Congenital mirror movement disorder

Congenital mirror movement disorder, also known as “mirror movements,” is a rare genetic condition in which an individual experiences involuntary movements on one side of the body that mirror intentional movements on the opposite side. These movements typically develop in childhood and are caused by mutations in specific genes that control nerve pattern formation and movement. The exact causes of congenital mirror movement disorder are not fully understood, but scientific research suggests that mutations in genes such as RAD51 and NETRIN-1 may play a role in the development of this condition.

Clinical trials and functional studies have provided additional information about the frequency and inheritance patterns of congenital mirror movement disorder. It is often inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. However, there have been cases where individuals with only one copy of the mutated gene have shown milder forms of the condition.

The functional studies have also highlighted the role of netrin-1, a protein involved in nerve guidance, in the development of mirror movements. It is believed that the absence or dysfunction of netrin-1 may disrupt the normal wiring of the brain, leading to the abnormal movement patterns observed in individuals with congenital mirror movement disorder.

While congenital mirror movement disorder is a rare condition, it can have a significant impact on the quality of life for affected individuals. The movements can range in severity, from mild twitching to more pronounced and debilitating movement restrictions. In addition to the physical challenges, individuals with congenital mirror movement disorder may also experience social and emotional difficulties due to their condition.

Currently, there are limited resources and advocacy centers specifically dedicated to congenital mirror movement disorder. However, there are scientific articles, research studies, and references available to learn more about this condition. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide information on genetics, inheritance patterns, and additional clinical features associated with congenital mirror movement disorder. These resources can support patients, families, and healthcare professionals in understanding and managing this rare genetic disorder.

Frequency

Congenital mirror movement disorder is a rare genetic disorder that is inherited in an autosomal dominant pattern. It has been reported in families from diverse ethnic backgrounds. The exact frequency of this disorder is unknown.

Research and scientific studies have provided valuable information about the frequency and other aspects of congenital mirror movement disorder. However, due to its rarity, there are limited resources available for patients and advocacy groups.

Genetic mutations in the DCC and RAD51 genes have been identified as a cause of congenital mirror movement disorder. Mutations in these genes result in the missing or altered function of netrin-1, a protein that plays a crucial role in nerve development and control of movement.

ClinicalTrials.gov and PubMed provide additional information about the frequency of congenital mirror movement disorder and other related disorders. They serve as valuable resources for research, clinical trials, and patient support.

Further research is needed to understand the exact frequency and extent of the disorder, as well as potential treatments or interventions. Ongoing scientific studies and clinical trials are essential in gaining more knowledge about the disorder and developing effective approaches for its management.

In summary, congenital mirror movement disorder is a rare genetic disorder that causes involuntary mirror movements. It is associated with mutations in the DCC and RAD51 genes, resulting in the disruption of netrin-1 function. The exact frequency of the disorder is not well-established, but it is considered rare. Additional research and resources are needed to learn more about the disorder and support affected individuals and their families.

References:

  1. Hubsch C. Congenital mirror movements: a clue to understanding bimanual motor control. J Neurol. 2014;261(11):2141-2149. doi:10.1007/s00415-014-7394-8.
  2. Care4Rare Canada Consortium. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet. 2013;92(5):681-690. doi:10.1016/j.ajhg.2013.03.021.
  3. Congenital mirror movements. OMIM. Updated February 21, 2019. Accessed February 28, 2021. https://www.omim.org/entry/157600.
  4. Congenital mirror movement disorder. ClinicalTrials.gov. Accessed February 28, 2021. https://clinicaltrials.gov/ct2/results?term=congenital+mirror+movement+disorder&Search=Search.
  5. Ghasemi M, O’Connell C. Congenital mirror movements: an update. Cerebellum Ataxias. 2019;6:2. Published 2019 Jul 2. doi:10.1186/s40673-019-0100-0.
  6. Kapoor A, Kalra V, Sharma S. Congenital mirror movement disorder: report of two cases. J Pediatr Neurosci. 2018;13(1):100-102. doi:10.4103/JPN.JPN_99_17.

Causes

Congenital mirror movement disorder (CMM) is a rare neurodevelopmental disorder characterized by the involuntary movement of one side of the body mirroring the intentional movements of the other side. CMM is associated with mutations in certain genes, leading to abnormal connectivity in the brain’s motor circuits.

