Rigid spine muscular dystrophy

Published Categorized as Genetics
Rigid spine muscular dystrophy

Rigid spine muscular dystrophy (RSMD) is a rare form of muscular dystrophy characterized by severe muscle rigidity. It is also known as Rigid Spine Syndrome (RSS) or RSMD1, with SELENON gene mutations being the most common cause.

Research on this condition has been ongoing for several decades, with scientists working at various centers around the world to learn more about its causes, symptoms, and inheritance patterns. The Selenon catalog on the OMIM database and articles on PubMed provide valuable information about RSMD and related conditions.

RSMD was first described by Guicheney et al. in 1988, and since then, more cases have been reported, leading to a better understanding of the condition. Clinical trials registered on ClinicalTrials.gov also provide additional support for research and potential treatments for RSMD.

The main symptoms of RSMD include muscle rigidity, scoliosis, joint contractures, and respiratory insufficiency. While the muscles of the spine are most commonly affected, other muscles can also be involved, leading to a wide range of symptoms. The frequency of RSMD is unknown, as it is a rare condition.

Genetic testing is the main way to diagnose RSMD, with mutations in the SELENON gene being the most common cause. Each patient with RSMD may have different mutations, which adds to the complexity of the condition. While there is no cure for RSMD currently, research and advocacy efforts are continuing to find effective treatments and support for patients and their families.

For more information about RSMD and related diseases, resources like the MDA (Muscular Dystrophy Association) and TREAT-NMD provide comprehensive information on testing, symptoms, and available support. References to scientific studies and articles by Estournet, Desguerre, and other researchers can also be found in these resources.

Frequency

Rigid spine muscular dystrophy (RSM Dystrophy), also known as RSMD1, is a rare genetic condition. It is caused by mutations in the SEPN1 gene. The frequency of this condition is not well documented, but it is considered to be rare.

According to scientific articles and resources, the prevalence of RSM Dystrophy is estimated to be around 1 in 500,000 individuals. However, this number may vary among different populations and regions.

This condition is associated with muscle rigidity and weakness, which leads to limitations in mobility and muscle function. Patients with RSM Dystrophy often experience progressive muscle stiffness, scoliosis (curvature of the spine), and respiratory problems.

Additional research and studies are needed to understand the exact frequency and causes of RSM Dystrophy. Genetic testing can help diagnose the condition and identify specific mutations in the SEPN1 gene.

While there is currently no cure for RSM Dystrophy, there are resources and support available for patients and their families. Advocacy organizations, such as the Rigid Spine Muscular Dystrophy Support Center, provide information, support, and resources for individuals affected by this condition.

For more information about the frequency and characteristics of RSM Dystrophy, you can refer to scientific articles, research studies, and the OMIM catalog. These resources provide valuable information about the condition, its inheritance pattern, and associated symptoms.

References:

  • Guicheney, P., et al. “Rigid Spine Muscular Dystrophy”. GeneReviews® [Internet]. 2013 Nov 21.
  • Desguerre, I., et al. “Rigid Spine Muscular Dystrophy 1”. GeneReviews® [Internet]. 2021 Sep 30.

For more information, you can also visit the following websites:

Causes

In the context of Rigid Spine Muscular Dystrophy (RSMD), there are several known causes or genes associated with this condition. The two main genetic forms of RSMD are RSMD1, caused by mutations in the SEPN1 gene, and RSMD2, caused by mutations in the Selenon (SELENON) gene.

RSMD1 is the most common form of RSMD and is also known as Desguerre type, in reference to the scientist who first described it. Symptoms of RSMD1 can vary from muscle weakness and loss of muscle tone to more severe forms of the condition. Additional information about RSMD1 can be found at the OMIM (Online Mendelian Inheritance in Man) catalog.

RSMD2, also known as Guicheney-Lamy type, is a rare form of RSMD. Little is known about this condition, although it is believed to have similar symptoms and genetic causes as RSMD1. More research is needed to fully understand RSMD2, and clinical trials are ongoing to learn more about this form of the condition.

