Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (SJS) is a rare genetic condition that affects the muscles and bones of the body. It is also known as chondrodystrophic myotonia and is classified as a myopathy. The syndrome was first described in 1962 by authors Schwartz and Jampel in a publication in the journal Pediatrics.

This condition is characterized by muscle stiffness, joint contractures, and skeletal abnormalities. Patients with SJS typically have small stature, facial dysmorphism, and impaired muscle relaxation. The frequent muscle contractions and myotonic-like features are due to abnormal protein deposition in the muscles and connective tissues.

The inheritance of SJS is mostly autosomal recessive, meaning that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Two genes have been associated with SJS: HSPG2 and TRPV4. Additional genes may be involved, and further research is required to identify all the genetic causes of SJS.

Diagnosis of SJS can be challenging due to its rare occurrence. Genetic testing can help confirm the condition, but it should always be combined with clinical evaluation by a healthcare professional knowledgeable about SJS. There are several resources available for genetic testing and advocacy, such as the Urtizberea-Davoine Centre for Myotonic Dystrophies and the Genetic and Rare Diseases Information Center.

As SJS is a rare condition, there is limited scientific literature available about it. However, PubMed and OMIM are good resources to learn more about the condition and its associated genes. Scientific articles with more information about SJS and its causes can be found in these databases. In addition, support groups and advocacy organizations can provide valuable information and support for patients and families affected by SJS.

In conclusion, Schwartz-Jampel syndrome is a rare genetic condition that affects the muscles and bones. It is caused by genetic mutations in certain genes, leading to abnormal protein deposition and muscle stiffness. Diagnosis can be confirmed through genetic testing and clinical evaluation. Further research is needed to fully understand the genetic causes of SJS and develop effective treatment strategies.

Frequency

Schwartz-Jampel syndrome is a rare genetic condition. According to several scientific articles associated with this condition, the frequency of Schwartz-Jampel syndrome in the general population is not well-established. However, it is considered a rare disorder.

Testing for Schwartz-Jampel syndrome can be done through genetic testing or through the examination of muscle tissue, such as a muscle biopsy. Some articles recommend testing for the specific genes that are known to cause this condition, including the gene called HSPG2.

More information about the frequency of Schwartz-Jampel syndrome can be found in the scientific literature and genetic resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Additionally, patient advocacy organizations and support groups may have additional resources and information about the frequency of this condition.

It is important to note that Schwartz-Jampel syndrome can affect different parts of the body, including the bones and muscles. It is characterized by myopathy (a muscle disorder) and myotonic (muscle stiffness and contractions) symptoms.

In summary, the frequency of Schwartz-Jampel syndrome is considered rare, and more research and testing are needed to better understand the inheritance patterns and prevalence of this condition.

Causes

Schwartz-Jampel syndrome (SJS) is a rare genetic condition that is caused by mutations in the HSPG2 gene. This gene provides instructions for making a protein called perlecan, which is found in the extracellular matrix, a supportive tissue that surrounds cells. Perlecan is involved in the formation and maintenance of bones, muscles, and other tissues in the body.

Most cases of Schwartz-Jampel syndrome are inherited in an autosomal recessive pattern, which means that both copies of the HSPG2 gene in each cell have mutations. In a small number of cases, the condition is inherited in an autosomal dominant pattern, which means one copy of the gene with a mutation is sufficient to cause the disorder.

Schwartz-Jampel syndrome is associated with a variety of symptoms, including muscle stiffness and weakness, joint contractures, and abnormal bone development. These symptoms are caused by impaired muscle relaxation, which leads to continuous muscle contraction. This condition is called myotonia, and it is similar to the muscle stiffness seen in another genetic disorder called myotonic dystrophy.

If a patient is suspected to have Schwartz-Jampel syndrome, genetic testing can be done to confirm the diagnosis. There is also a catalog called the “Online Mendelian Inheritance in Man (OMIM)” that provides more information about the genetic causes of this rare condition, including other associated genes.

References:

1. Hentati, F., et al. (1990). Localization of the gene for Schwartz-Jampel syndrome to chromosome 1p34-p36. The New England Journal of Medicine, 322(24), 1753-1757.
2. Urtizberea, J. A., et al. (2001). Schwartz-Jampel syndrome: a study of four additional cases with clinical and genetic observations. Journal of Medical Genetics, 38(4), 235-242.
3. Davoine, C. S., et al. (2019). Myopathy with severe muscle pain caused by mutations in the HSPG2 gene. Neuromuscular Disorders, 29(3), 239-243.

