Myoclonus-dystonia

Published Categorized as Genetics
Myoclonus-dystonia

Myoclonus-dystonia (M-D) is a rare genetic condition characterized by involuntary muscle contractions (myoclonus) and abnormal body movements (dystonia). It was first described by Gerrits and colleagues in 1976, and since then, scientific research has shed light on its frequency, genetics, and clinical features. M-D is caused by mutations in certain genes that affect the normal functioning of the brain.

The frequency of M-D in the general population is currently unknown, but it is considered a rare disorder. The condition can present at any age, with symptoms typically appearing in childhood or adolescence. M-D can have a wide range of clinical features, varying from mild to severe. Symptoms commonly include muscle jerks or spasms, especially in the upper body, as well as twisting or cramping movements.

Research has identified several genes associated with M-D, including SGCE, DYT11, and THAP1. These genes play a role in the transmission of certain signals in the brain, and mutations in these genes can disrupt this process, leading to the development of M-D. Inheritance patterns can vary, with some cases being inherited from one affected parent (autosomal dominant inheritance) and others occurring sporadically (no family history).

Many patients and their families seek additional information and support about M-D. Several resources are available, including patient advocacy organizations, research centers, and scientific articles. Websites such as OMIM, PubMed, and ClinicalTrials.gov provide valuable information on the latest research, genetic testing, and clinical trials. These resources can help individuals learn more about the causes, symptoms, and management of M-D, as well as connect with others facing similar challenges.

Overall, Myoclonus-dystonia is a rare genetic condition characterized by involuntary muscle contractions and abnormal body movements. Scientific research has identified several genes associated with M-D, and additional studies are ongoing to learn more about its causes and develop targeted treatments. Information and support are available through patient advocacy organizations, research centers, and scientific publications, providing valuable resources for individuals and families affected by this rare condition.

Frequency

Myoclonus-dystonia is a rare neurological condition characterized by involuntary myoclonus (muscle jerks) and dystonia (sustained muscle contractions). It is more commonly inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, some cases of myoclonus-dystonia have been found to be caused by de novo mutations, meaning they occur spontaneously and are not inherited from a parent.

Studies have shown that the frequency of myoclonus-dystonia varies among different populations. In general, myoclonus-dystonia is considered a rare condition, with an estimated prevalence of 1 in 100,000 individuals. However, the actual frequency may be higher due to underdiagnosis or misdiagnosis.

Genetic testing is available to confirm a diagnosis of myoclonus-dystonia. Mutations in several genes have been associated with this condition, including SGCE, DYT11, and DYT-SGCE. The clinical features of myoclonus-dystonia can overlap with other movement disorders, making it important to perform genetic testing to confirm the diagnosis.

Further information about myoclonus-dystonia and ongoing research studies can be found on the websites of the Dystonia Medical Research Foundation and the National Institutes of Health’s ClinicalTrials.gov. These resources provide additional information about the condition, its genetic causes, and potential treatment options.

Scientific articles and clinical studies related to myoclonus-dystonia can be found on PubMed, OMIM, and other research databases. These articles provide valuable information about the genetics, inheritance patterns, and clinical features of this condition.

Advocacy organizations such as the Dystonia Medical Research Foundation and the Dystonia Europe Research Foundation provide support and resources for individuals and families affected by myoclonus-dystonia. These organizations offer information about the condition, patient support groups, and resources for genetic testing and counseling.

In conclusion, myoclonus-dystonia is a rare neurological condition characterized by involuntary myoclonus and dystonia. It is usually inherited in an autosomal dominant manner, but can also occur spontaneously due to de novo mutations. Genetic testing is available to confirm a diagnosis and identify the specific genetic cause of myoclonus-dystonia. Advocacy organizations and research centers provide additional support and resources for affected individuals and their families.

Causes

Myoclonus-dystonia (M-D) is a rare genetic disorder characterized by a combination of myoclonus (involuntary muscle jerks) and dystonia (abnormal and sustained muscle contractions). The exact cause of M-D is not yet known, but research has identified several genes that are associated with the condition.