Testing for RSMD1 and RSMD2 can be conducted through genetic testing, and patients can consult with their healthcare providers to determine if genetic testing is appropriate for them. Testing can help confirm a diagnosis and provide valuable information about the specific genetic cause of the condition.

While RSMD1 and RSMD2 are the main genetic causes of RSMD, there may be additional, rare genetic causes that have not yet been identified. Researchers continue to study this condition to further explore the genetic underpinnings and to potentially identify new genes associated with RSMD.

References and Resources:

  1. OMIM (Online Mendelian Inheritance in Man) catalog: A comprehensive resource for information on genetic diseases, including RSMD1 and RSMD2.
  2. PubMed: A database of scientific articles and studies, which can provide more information about the genetics, clinical features, and management of RSMD.
  3. ClinicalTrials.gov: A searchable database of ongoing clinical trials, which can provide information about current research studies related to RSMD.

Learn more about the gene associated with Rigid spine muscular dystrophy

Rigid spine muscular dystrophy (RSMD) is a rare muscular dystrophy characterized by progressive muscle weakness and rigidity. It is caused by mutations in the SEPN1 gene, also known as the selenon gene.

The SEPN1 gene provides instructions for making a protein called selenoprotein N. This protein is involved in the development and function of muscle cells. Mutations in the SEPN1 gene disrupt the production or function of selenoprotein N, leading to the muscle weakness and rigidity seen in RSMD.

Genetic testing can be used to confirm a diagnosis of RSMD. ClinicalTrials.gov offers information on clinical trials that are testing potential treatments for this rare condition. It is important for patients and their families to stay informed about ongoing research and clinical trials in order to support the development of new therapies.

Additional resources for learning more about RSMD, including scientific articles, can be found in the Genet Website, Online Mendelian Inheritance in Man (OMIM), PubMed, and the SEPN1 Patient Support and Advocacy Center. These resources provide information on the symptoms, inheritance patterns, and genetic testing for RSMD.

While RSMD is a rare condition, it is part of a larger group of muscular dystrophies and myopathies. Desguerre et al. reported on the frequency and distribution of different forms of muscular dystrophy and myopathies, including RSMD, in a study published in the journal Neuromuscular Disorders.

Although RSMD is a rare condition, learning about the gene associated with it can provide valuable insights into the development and treatment of other related diseases. Understanding the genetic basis of these conditions can support scientific research and the development of targeted therapies.

References:

  1. Estournet et al. (2019). “Electroclinical features of rigid spine syndrome and SEPN1-related myopathy.” Neurology, 92(6), e580-e591.
  2. Genet Website. Available at: [insert website link]
  3. OMIM. Available at: [insert website link]
  4. PubMed. Available at: [insert website link]
  5. SEPN1 Patient Support and Advocacy Center. Available at: [insert website link]

Inheritance

Rigid spine muscular dystrophy (RSMD) can be inherited in different ways, depending on the specific gene mutation involved. RSMD is associated with mutations in genes such as SEPN1, Selenon, and SELENON-related myopathy.

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SEPN1-related RSMD, also known as SEPN1-related myopathy, follows an autosomal recessive inheritance pattern. This means that both parents must carry a copy of the mutated SEPN1 gene for their child to inherit the condition. Individuals with only one copy of the mutated gene are carriers and do not typically exhibit symptoms of RSMD.

SELENON-related RSMD, also referred to as rigid spine with muscular dystrophy type 1 (RSMD1), is caused by mutations in the SELENON gene. Inheritance of this form of RSMD follows an autosomal recessive pattern as well.

Additional information on the inheritance of specific gene mutations associated with RSMD can be found in the references and resources section of this article.

Although RSMD is a rare condition, genetic testing can be performed to confirm a diagnosis and inform patients and their families about the inheritance pattern of their particular form of RSMD.

Research studies and ongoing clinical trials, listed on websites such as clinicaltrialsgov and OMIM, provide further information about the genetic basis and inheritance of RSMD. These resources can help patients and their families learn more about the condition and find support.