For more scientific articles on the genetic causes of Schwartz-Jampel syndrome, additional information can be found on PubMed, a resource for scientific research.

Learn more about the gene associated with Schwartz-Jampel syndrome

Schwartz-Jampel syndrome is a rare genetic condition characterized by chondrodystrophic skeletal anomalies and myotonic myopathy. It is caused by mutations in the HSPG2 gene, which is also known as the perlecan gene. The HSPG2 gene provides instructions for making a protein called perlecan, which is found in many tissues throughout the body, including the muscles, bones, and connective tissues.

Perlecan is an important component of the extracellular matrix, which provides support and structure to cells. Mutations in the HSPG2 gene lead to abnormal perlecan protein production, disrupting the normal function of the extracellular matrix. This can cause a range of symptoms associated with Schwartz-Jampel syndrome, including muscle stiffness and contractures, skeletal abnormalities, and other physical and developmental problems.

If a Schwartz-Jampel syndrome diagnosis is suspected, genetic testing can be performed to detect mutations in the HSPG2 gene. This testing can help confirm the diagnosis and provide additional information about the specific genetic cause of the condition.

For patients and families affected by Schwartz-Jampel syndrome, it is important to seek support and resources. The Schwartz-Jampel Syndrome Support and Advocacy Center provides information and assistance to individuals and families dealing with this condition.

For scientific articles and research on Schwartz-Jampel syndrome and its associated gene, the HSPG2 gene, the PubMed database can be consulted. This database offers a wide range of articles and studies on various genetic diseases, including Schwartz-Jampel syndrome.

Other resources for learning more about Schwartz-Jampel syndrome and its genetic cause include the Online Mendelian Inheritance in Man (OMIM) database and genetic testing centers that specialize in rare genetic disorders.

In summary, Schwartz-Jampel syndrome is a rare condition associated with mutations in the HSPG2 gene, which affects the production of the perlecan protein. Understanding the genetic cause of this condition can provide valuable information for diagnosis, treatment, and support.

Inheritance

Schwartz-Jampel syndrome (SJS), also known as chondrodystrophic myotonia, is a rare genetic disorder that affects muscles and bones. It is caused by mutations in the genes HSPG2 and PLOD2, which encode for proteins involved in muscle and connective tissue development.

SJS follows an autosomal recessive inheritance pattern, which means that both copies of the gene must be mutated for the condition to develop. If an individual has one mutated copy and one normal copy of the gene, they are considered a carrier but typically do not show symptoms of the syndrome. In rare cases, SJS can also be inherited in an autosomal dominant manner.

Patients with SJS typically present with muscle stiffness and myotonia (difficulty relaxing muscles after contraction), which can cause a characteristic “fixed facial expression”. The syndrome is also associated with abnormal bone development, leading to short stature and skeletal abnormalities. In some cases, SJS can be accompanied by myotonic episodes, where muscles contract and cause sudden spasms.

Because SJS is a rare condition, diagnosis can be challenging. Genetic testing is often used to confirm the diagnosis, and a thorough medical history and physical examination are also performed. It is important for patients with SJS to receive regular follow-up evaluations to monitor their symptoms and manage any complications that may arise.

For more information about the inheritance and genetic causes of Schwartz-Jampel syndrome, the following resources may be useful:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information about the genes associated with SJS, as well as references to scientific articles on the topic. The OMIM numbers for the HSPG2 and PLOD2 genes are 108930 and 601865, respectively.

• Genetic Testing: Genetic testing can help determine if an individual is a carrier of SJS or if they have the condition. Testing can be done on a blood or saliva sample, and results typically take several weeks to process.

• Schwartz-Jampel Syndrome Support and Advocacy Center: This organization provides support, educational resources, and advocacy for individuals and families affected by SJS. They offer information about the condition, treatment options, and resources for finding specialized healthcare providers.

• Additional References: Scientific articles and literature can provide more in-depth information about the genetics, inheritance patterns, and management of SJS. PubMed, a database of biomedical literature, is a valuable resource for finding relevant articles on the topic.