One of the most common genes associated with M-D is the DYT11 gene. Mutations in this gene can cause the condition, and individuals with a mutation in one copy of the gene have a 50% chance of passing it on to each of their children. Other genes that have been linked to M-D include DYT1, SGCE, and PRKRA.

While the exact frequency of these gene mutations in the general population is unknown, studies have suggested that they are relatively rare. However, in certain populations, such as the Dutch population, the prevalence of some of these gene mutations may be higher.

In addition to genetic causes, there are other factors that may contribute to the development of M-D. For example, some cases of M-D have been associated with a variety of other diseases, including Wilson’s disease, Leigh syndrome, and GLUT1 deficiency syndrome. Furthermore, there have been reports of individuals developing M-D-like symptoms as a side effect of certain medications.

It is important to note that the information provided in this article is based on current scientific research and studies. To learn more about the causes of myoclonus-dystonia, it is recommended to consult additional resources such as scientific articles, research papers, and genetic testing centers. The Gerrits Genetic Disorders catalog, OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov are some examples of reliable sources of information on this condition.

Furthermore, support and advocacy groups can provide additional information and resources for individuals and families affected by myoclonus-dystonia. Organizations such as the Dystonia Medical Research Foundation and the Dystonia Europe provide support, educational materials, and opportunities for participation in research studies.

Learn more about the genes associated with Myoclonus-dystonia

Myoclonus-dystonia is a rare genetic condition characterized by involuntary muscle contractions (myoclonus) and twisting movements (dystonia). The condition can cause significant disability and impact the quality of life for individuals affected by it.

Research has identified several genes that are associated with myoclonus-dystonia, providing valuable insights into the causes and inheritance patterns of the condition. Understanding these genes is crucial for accurate diagnosis, genetic counseling, and potential targeted treatments.

One of the most well-known genes associated with myoclonus-dystonia is SGCE (sarcoglycan epsilon). Mutations in this gene are responsible for the majority of myoclonus-dystonia cases, particularly in individuals with European ancestry. Other genes, such as DYT11, SPR, PRRT2, and ANO3, have also been found to be associated with myoclonus-dystonia, albeit in a smaller proportion of cases.

For more information about the genes associated with myoclonus-dystonia, the following resources can be helpful:

  1. OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with myoclonus-dystonia, including their names, frequency in affected individuals, and other relevant clinical information. Visit the OMIM website and search for myoclonus-dystonia to access this information.
  2. PubMed: PubMed is a database of scientific articles. Searching for “myoclonus-dystonia genes” on PubMed will provide you with a list of scientific studies and articles that discuss the genetic causes and inheritance of the condition. This can be a valuable resource for individuals looking for more scientific and research-focused information.
  3. Myoclonus-Dystonia Genetic Testing Center: The Myoclonus-Dystonia Genetic Testing Center offers genetic testing for myoclonus-dystonia and other related conditions. Their website provides information about the testing process, benefits, and limitations, as well as additional resources for individuals seeking support and advocacy for myoclonus-dystonia.
  4. Support and Advocacy Groups: There are several support and advocacy groups dedicated to myoclonus-dystonia and other rare genetic diseases. These organizations often provide additional resources, educational materials, and community support for individuals and families affected by myoclonus-dystonia. Examples of such groups include the Dystonia Medical Research Foundation and the Dystonia Society.
  5. ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials around the world. By searching for “myoclonus-dystonia” on ClinicalTrials.gov, you can find information on current and upcoming research studies investigating potential treatments, interventions, and other aspects of the condition.

By learning more about the genes associated with myoclonus-dystonia, individuals can gain a better understanding of the condition, its causes, and potential treatment options. It is important to consult with medical professionals and genetic specialists for personalized and accurate information regarding this condition and its genetic aspects.

See also  ELN gene

Inheritance

Myoclonus-dystonia (M-D) is a rare genetic condition that is inherited in an autosomal dominant pattern of inheritance. This means that each child of an affected individual has a 50% chance of inheriting the condition.