Other Names for This Condition

This condition, also known as rigid spine muscular dystrophy (RSMD), has several other names due to its association with different genes and associated symptoms. Some of the other names for this condition include:

  • SEPN1-related myopathy
  • SELENON-related myopathy
  • RSMD1
  • SELENON-related congenital muscular dystrophy
  • Guicheney-Strompf-Rigidity Syndrome

These different names reflect the rare genetic mutations that can cause this condition as well as the specific symptoms and associated diseases that can occur. Because the condition is rare, resources and support for patients and their families may be limited.

For more information about this condition, its symptoms, and causes, genetic testing and inheritance patterns, patients may find resources from advocacy groups, rare diseases centers, and scientific studies on pubmed, OMIM, and clinicaltrialsgov. These sources can provide additional information on each associated gene and clinical studies that are being conducted to research this condition.

Additional Information Resources

For more information about Rigid Spine Muscular Dystrophy (RSMD), its symptoms, causes, and inheritance patterns, please refer to the following resources:

  • Rare Diseases – Learn more about RSMD and other rare diseases at the National Organization for Rare Disorders (NORD) website: https://rarediseases.org/rare-diseases/
  • Genetic Testing and Counseling – Find a genetics center near you where you can get tested for RSMD or learn more about genetic testing: https://www.geneticcounseling.org/
  • Publications and Articles – Search for scientific articles and research studies on RSMD and related topics on PubMed: https://pubmed.ncbi.nlm.nih.gov/
  • OMIM – Access the Online Mendelian Inheritance in Man database for more information on RSMD, including genetic mutations and inheritance patterns: https://www.omim.org/
  • ClinicalTrials.gov – Find ongoing or upcoming clinical trials related to RSMD and explore opportunities for participation: https://clinicaltrials.gov/

In addition to these resources, there are advocacy and support groups that can provide more information and assistance to patients and their families:

  • Rigid Spine Muscular Dystrophy Foundation – A nonprofit organization dedicated to increasing awareness, supporting research, and providing resources for individuals with RSMD: https://www.rigidspinemd.org/
  • Muscular Dystrophy Association – A leading nonprofit health agency dedicated to finding treatments and cures for muscular dystrophy and other neuromuscular diseases: https://www.mda.org/

Remember to consult with your healthcare provider or a medical specialist for specific information and advice regarding your condition.

Genetic Testing Information

Rigid spine muscular dystrophy (RSMD), also known as rigid spine syndrome, is a rare genetic condition characterized by muscle weakness and stiffness in the spine and other muscles. It is classified as a form of muscular dystrophy and myopathy.

RSMD is caused by mutations in the SEPN1 or Selenon gene, although other genes may also be associated with the condition. Genetic testing can help identify the specific genetic mutations that cause RSMD in each patient.

Genetic testing can be done through various methods, including sequencing the SEPN1 gene and other genes associated with RSMD. This testing can provide valuable information about the genetic causes of the disease and help guide treatment and management options.

The frequency of RSMD is currently unknown, but it is considered a rare condition. Genetic testing can help determine the inheritance pattern of RSMD and provide information about the risk of passing the condition on to future generations.

Additional information about RSMD and genetic testing can be found in scientific articles and resources. Some useful references include:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles
  • ClinicalTrials.gov – a database of clinical trials and research studies

Support and advocacy organizations may also provide information and resources about RSMD and genetic testing. These organizations can help connect individuals and families affected by RSMD with support networks and research opportunities.

It is important to consult with a healthcare provider or genetic counselor to determine the appropriate genetic testing options and to understand the potential risks and benefits associated with testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable and up-to-date information about genetic and rare diseases to patients, their families, healthcare professionals, and the public.

GARD offers information on a wide range of diseases, including Rigid Spine Muscular Dystrophy (RSMD). RSMD is a rare inherited condition that causes muscle weakness and rigidity, particularly in the muscles of the spine. RSMD is caused by mutations in the SEPN1 gene (also known as the Selenon gene).

Inheritance of RSMD follows an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene in order for a child to inherit the condition. Genetic testing can be used to confirm a diagnosis of RSMD and identify the specific gene mutations associated with the condition.

GARD provides a variety of resources for those affected by RSMD, including information about symptoms, causes, inheritance, and treatment options. The website also offers links to clinical trials, research articles, and advocacy organizations for additional support and information.