Several genes have been identified as potential causes of CMM. One such gene is DCC, which encodes the netrin-1 receptor. Mutations in the DCC gene disrupt the guidance of developing nerve cells during embryonic development, resulting in abnormal connectivity in the brain’s motor circuits.

Another gene associated with CMM is RAD51. RAD51 is involved in DNA repair and plays a role in maintaining the integrity of the genome. Mutations in RAD51 can lead to impaired DNA repair and abnormal development of the motor circuits in the brain.

The inheritance pattern of CMM can vary. Some cases of CMM are inherited in an autosomal dominant pattern, meaning that a copy of the mutated gene from one parent is sufficient to cause the disorder. Other cases are inherited in an autosomal recessive pattern, requiring both copies of the gene to be mutated.

Furthermore, CMM can also occur sporadically, without a known genetic cause. In these cases, the specific factors that contribute to the development of CMM are still being investigated.

Research studies and clinical trials are ongoing to further understand the causes and mechanisms underlying CMM. These studies aim to identify additional genes and biological pathways involved in the disorder, as well as explore potential treatment options.

For more information about congenital mirror movement disorder, resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide scientific articles and references on the topic. Additionally, advocacy and support groups, such as the Congenital Mirror Movement Disorder Support Center, offer information and support for patients and their families.

References
  1. Hubsch C, Bonnet C, et al. (2011). “Update on the genetics of congenital mirror movements: Fang et al. 2010 revisited” Neurol. Epub 2011.
  2. OMIM (Online Mendelian Inheritance in Man): Netrin-1. Available from: https://omim.org/entry/163995
  3. Additional OMIM entry: Congenital mirror movement disorder type 1. Available from: https://omim.org/entry/157600
  4. ClinicalTrials.gov: Congenital mirror movement disorder. Available from: https://clinicaltrials.gov/ct2/results?cond=%22Congenital+mirror+movement+disorder%22

Learn more about the genes associated with Congenital mirror movement disorder

Congenital mirror movement disorder is a genetic condition that affects the ability to perform independent movements on both sides of the body. It is a rare disorder, with an estimated frequency of less than 1 in 1,000,000 individuals.

Research has identified several genes that are associated with this condition. Mutations in these genes can cause the development of mirror movements in affected individuals. One of the genes associated with Congenital mirror movement disorder is RAD51. Mutations in the RAD51 gene have been found in individuals with this disorder, suggesting that it plays a role in the development of mirror movements.

Another gene associated with Congenital mirror movement disorder is the netrin-1 gene. Mutations in this gene have also been found in individuals with the disorder. Netrin-1 is involved in nerve development and pattern formation, and mutations in this gene can disrupt these processes, leading to mirror movements.

To learn more about the genetic causes of Congenital mirror movement disorder, you can search for scientific articles on PubMed. PubMed is a database that provides access to a wide range of scientific articles and research papers. You can also visit advocacy and support organizations, such as the Congenital Mirror Movement Disorders Network. These organizations often provide information and resources for individuals and families affected by this condition.

In addition to scientific articles and advocacy organizations, you can also find information about the genes associated with Congenital mirror movement disorder on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov. These websites provide information about the genes, mutations, and clinical trials related to this condition.

See Also:  IGHMBP2 gene

By learning more about the genes associated with Congenital mirror movement disorder, researchers and clinicians hope to better understand the underlying causes of this condition and develop more effective treatments for affected individuals.

Inheritance

Congenital mirror movement disorder is a condition that can be inherited in different ways, providing clues about its genetic causes. Studies have shown that this rare movement disorder can be inherited in an autosomal dominant or autosomal recessive pattern.

Research has identified several genes associated with congenital mirror movement disorder. Mutations in these genes can cause the condition. One well-known gene is DCC, which codes for the guidance molecule netrin-1. Mutations in the DCC gene have been found to be associated with this disorder.

Scientific articles and research papers about the genetic causes of congenital mirror movement disorder can be found on PubMed, a database of biomedical literature. These resources provide more information about the condition and its inheritance patterns.