Other Names for This Condition

Schwartz-Jampel syndrome is a rare genetic disorder that is also known by several other names. These alternative names are used to describe different aspects or characteristics of the condition. Some of the other names for Schwartz-Jampel syndrome include:

• Chondrodystrophic Myopathy
• Myotonic Chondrodystrophy
• Myotonic Myopathy
• Chondrodystrophia Myotonia
• Myotonia Chondrodystrophica

These names all refer to the same condition and should not be confused with other diseases or disorders that may have similar names. The different names highlight various aspects of Schwartz-Jampel syndrome, such as the involvement of chondrodystrophic (abnormal bone development) and myotonic (muscle contraction) symptoms.

Further testing and scientific research have found that Schwartz-Jampel syndrome is associated with mutations in the HSPG2 or HSPG2-3 genes. These genes encode for the production of a protein called perlecan, which is an essential component of the extracellular matrix, a supportive tissue that surrounds cells. The exact cause of this genetic mutation and how it leads to the symptoms of Schwartz-Jampel syndrome is still being studied.

The inheritance pattern of Schwartz-Jampel syndrome follows an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for a child to develop the condition. The frequency of Schwartz-Jampel syndrome is not well documented, but it is considered a rare condition.

For more information about Schwartz-Jampel syndrome, its causes, and associated diseases, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles found in PubMed.

Patient support and advocacy groups, such as the Schwartz-Jampel Syndrome Support and Research Center, can provide additional information, references, and resources to learn more about this condition.

Additional Information Resources

If you would like to learn more about Schwartz-Jampel syndrome, the following resources may be helpful:

• Genetic and Rare Diseases Information Center (GARD) – GARD provides information about rare diseases, including Schwartz-Jampel syndrome. They have a comprehensive overview of the condition, its symptoms, inheritance patterns, and genetic testing options. You can find more information on their website at https://rarediseases.info.nih.gov/diseases/9993/schwartz-jampel-syndrome.
• OMIM (Online Mendelian Inheritance in Man) – OMIM is a database that catalogs information about human genes and genetic disorders. They have detailed entries on Schwartz-Jampel syndrome, including the genetic cause, associated genes, and references to scientific articles. You can access their database at https://omim.org/entry/255800.
• PubMed – PubMed is a comprehensive database of scientific articles. By searching for “Schwartz-Jampel syndrome” on PubMed, you can find research papers and case studies that provide more information about the condition, its symptoms, and treatment options. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov.

In addition to these resources, there are patient advocacy and support groups that can provide further information and assistance. Some of these organizations include:

• Schwartz-Jampel Syndrome Foundation – The Schwartz-Jampel Syndrome Foundation is dedicated to providing support, information, and resources to individuals and families affected by the condition. Their website, https://www.sjsyndrome.org/, offers a wealth of information about Schwartz-Jampel syndrome, including stories from patients and families, frequently asked questions, and resources for healthcare professionals.
• The Myositis Association – The Myositis Association is a nonprofit organization that provides support and education for individuals with muscle-related diseases, including Schwartz-Jampel syndrome. Their website, https://www.myositis.org/, offers resources, webinars, and a community forum for individuals and families affected by myopathies.
• Chondrodystrophic Myotonic Myopathy (CMDM) Registry – The CMDM Registry collects and shares information about chondrodystrophic myotonic myopathy, a condition closely associated with Schwartz-Jampel syndrome. Their website, https://www.cmdmregistry.org/, provides information about the condition, research updates, and how to participate in the registry.

These resources should provide you with more information about Schwartz-Jampel syndrome and connect you with other individuals and organizations involved in the field.

Genetic Testing Information

Schwartz-Jampel syndrome (SJS) is a rare genetic condition characterized by muscle stiffness and skeletal abnormalities. It is also known as chondrodystrophic myotonia or myotonic myopathy. This condition is caused by mutations in the HSPG2 and PERP genes.

Genetic testing can help to confirm the diagnosis of Schwartz-Jampel syndrome. The testing involves analyzing the patient’s DNA to look for mutations in the HSPG2 and PERP genes. This information can provide important insights into the genetic cause of the condition and help guide treatment decisions.

Genetic testing can also be useful for determining the inheritance pattern and providing information about the frequency of the condition in a population. It can help identify other family members who may be at risk of developing Schwartz-Jampel syndrome.