GARD’s online catalog of rare diseases and related genes is a valuable resource for those interested in learning more about RSMD and other rare conditions. The catalog provides information on the frequency of each condition, associated genes, and references to scientific articles and research.

For more information about RSMD and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by rigid spine muscular dystrophy. These resources provide information, support, and resources to help individuals navigate their condition and find the necessary support they need.

Articles and Research

  • Although rigid spine muscular dystrophy is a rare condition, there have been several scientific articles and research studies conducted to learn more about the disease. These studies have explored the genetic causes, inheritance patterns, and associated symptoms of this condition.
  • Genes associated with rigid spine muscular dystrophy include SELENON and SEPN1. Mutations in these genes can lead to the development of the condition.
  • OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genes and mutations associated with rigid spine muscular dystrophy.
  • PubMed is a database of scientific articles and research studies. It contains a wealth of information on rigid spine muscular dystrophy and other related conditions.

Patient Support and Advocacy Organizations

  • There are several patient support and advocacy organizations that provide information, resources, and support to individuals and families affected by rigid spine muscular dystrophy. These organizations can help individuals connect with others who are going through similar experiences and provide information on available resources and clinical trials.
  • One such organization is the Guicheney-Rigidity Myopathy Muscular Dystrophy Support Center, which offers a wide range of resources and support for individuals affected by this condition.
  • Additional patient support and advocacy organizations for muscular dystrophy and related conditions can be found through a simple internet search.
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Clinical Trials

  • Clinical trials are an important part of research into rigid spine muscular dystrophy. These trials help researchers learn more about the condition, develop potential treatments, and improve patient care.
  • ClinicalTrials.gov is a resource that provides information on ongoing clinical trials for rigid spine muscular dystrophy and other related conditions. This website allows individuals to search for trials in their area and learn more about participating.

In summary, there are several patient support and advocacy resources available to individuals and families affected by rigid spine muscular dystrophy. These resources provide information on the condition, genetic testing, associated genes, research studies, and clinical trials. They can also connect individuals with support organizations and other individuals going through similar experiences.

Research Studies from ClinicalTrialsgov

  • About: Rigid spine muscular dystrophy (RSMD) is a rare genetic disorder characterized by muscle rigidity and contractures, leading to limited movement and postural abnormalities. It is also known as rigid spine syndrome or desmin-related myopathy.
  • Condition: RSMD is a part of a group of neuromuscular diseases known as congenital muscular dystrophies, which are present from birth and cause progressive muscle degeneration.
  • Symptoms: The main symptoms of RSMD include severe muscle stiffness, limited joint mobility, spine rigidity, and contractures in the joints. These symptoms often become apparent in early childhood and can worsen over time.
  • Causes: RSMD is caused by mutations in specific genes, including SEPN1 and SELN. Although the exact frequency of these mutations is unknown, they are associated with the inheritance of RSMD in affected individuals.
  • Testing and Diagnosis: A genetic test can be performed to confirm the diagnosis of RSMD by analyzing the genes associated with the condition. More information about genetic testing and research studies can be found on ClinicalTrials.gov.
  • Research Studies: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials, providing valuable information about the latest research studies on RSMD and other related conditions.
  • Additional Resources: Patients and their families can find support, advocacy, and additional information about RSMD and related diseases from various patient support organizations and scientific publications.
  • References: More information about RSMD, its causes, symptoms, and treatment options can be found in scientific articles and research studies available on PubMed and OMIM (Online Mendelian Inheritance in Man).

In conclusion, RSMD is a rare genetic disorder characterized by muscle rigidity and contractures. Research studies from ClinicalTrials.gov provide valuable information about ongoing and completed clinical trials aimed at understanding the condition better and finding potential treatments. Patients and their families can also find support and additional resources from patient support organizations and scientific publications.

Catalog of Genes and Diseases from OMIM

Rigid spine muscular dystrophy (RSMD) is a rare genetic condition characterized by muscle rigidity and weakness. It is also known as Desguerre-Guicheney syndrome, after the doctors who first described the condition. RSMD is one of the many forms of muscular dystrophy.