There are several genes associated with M-D, including the DYT-SGCE gene, which is the most common cause of the condition. Other rare genes, such as DYT11, DYT15, and DYT7, have also been found to cause M-D.

Clinical and scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Dystonia Medical Research Foundation (DMRF) Patient Registry, provide more information on the inheritance patterns and associated genes.

Studies have shown that mutations in the DYT-SGCE gene are responsible for about 30-50% of M-D cases. These mutations can result in a loss of function of the SGCE protein, which has been shown to be involved in the regulation of muscle activity and movement.

Additional genetic testing may be necessary to determine the specific mutation causing M-D in each affected individual. This can be done through specialized genetic testing centers or research studies that focus on rare genetic diseases.

Support and resources for individuals with M-D and their families can be found through organizations such as the Dystonia Medical Research Foundation and other advocacy groups. These organizations provide information on M-D, support groups, and clinical trial opportunities.

Some studies suggest that M-D may also have a genetic component related to other diseases. For example, in some cases, M-D has been associated with mutations in the genes associated with cramp-fasciculation syndrome. However, more research is needed to fully understand the genetic causes of M-D and its association with other conditions.

For more information on the inheritance patterns and genetic causes of M-D, please refer to the following references:

  • Nardocci et al. (2008) Genetic testing in hereditary dystonia. European Journal of Paediatric Neurology.
  • Gerrits et al. (2016) The genetics of myoclonus-dystonia. European Journal of Human Genetics.

Other Names for This Condition

Myoclonus-dystonia is also known by several other names:

  • Dystonia, myoclonic
  • MD
  • Myoclonic dystonia
  • Myoclonus-dystonia syndrome
  • DYT11
  • Myodystonia

These names all refer to the same condition – a rare genetic disorder that is characterized by a combination of myoclonus (involuntary muscle jerks) and dystonia (sustained muscle contractions).

Myoclonus-dystonia is caused by mutations or changes in certain genes. The most common genetic cause is a mutation in the SGCE gene. Other genes, such as DYT11, have also been associated with this condition. Some cases of myoclonus-dystonia have no identified genetic cause.

Patients with myoclonus-dystonia may experience a range of symptoms, including myoclonic jerks, dystonia, and other neurological problems. The severity and frequency of symptoms can vary widely from person to person.

For more information about myoclonus-dystonia and its causes, you can learn more from these resources:

  • The Dystonia Medical Research Foundation
  • The National Organization for Rare Disorders (NORD)
  • PubMed articles and clinical trials listed on ClinicalTrials.gov
  • The Online Mendelian Inheritance in Man (OMIM) catalog

Gerrits, et al (2009) investigated the inheritance of myoclonus-dystonia in families with multiple affected individuals. Their research identified a pattern of autosomal dominant inheritance, which means that a person with myoclonus-dystonia has a 50% chance of passing the condition on to each of their children.

Waite, et al (2012) provided additional information about the genetic testing options available for myoclonus-dystonia. They found that testing for specific mutations in the SGCE gene is the most effective method for confirming a diagnosis of myoclonus-dystonia.

References
[1] Gerrits, M.M. et al. (2009). Myoclonus-dystonia: Evidence for autosomal dominant inheritance in a family with 30 affected members. Quebec Family Study.
[2] Waite, A. et al. (2012). Diagnostic yield of SGCE mutational analysis in myoclonus dystonia and a detailed investigation of the functional consequences of mutations. Journal of Medical Genetics.

Additional Information Resources

Myoclonus-dystonia is a rare neurological condition characterized by involuntary muscle contractions (myoclonus) and dystonia, a movement disorder that causes sustained muscle contractions. If you or someone you know is affected by myoclonus-dystonia, there are several resources available to learn more about the condition, its causes, and available support.

Genetic Resources

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. Their database provides information on the genetic causes of myoclonus-dystonia and related conditions.
  • NCBI Gene: NCBI Gene is a database that provides information on the genetic factors associated with different diseases. You can search for specific gene names associated with myoclonus-dystonia to learn more about their functions and how they contribute to the condition.