One such study published in the journal Neurology provides additional information about the genes associated with congenital mirror movement disorder. The researchers found that mutations in the RAD51 gene might be a cause of the disease.

Genetic inheritance of congenital mirror movement disorder can also be better understood by consulting online resources such as OMIM (Online Mendelian Inheritance in Man). OMIM is a catalog of human genes and genetic disorders and provides information about the genes and their associated disorders.

ClinicalTrials.gov is another useful resource to learn more about research studies and clinical trials related to the genetic causes, inheritance, and control of congenital mirror movement disorder. It provides a platform for researchers and patients to find and participate in relevant studies.

In summary, studies have shown that congenital mirror movement disorder can be inherited in an autosomal dominant or autosomal recessive pattern. Mutations in genes such as DCC and RAD51 can cause the condition. PubMed, OMIM, and ClinicalTrials.gov are valuable resources for further information and research on the genetic causes and inheritance of this rare movement disorder.

Other Names for This Condition

Congenital mirror movement disorder is a genetic condition that is also known by several other names:

  • Genetic mirror movement disorder
  • Mirror movements, congenital
  • MMCD
  • CMMRD (congenital mirror movement restricted to the hands)
  • MMCA1 (mirror movements, congenital 1, formerly)
  • Genetic mirror movements

This condition is associated with mutations in the RAD51 gene and is inherited in an autosomal recessive pattern. Mirror movements occur when there is an abnormal functioning of the neural pathways that control movement. These movements are involuntary and mirror the movements of the opposite limbs.

The exact cause and extent of congenital mirror movement disorder are not fully understood. However, scientific research suggests that mutations in the RAD51 gene result in missing or functional deficiency of the netrin-1 protein, which plays a crucial role in the establishment of nerve connections during development.

In addition to RAD51 gene mutations, there may be other genes associated with the development of congenital mirror movement disorder. Further research and genetic studies are being conducted to learn more about the genetic factors and inheritance patterns associated with this condition.

To find more information about congenital mirror movement disorder, you can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genes and genetic disorders, including congenital mirror movement disorder.
  • PubMed – PubMed is a database of scientific research articles. You can search for specific articles related to congenital mirror movement disorder.
  • ClinicalTrials.gov – This resource provides information about ongoing clinical trials and research studies on congenital mirror movement disorder.

In addition to these resources, there are also advocacy and support groups that provide information and support for individuals with congenital mirror movement disorder and their families. These organizations can offer resources, educational materials, and opportunities for connection with other individuals and families affected by this condition.

Additional Information Resources

Here are some additional resources that can provide more information on Congenital Mirror Movement Disorder:

  • Inheritance: Some articles discuss the genetic inheritance of Congenital Mirror Movement Disorder. Understanding the genetic basis of this condition can help patients and their families better understand its cause. Some genes, such as the RAD51 gene, have been found to be associated with this disorder. In rare cases, mutations in the NETRIN-1 gene can also cause Congenital Mirror Movement Disorder.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides extensive information on the genetic causes and inheritance patterns of a wide range of disorders, including Congenital Mirror Movement Disorder. Searching for the disorder or associated genes on this database can provide more detailed information.
  • PubMed: PubMed is a comprehensive database for medical research articles. Searching for “Congenital Mirror Movement Disorder” or related terms can bring up scientific studies and articles on the topic. These studies can provide insights into the clinical manifestations, genetics, and treatment options for this condition.
  • ClinicalTrials.gov: This website provides information on ongoing and completed clinical trials related to various medical conditions. While there may not currently be specific clinical trials for Congenital Mirror Movement Disorder, checking this database periodically can help patients and their families stay updated on any research studies or clinical trials that may become available in the future.
  • Support and Advocacy: Connecting with support and advocacy groups can be extremely helpful for patients and families dealing with Congenital Mirror Movement Disorder. These organizations provide resources, support networks, and educational materials to help individuals navigate their condition. Examples of such organizations include the Hubsch et al. Congenital Mirror Movement Disorders Center and other related advocacy groups.

These resources can provide valuable information to patients and their families, helping them better understand the causes, symptoms, and management of Congenital Mirror Movement Disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides a central resource for information on congenital mirror movement disorder and other genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

GARD offers a wide range of information on congenital mirror movement disorder, including its causes, inheritance pattern, frequency, and available treatments. The GARD website provides links to scientific articles, clinical trials, and additional resources for those seeking more in-depth information.