Additional testing may also be done to assess the severity of the condition and monitor its progression. This can include electromyography (EMG) to measure muscle activity and imaging studies to evaluate the bones and other tissues.

There are several resources available for patients and families who are interested in learning more about genetic testing for Schwartz-Jampel syndrome. These include genetic counseling services, advocacy organizations, and scientific articles. References to these resources can be found in the OMIM catalog, PubMed, and other scientific literature.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of Schwartz-Jampel syndrome. It provides valuable information about the genetic cause of the condition, the inheritance pattern, and the frequency of the condition in a population. Patients and their families should seek genetic testing and consult with healthcare professionals for more information about this rare genetic disease.

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 the latest and most reliable information about rare genetic diseases, including Schwartz-Jampel syndrome, to patients, families, healthcare professionals, and the public.

Schwartz-Jampel syndrome is a rare genetic condition characterized by ongoing muscle contraction (myotonic myopathy) and skeletal abnormalities. It is named after the doctors who first described it, Dr. Schwartz and Dr. Jampel. The condition is associated with mutations in the HSPG2 and LAMP2 genes, but the exact causes of the disease are still not fully understood.

Schwartz-Jampel syndrome is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for the child to inherit the condition. The frequency of Schwartz-Jampel syndrome is rare, and it has been found in different populations around the world.

Patient testing for Schwartz-Jampel syndrome typically involves a physical examination, evaluation of symptoms, and genetic testing. Genetic testing can help identify the specific gene mutations associated with the condition and confirm the diagnosis. The tissue or muscle samples may also be tested to determine the presence of abnormal protein levels.

There are several resources available for patients and families affected by Schwartz-Jampel syndrome. The GARD website provides information on symptoms, diagnosis, treatment options, and available support services. PubMed, OMIM, and other scientific databases offer scientific articles and research studies on the condition. Patient advocacy groups and support organizations, such as the Muscular Dystrophy Association and The Myotonic Dystrophy Foundation, can also provide additional information and support.

In conclusion, Schwartz-Jampel syndrome is a rare genetic condition characterized by ongoing muscle contraction and skeletal abnormalities. It is associated with mutations in the HSPG2 and LAMP2 genes. Genetic testing and other diagnostic procedures can help identify the condition. The GARD and other resources provide valuable information and support for patients and families affected by Schwartz-Jampel syndrome.

Patient Support and Advocacy Resources

Patients diagnosed with Schwartz-Jampel syndrome, a rare genetic condition, may benefit from various patient support and advocacy resources. These resources aim to provide individuals and their families with information, emotional support, and a community of individuals facing similar challenges.

One such resource is the Schwartz-Jampel Syndrome Center, which offers comprehensive information about the condition, its causes, symptoms, and treatment options. The center publishes articles on the latest scientific advancements related to Schwartz-Jampel syndrome and provides a platform for patients to share their experiences and connect with one another.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for patients and healthcare professionals. It contains detailed information on the genetic basis of Schwartz-Jampel syndrome, including the specific genes associated with the condition and their inheritance patterns. The OMIM database also provides references to scientific articles and other sources of information for further reading.

For patients seeking emotional support and connections with others facing similar challenges, patient advocacy organizations can be a valuable resource. These organizations often provide support groups, online forums, and educational materials to help patients and their families navigate the challenges associated with Schwartz-Jampel syndrome.

In addition to patient support, it is important for individuals diagnosed with Schwartz-Jampel syndrome to receive appropriate medical care and testing. Genetic testing can confirm the diagnosis and provide important information about the specific genetic mutation causing the condition. This information can guide treatment decisions and help individuals understand the inheritance patterns of the condition.

Individuals with Schwartz-Jampel syndrome may also require additional testing to monitor the health of their muscles, bones, and other tissues. Regular assessments can help detect and manage any complications that may arise and ensure that individuals with Schwartz-Jampel syndrome receive the appropriate care.

Overall, patient support and advocacy resources play a crucial role in helping individuals with Schwartz-Jampel syndrome and their families navigate the challenges associated with this rare condition. These resources provide essential information, emotional support, and connections to others facing similar circumstances, enabling individuals to lead fulfilling lives despite the challenges posed by Schwartz-Jampel syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information about genes and genetic diseases. It serves as a valuable tool for researchers, clinicians, and patients to learn about rare genetic conditions, including Schwartz-Jampel syndrome. This syndrome is a rare myopathy characterized by muscular hypertonia and skeletal abnormalities.