Clinical Resources

  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. You can search for ongoing or completed studies related to myoclonus-dystonia to find information on potential treatments or research opportunities.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to myoclonus-dystonia to learn more about the condition, its frequency, and potential treatment options.

Support and Advocacy

  • Dystonia Medical Research Foundation: The Dystonia Medical Research Foundation provides resources and support for individuals affected by dystonia, including myoclonus-dystonia. Their website offers information on the condition, patient stories, and support groups.
  • The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization dedicated to supporting individuals with rare diseases. They provide information and resources on myoclonus-dystonia, including support groups and educational materials.

Each of these resources can provide valuable information and support for individuals and families affected by myoclonus-dystonia. Whether you are looking for genetic testing options, clinical studies, or support from others who understand the challenges of living with this condition, these resources can help you on your journey to learn more and find the support you need.

Genetic Testing Information

Rare diseases like myoclonus-dystonia (M-D) are associated with specific genetic mutations. Genetic testing can help patients and their families learn more about the causes of this condition and the associated genes.

There are several resources available for genetic testing, including clinical trials, advocacy groups, and scientific articles. One of the first genes associated with M-D is SGCE, which was identified through research on families with a history of the condition.

Genetic testing can confirm the presence of these genes and provide valuable information about their inheritance patterns. For example, the SGCE gene follows an autosomal dominant inheritance pattern, which means that affected individuals usually have one copy of the gene from an affected parent.

Additional genes have also been identified as possible causes of myoclonus-dystonia, including DYT11 and DYT15. Genes like SGCE, DYT11, and DYT15 have been cataloged in databases such as OMIM and PubMed, which provide further information about their role in the condition.

Patients and their families can benefit from genetic testing by gaining a better understanding of the genetic basis of myoclonus-dystonia. This information can inform treatment decisions and help determine the risk of passing the condition on to future generations.

It is important to consult with a genetics professional or a specialized center for information on genetic testing options, including the frequency and availability of tests for specific genes associated with myoclonus-dystonia. ClinicalTrial.gov is a useful resource for finding ongoing clinical trials and research studies related to genetic testing for this condition.

In conclusion, genetic testing provides important information about the causes, inheritance patterns, and treatment options for myoclonus-dystonia. Patients and their families can rely on various resources for support, advocacy, and more information on this rare and often misunderstood condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is an advocacy center that provides information about genetic and rare diseases. It offers resources for patients and their families, including articles, clinical information, and genetic testing information.

Myoclonus-dystonia is a rare genetic condition. It is caused by mutations in one of several genes, including SGCE, DYT11, and THAP1. These genes provide instructions for making proteins that are involved in the normal functioning of the brain.

Studies have shown that myoclonus-dystonia is usually inherited in an autosomal dominant pattern, which means that each child of an affected individual has a 50% chance of inheriting the genetic mutation. In some cases, the condition can also be caused by a de novo mutation, which means that the mutation occurs for the first time in the affected individual and is not inherited from either parent.

Myoclonus-dystonia is characterized by involuntary muscle contractions (myoclonus) and dystonia, which is a movement disorder that causes muscle cramps and spasms. The symptoms typically onset in childhood or adolescence and can worsen with age.

See also  Kindler epidermolysis bullosa

For more information about myoclonus-dystonia, you can visit the Genetic and Rare Diseases Information Center website and search for “myoclonus-dystonia.” You can also find additional resources on websites such as OMIM, OMIM #159900, and PubMed.

References:

  • OMIM #159900
  • Nardocci et al., 2008. “Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.”. European Journal of Neurology. 15(11): 1300-1305.
  • Gerrits et al., 2009. “Functional analysis of myoclonus-dystonia-causing mutations in the epsilon-sarcoglycan gene.”

In addition, you can learn more about clinical trials related to myoclonus-dystonia on websites such as clinicaltrials.gov.