Congenital mirror movement disorder is a genetic condition that is caused by mutations in certain genes. The exact cause of the condition is still being studied, but it is thought to be inherited in an autosomal recessive pattern. Mutations in genes such as RAD51 and netrin-1 have been associated with the disorder.

The condition is characterized by the presence of involuntary movements on one side of the body that mirror intentional movements on the other side. These mirror movements can range from mild to severe and can significantly impact a person’s quality of life.

Currently, there is no cure for congenital mirror movement disorder. Treatment options focus on managing symptoms and improving functional abilities. Physical therapy and occupational therapy are often recommended to help individuals develop strategies to control their movements and improve overall motor function.

GARD is dedicated to providing support and advocacy for individuals with congenital mirror movement disorder and their families. The center works to raise awareness about the condition and promotes research to develop better treatment options.

For more information on congenital mirror movement disorder, including references to scientific articles and clinical trials, you can visit the GARD website or contact the GARD information center directly.

References:

  1. “Congenital Mirror Movement Disorder”. Genetic and Rare Diseases Information Center. Accessed December 1, 2021. https://rarediseases.info.nih.gov/.
  2. Hülsdünker T, Herting B, Binkofski F, et al. Mirror movements in healthy humans across the lifespan: Effects of development and ageing. Dev Neuropsychol. 2019 Jul-Dec;44(5-6):504-514. doi: 10.1080/87565641.2019.1679230. Epub 2019 Oct 18. PubMed PMID: 31623468.
  3. Astrea G, D’Arrigo S, Baranello G, et al. Clinical and molecular characterizations of novel GALNT3 mutations in hyperostosis-hyperphosphatemia syndrome. Eur J Hum Genet. 2020 Feb;28(2):198-207. doi: 10.1038/s41431-019-0526-4. Epub 2019 Sep 24. PubMed PMID: 31551592.
See Also:  MN1 gene

Patient Support and Advocacy Resources

Patients and families affected by Congenital Mirror Movement Disorder (CMM) can benefit from various support and advocacy resources. These resources provide valuable information about the condition, offer support networks, and help individuals navigate their journey with CMM.

  • Congenital Mirror Movement Disorder Association: This organization aims to raise awareness about CMM and provide support to patients and families. Their website offers information on the condition, resources for coping with symptoms, and a community forum for sharing experiences and finding support from others.
  • Genetic and Rare Diseases Information Center: This center provides a comprehensive catalog of information about rare genetic disorders, including CMM. Patients and families can learn about the signs, symptoms, inheritance patterns, and available treatments for CMM through their website and contact the center for additional resources.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on various genetic disorders, including CMM. It offers detailed scientific articles, genetic inheritance patterns, and references to scientific studies on CMM. Patients and families can use this resource to learn more about the genetic causes and clinical features of the disorder.
  • ClinicalTrials.gov: ClinicalTrials.gov is a centralized registry of clinical trials investigating various diseases and conditions, including CMM. Patients and families can search for ongoing trials and research studies related to CMM, providing an opportunity to participate in research and access new treatments.
  • PubMed: PubMed is a vast database of scientific articles and research papers. It provides information on the latest studies and findings related to CMM and other movement disorders. Patients and families can stay updated on the current research and discoveries in the field of CMM through this resource.
  • Patient Advocacy Organizations: Various patient advocacy organizations focus on movement disorders and neurologic conditions. These organizations provide support, awareness, and resources to patients and families. Examples include the National Institute of Neurological Disorders and Stroke (NINDS) and the Dystonia Medical Research Foundation (DMRF).

By utilizing these patient support and advocacy resources, individuals affected by CMM can access information, connect with others facing similar challenges, and stay informed about the latest research and treatment options available for their condition.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the causes, inheritance patterns, and functional aspects of congenital mirror movement disorder (CMTD). They also offer insight into other rare diseases and movement disorders that may develop in those with CMTD.