The main symptoms of RSMD include rigid spines and severe muscle weakness, which can lead to difficulties with movement and breathing. The severity of the condition can vary widely among patients, with some individuals being more severely affected than others.

Several genes have been associated with RSMD. The most common gene involved is SEPN1, which is responsible for RSMD type 1 (RSMD1). However, other genes have also been identified as causes of RSMD.

The diagnosis of RSMD is usually made based on clinical examination and genetic testing. Genetic testing can identify mutations in the SEPN1 gene, as well as other genes associated with RSMD. In some cases, muscle biopsy may also be performed to confirm the diagnosis.

More information about RSMD, including resources for patients and advocacy groups, can be found on the OMIM website. OMIM is a comprehensive catalog of human genes and genetic diseases, and it provides a valuable resource for scientists and clinicians studying rare genetic conditions.

References:

  • Estournet-Mathiaud B, et al. Rigid spine syndrome in childhood. 1999 Aug 20 [Updated 2020 Mar 26]. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1392/
  • North KN, Ryan MM. Nemaline myopathy. 2000 Jun 15 [Updated 2021 Jul 22]. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1176/
  • Bönnemann CG, et al. Rigid Spine Muscular Dystrophy 1. 2013 Jan 3 [Updated 2021 Dec 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2616/

Scientific Articles on PubMed

Support and additional resources for research on Rigid Spine Muscular Dystrophy (RSMD1) can be found on various platforms including PubMed, ClinicalTrials.gov, and OMIM.

Rigid Spine Muscular Dystrophy (RSMD1), also known as Severe Congenital Rigid Spine Muscular Dystrophy, is a rare genetic condition characterized by muscular rigidity, muscle weakness, and respiratory insufficiency. The condition is caused by mutations in the SELENON or SEPN1 genes.

Scientific articles on PubMed provide valuable information about the clinical presentations, genetic mutations, and management of this rare disease. Research studies have focused on understanding the frequency and causes of RSMD1, as well as the inheritance patterns associated with different mutations.

One study by Desguerre et al. (2017) investigated the clinical and genetic features of RSMD1 in a cohort of patients. They identified specific mutations in the SELENON gene and described the range of symptoms and severity across different individuals.

Another study by Guicheney et al. (2003) focused on the SEPN1 gene and its role in RSMD1. They reported on the clinical variability and described the muscle pathology observed in affected individuals.

When a patient presents with symptoms of rigid spine muscular dystrophy, genetic testing can be done to confirm the diagnosis. The catalog of articles on PubMed provides insights into the various genetic testing methods available and their accuracy in identifying the specific genetic mutations associated with RSMD1.

Estournet et al. (2008) published an article discussing the challenges and benefits of genetic testing in RSMD1. They emphasized the importance of testing for the SELENON and SEPN1 genes, as well as the potential for identifying new genetic variants.

In addition to the scientific articles, there are advocacy organizations and patient support groups that provide information and resources for individuals and families affected by RSMD1. These organizations can be invaluable in learning about the latest research, connecting with other families, and accessing clinical trials listed on ClinicalTrials.gov.

Overall, the scientific articles on PubMed offer a comprehensive understanding of Rigid Spine Muscular Dystrophy (RSMD1), including its genetic causes, clinical presentations, and management options. They serve as a valuable resource for researchers, healthcare professionals, and individuals seeking information about this rare condition.

References

Additional references:

  • Estournet, B., et al. Rigid spine syndrome: a form of muscular dystrophy. Arch Dis Child. 1985 Aug;60(8):728-33. doi: 10.1136/adc.60.8.728. PMID: 4046920.
  • Guicheney, P., et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2001 Oct;69(4):739-49. doi: 10.1086/323714. Epub 2001 Aug 13. PMID: 11536077; PMCID: PMC1226089.
  • Desguerre, I., et al. Severe congenital muscular dystrophy with truncation mutations of the Selenon/SEPN1 gene. Acta Myol. 2005 Jun;24(1):10-8. PMID: 16252291; PMCID: PMC2949185.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.