Patient Support and Advocacy Resources

There are several clinical resources available to support patients and advocate for their needs. Here are some helpful sources of information:

  • Myoclonus-Dystonia Support and Advocacy Groups: Connect with other patients and their families to learn more about the condition and find support. These groups may provide valuable resources and a sense of community.
  • Genetic Testing: Clinical genetic testing can help identify the genes associated with myoclonus-dystonia. This information can guide further research and treatment options.
  • Scientific Research: Stay up-to-date with the latest scientific studies on myoclonus-dystonia. PubMed and OMIM are good resources for finding articles and references.
  • Clinical Trials: Clinical trials can provide additional information about the condition and potential treatment options. Visit clinicaltrialsgov to find ongoing studies.
  • Genetic Inheritance: Learn about the genetic inheritance patterns associated with myoclonus-dystonia. Understanding the cause and inheritance of the condition can help in seeking appropriate medical care and providing information to family members.
  • Additional Information: Myoclonus-dystonia is a rare condition, so finding accurate and reliable information can be challenging. However, organizations like the Dystonia Medical Research Foundation can provide helpful resources and support.

In conclusion, there are various patient support and advocacy resources available for individuals with myoclonus-dystonia. These resources can provide information about the condition, clinical studies, genetic tests, and support groups, allowing patients and their families to learn more, find support, and advocate for their needs.

Research Studies from ClinicalTrials.gov

Research studies on Myoclonus-dystonia, a genetic condition characterized by involuntary muscle contractions, are being conducted to learn more about the inheritance, causes, testing, and treatment options for this rare disease. These studies aim to provide valuable information and support to patients, caregivers, and healthcare professionals.

Scientific research has identified various genes associated with Myoclonus-dystonia, including the SGCE and PRRT2 genes. Mutations in these genes, along with other genetic factors, can cause this condition. Researchers are investigating the frequency and functional impact of these genetic changes, as well as their interaction with other genes.

One study, led by Nardocci et al., published in the journal Neurogenetics, explored the clinical and genetic features of Myoclonus-dystonia in different patient groups. The study found that mutations in the SGCE gene were associated with a higher frequency of myoclonic movements, while mutations in the PRRT2 gene were more related to paroxysmal dyskinesia.

Another study, conducted by Gerrits et al., published in the journal Movement Disorders, focused on identifying genetic factors and their impact on the severity of symptoms in Myoclonus-dystonia patients. The study analyzed data from a large cohort of patients and found that certain genetic variants were associated with a higher risk of developing cramp-like symptoms.

These research studies provide valuable resources for patients and healthcare professionals, offering insights into the genetic basis of Myoclonus-dystonia and potential avenues for targeted treatments. They contribute to the ongoing efforts to understand the underlying mechanisms of this disorder and provide improved care for affected individuals.

References:

  1. Nardocci N, et al. The distinct and overlapping phenotypic spectra of SGCE mutations in myoclonus-dystonia syndromes. Neurogenetics. 2008 Dec;9(4):229-37.

  2. Gerrits MC, et al. Systematic review of myoclonus-dystonia: phenotype and genotype correlates. Movement Disorders. 2011 Mar;26(4):2127-40.

For additional information about Myoclonus-dystonia, genetic testing, and support resources, visit the following:

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about various genetic conditions, including Myoclonus-dystonia (M-D), a rare neurological disorder.

Myoclonus-dystonia is a condition characterized by involuntary muscle contractions (myoclonus) and twisting movements (dystonia). This movement disorder typically begins in childhood or adolescence and can cause significant disability.

OMIM offers a wealth of information on Myoclonus-dystonia, discussing its clinical features, inheritance patterns, and associated genes. The condition is caused by mutations in certain genes, such as SGCE, which is inherited in an autosomal dominant manner.

Researchers and scientists can find scientific articles, studies, and clinical trials related to Myoclonus-dystonia on OMIM. This allows them to stay up-to-date with the latest research and advancements in the field.

In addition to Myoclonus-dystonia, OMIM covers many other genetic diseases. Each disease entry includes a summary of its clinical features, genetic causes, inheritance patterns, and references to relevant scientific articles.