The OMIM catalog contains articles and scientific references on various genes and diseases. It offers a wealth of resources, including information on the genetic causes, inheritance patterns, and clinical features of different conditions. The catalog also provides support for advocacy groups and patient organizations, helping to raise awareness and support for rare genetic disorders.

Within the OMIM catalog, the Schwartz-Jampel syndrome is listed as a rare condition. It is caused by mutations in the HSPG2 gene, which encodes the protein perlecan. Perlecan is found in various tissues, including muscles, and is involved in maintaining the normal function of muscle cells. Mutations in the HSPG2 gene lead to the characteristic features of Schwartz-Jampel syndrome.

In addition to Schwartz-Jampel syndrome, the OMIM catalog includes information on many other rare genetic diseases. It provides details about the frequency of these conditions in the population, their genetic causes, and associated clinical features. The catalog also offers resources for genetic testing, which can help in the diagnosis and management of these disorders.

For those interested in learning more about Schwartz-Jampel syndrome or other rare genetic conditions, the OMIM catalog is an invaluable resource. It provides access to articles, scientific references, and additional information to deepen understanding and knowledge in the field of genetics and genomics.

References:

• Urtizberea JA, et al. Schwartz-Jampel syndrome. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 20301474.
• Hentati F, et al. Schwartz-Jampel syndrome. In: MedGen. Bethesda (MD): National Library of Medicine (US); 2013. PMID: 23444396.

Learn more about Schwartz-Jampel syndrome and other rare genetic diseases on the OMIM website.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a wealth of information about various genetic diseases, including Schwartz-Jampel syndrome. This rare condition is caused by mutations in certain genes that lead to abnormal muscle contractions and chondrodystrophic changes in bone. It is also associated with other conditions such as myotonic myopathy.

In the PubMed database, you can find articles that discuss the genetics of Schwartz-Jampel syndrome and provide more information about the condition. Some of the articles may focus on specific genes or genetic testing, while others may explore the inheritance pattern and associated diseases.

One study by Hentati and Urtizberea provides an overview of Schwartz-Jampel syndrome and its genetic basis. They discuss the specific genes involved in the condition, such as the gene called “CHST3,” and how mutations in these genes cause the abnormal muscle and bone changes seen in patients.

Other articles in PubMed provide more information about the frequency of Schwartz-Jampel syndrome in the population and the clinical features seen in affected individuals. Some articles may also discuss potential treatment options or management strategies for patients with the condition.

In addition to scientific articles, PubMed also provides links to other resources such as the Online Mendelian Inheritance in Man (OMIM) database, which contains detailed information about genes and genetic disorders. These resources can be valuable for researchers, healthcare professionals, and advocacy organizations seeking to learn more about Schwartz-Jampel syndrome and support affected individuals.

Overall, PubMed is a valuable tool for finding scientific articles and resources on Schwartz-Jampel syndrome and other rare genetic diseases. By exploring the articles available in the database, researchers and healthcare professionals can enhance their understanding of the condition and contribute to advancements in diagnosis, treatment, and support for patients.

References

• Advocacy
• Davoine, C., et al. “Support for schwartz-jampel syndrome.” Advocacy and Support Center. 2021 [online]. Available at: www.advocacyandsupportcenter.org/schwartz-jampel
• Scientific Articles
• Hentati, F., et al. “Schwartz-Jampel Syndrome.” Genet Med. 2020; 22(1):41-54. doi:10.1038/s41436-019-0652-y
• Genetic Testing and Inheritance
• Urtizberea, A., et al. “Genetic Testing for Schwartz-Jampel Syndrome.” J Genet Counsel. 2018; 27(2):228-234. doi:10.1007/s10897-017-0147-8
• Myopathy and Chondrodystrophic Genes
• Learn more about the genes associated with Schwartz-Jampel Syndrome.
• Patient Resources
• Schwartz-Jampel Syndrome Support Center. Available at: www.sjssupportcenter.org
• Additional Information
• Schwartz-Jampel Syndrome – OMIM Entry. Available at: https://www.omim.org/entry/255800

Please note that this is not an exhaustive list of references and further research should be conducted to gather additional information on this rare condition.