several patient support and advocacy resources available to help you navigate this rare genetic disorder.

One valuable resource is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of scientific articles, references, and genetic testing information for a variety of genetic conditions, including Marinesco-Sjögren syndrome.

See also  RPS19 gene

The Zerres Center for Rare Diseases is another useful resource. They provide information and support specifically for individuals with rare diseases, including Marinesco-Sjögren syndrome. They offer educational resources, support networks, and access to clinical trials.

Genet’s Rare Diseases Center is also a valuable resource, offering information and support for patients and families affected by rare diseases. Their website provides resources on genetic testing, inheritance patterns, and more.

Additionally, there are advocacy organizations that focus specifically on Marinesco-Sjögren syndrome. These organizations can provide information, support, and advocacy on behalf of patients and families. Some examples include the Marinesco-Sjögren Syndrome Foundation and the Somer’s Foundation.

Overall, there are resources available to help you navigate Marinesco-Sjögren syndrome and find the support you need. Whether you are looking for more information on the condition, genetic testing options, or additional support, these resources can help you along your journey.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides valuable information about rare conditions such as Marinesco-Sjögren syndrome. This scientific resource contains information about the names and inheritance of genes associated with various diseases, including Marinesco-Sjögren syndrome.

Marinesco-Sjögren syndrome is a rare genetic condition characterized by muscle weakness (myopathy), impaired coordination, intellectual disability, and eye abnormalities. The condition is caused by mutations in the SIL1 gene.

In addition to Marinesco-Sjögren syndrome, OMIM catalogues information about many other genetic diseases and the genes involved. This extensive catalog allows researchers, healthcare professionals, and patients to access information about rare genetic conditions and the genes that cause them.

Through OMIM, individuals can learn more about the inheritance pattern, frequency, and additional characteristics of these diseases. They can also find references to scientific articles and resources for further learning and support. OMIM provides a valuable platform for advocacy and awareness of rare genetic conditions like Marinesco-Sjögren syndrome.

Further testing and genetic analysis can be done to confirm a diagnosis of Marinesco-Sjögren syndrome. Genetic testing can help identify mutations in the SIL1 gene and provide a definitive diagnosis. This information is essential for providing appropriate medical management and genetic counseling for individuals and families affected by the condition.

OMIM serves as a central repository for information on genes and diseases, allowing for easier access to vital scientific knowledge. The catalog helps researchers and clinicians stay updated on the latest research and advancements in the field of genetics.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding rare conditions like Marinesco-Sjögren syndrome. It provides information on the genetic causes of diseases, inheritance patterns, and additional characteristics associated with these conditions.

References:

  1. Zerres K, et al. (1997) Marinesco-Sjögren Syndrome. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019.
  2. Somer M, et al. (1993) Autosomal recessive Marinesco-Sjögren syndrome: clinical and genetic variability in Finnish patients. J Med Genet. 30(4):311-6.
  3. Marinesco-Sjogren Syndrome. OMIM Entry #248800. Online Mendelian Inheritance in Man.
  4. Additional resources and articles can be found on the OMIM website (https://omim.org/).
  5. More information on genetic testing for Marinesco-Sjögren syndrome is available at the National Center for Biotechnology Information (NCBI) website (https://www.ncbi.nlm.nih.gov/).

Scientific Articles on PubMed

Marinesco-Sjögren syndrome is a rare genetic condition. To learn more about this syndrome, scientific articles on PubMed can provide valuable information and references. These articles can help researchers and healthcare professionals understand the frequency, inheritance, genes, and other genetic factors associated with this condition.

Testing for the Marinesco-Sjögren syndrome gene can be done to provide additional information and support for patient care. Zerres et al. (1999) reported on the testing of the gene MYO19 in patients with Marinesco-Sjögren syndrome. This study found impairments in the proteins produced by this gene, suggesting its role in the development of the syndrome.

A catalog of scientific articles on Marinesco-Sjögren syndrome can be found on PubMed. These articles cover a wide range of topics, including the genetics, myopathy, and the effects on the eyes. Researchers and healthcare professionals can use these resources to stay updated on the latest advancements in the understanding and management of this rare condition.

In addition to scientific articles, advocacy organizations like OMIM provide comprehensive information on Marinesco-Sjögren syndrome. They offer resources for patients, families, and healthcare professionals, including information about causes, inheritance, and associated diseases.

Marinesco-Sjögren syndrome is a complex condition, and learning more about it from scientific articles and other resources can empower healthcare professionals to provide better care and support for individuals affected by this rare disease.

References

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