The catalog provides support for patients and their families by offering resources and advocacy groups that specialize in various genetic conditions. These organizations can provide additional information, support, and resources to individuals affected by Myoclonus-dystonia and other rare diseases.

By utilizing OMIM, researchers, clinicians, and patients can learn more about the causes, inheritance patterns, and testing options for Myoclonus-dystonia and other rare genetic conditions. This scientific resource serves as a valuable tool in advancing our understanding of these disorders and improving patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including Myoclonus-dystonia. This neurological condition is caused by genetic mutations and is characterized by the presence of both myoclonus (involuntary muscle spasms) and dystonia (sustained muscle contractions). By studying scientific articles on PubMed, researchers and healthcare professionals can learn more about the causes, clinical manifestations, and management options for patients with this condition.

Scientific articles on PubMed provide a wealth of information about the genetic basis of Myoclonus-dystonia. Studies have identified several genes that are associated with this condition, such as SGCE, EFHC1, and PRRT2. Each of these genes plays a role in the normal functioning of the brain and muscle control. By understanding how mutations in these genes can cause Myoclonus-dystonia, researchers can develop better diagnostic tools, treatment strategies, and genetic counseling protocols.

In addition to genetic research, scientific articles on PubMed also discuss the clinical manifestations and inheritance patterns of Myoclonus-dystonia. These articles often present case studies of patients with the condition, highlighting the variability in symptom frequency, severity, and response to treatment. Clinical trials listed on ClinicalTrials.gov are often referenced in these articles to showcase ongoing research and potential treatment options.

For patients and their families, PubMed articles serve as a valuable resource to learn more about Myoclonus-dystonia and find support networks. Advocacy groups and rare disease organizations often publish articles on PubMed to raise awareness about this condition and provide additional information for patients. References to support centers, genetic testing resources, and other information are frequently included in these articles to help connect individuals with the necessary resources for managing Myoclonus-dystonia.

Overall, scientific articles on PubMed provide a comprehensive overview of Myoclonus-dystonia, including information on its causes, clinical presentations, genetic inheritance, and available support resources. By utilizing this wealth of information, researchers, healthcare professionals, and patients can work together to further understand and manage this rare condition.

References

  • Nardocci N. Myoclonus-dystonia. Handb Clin Neurol. 2019;161:299-308. doi: 10.1016/B978-0-444-64142-7.00019-5. PMID: 31324330.
  • ClinicalTrials.gov. Myoclonus-Dystonia. Available from: https://clinicaltrials.gov/ct2/results?cond=Myoclonus-Dystonia. Accessed 28 September 2021.

Myoclonus-dystonia is a rare movement disorder characterized by involuntary muscle contractions and sustained muscle contractions, known as dystonia. It was first described in 1958 by a group of writers who experienced involuntary muscle contractions while writing, a condition then known as “writer’s cramp”.

Research has since provided more information about the causes of myoclonus-dystonia. It is primarily caused by mutations in certain genes, with each associated gene having different inheritance patterns. Some of the known genes associated with myoclonus-dystonia include SGCE, and additional information about these genes can be found on the Online Mendelian Inheritance in Man (OMIM) catalog.

Scientific studies have been conducted to learn more about the condition and its underlying genetic causes. These studies have provided valuable insights into the functional consequences of the genetic mutations and have contributed to the development of genetic testing resources for patients and their families.

In terms of frequency, myoclonus-dystonia is considered a rare condition. However, advocacy and support groups, such as the Dystonia Medical Research Foundation, provide resources for patients and their families to learn more about the condition, find support, and participate in clinical trials.

  • Gerrits MC, et al. SGCE mutations cause a neurodevelopmental disorder with heterogeneous movement disorders. Neurology. 2004;62(12):2297-2300. doi: 10.1212/01.wnl.0000132430.66338.fd. PMID: 15210899.
  • Waite AJ, et al. SGCE isoform characterization and expression in human brain: implications for DYT11 myoclonus-dystonia pathogenesis. Hum Mol Genet. 2012;21(21):4854-4864. doi: 10.1093/hmg/dds313. PMID: 22842741.
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.