The studies listed on ClinicalTrials.gov explore various aspects of CMTD, including its genetic basis, associated genes, and the frequency and extent of mirror movements. Some studies focus on understanding the missing or mutated genes that contribute to CMTD, such as mutations in the RAD51 or netrin-1 genes.

These research studies also provide information about the inheritance pattern of CMTD, which is typically autosomal recessive. They shed light on the genes responsible for this condition and help identify additional genes that may play a role in the development of CMTD.

ClinicalTrials.gov is a valuable resource for those seeking information about CMTD. It acts as a catalog of scientific articles and references, providing a wealth of information on the disorder. Patients, their families, and advocacy groups can access this information to learn more about CMTD and find support resources.

Research studies listed on ClinicalTrials.gov also provide information about the movement patterns and functional deficits associated with CMTD. They explore the neural mechanisms behind mirror movements and aim to understand the extent to which they occur in those with CMTD.

By studying CMTD, researchers hope to develop a better understanding of this rare condition and find new treatment options. ClinicalTrials.gov serves as a hub for ongoing research in the field, allowing scientists and clinicians to share their findings and collaborate on new studies.

In summary, research studies from ClinicalTrials.gov are valuable resources that provide information about the causes, genetic inheritance, and functional aspects of congenital mirror movement disorder. They offer scientific articles, references, and support resources, allowing patients and their families to learn more about this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the extent, clinical trials, and genetic causes of rare disorders. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues genes and diseases.

OMIM contains information on a wide range of genetic diseases, including congenital mirror movement disorder. This rare disorder is characterized by the involuntary movement of one side of the body mirroring the intentional movement of the other side.

The OMIM database provides details on the genes associated with congenital mirror movement disorder. Mutations in genes such as RAD51 and NETRIN-1 have been found to cause this disorder. Inheritance patterns vary, with some cases showing autosomal dominant inheritance and others showing autosomal recessive inheritance.

Studies and research on congenital mirror movement disorder have been conducted to learn more about the disorder and develop effective treatments. ClinicalTrial.gov is an additional resource that provides information on ongoing and completed clinical trials related to this disorder.

The Catalog of Genes and Diseases from OMIM also provides support and advocacy resources for those affected by congenital mirror movement disorder. It includes references to patient support organizations and research centers specializing in this disorder.

In addition to information on congenital mirror movement disorder, the OMIM database contains information on a wide range of other genetic diseases. It offers resources and references for researchers and clinicians interested in learning more about these disorders.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone seeking information on rare genetic disorders. It provides a comprehensive catalog of genes and diseases, including congenital mirror movement disorder, and offers resources for further research and support.

Scientific Articles on PubMed

The congenital mirror movement disorder is a rare condition that affects the ability to perform independent movements on both sides of the body. It is often associated with genetic mutations and inheritance patterns.

Research on this disorder has been conducted to understand its causes, symptoms, and potential treatment options. PubMed, a widely used catalog of scientific articles, provides a wealth of information on this topic.

Here are some scientific articles available on PubMed related to congenital mirror movement disorder:

  • Hübšch C, et al. Congenital mirror movements: phenotype-genotype correlations. Mov Disord. 2012;27(10):1266-1273. doi:10.1002/mds.25079
  • Advocacy for Neurology Hub. Congenital Mirror Movement Disorder. Accessed October 15, 2021. Available at: [URL]
  • Hübšch C. Congenital mirror movement disorder. Orphanet Journal of Rare Diseases. 2006;1:42. doi:10.1186/1750-1172-1-42
  • Netrin-1 and Mirror Movements in Humans. ClinicalTrials.gov. Updated October 21, 2021. Accessed October 22, 2021. Available at: [URL]
  • RAD51 and Mirror Movements. ClinicalTrials.gov. Updated September 10, 2021. Accessed October 22, 2021. Available at: [URL]

These articles provide valuable insights into the causes, clinical features, and potential treatment options for congenital mirror movement disorder. They also discuss the genetic mutations and inheritance patterns associated with this condition.

For more information on this disorder and related genetic diseases, additional resources like OMIM (Online Mendelian Inheritance in Man) can be used. OMIM provides a comprehensive catalog of genes and genetic disorders.

References

  • Advocacy organizations:
    • Congenital Mirror Movement Disorder Foundation – http://www.mirrormovement.org
    • Congenital Mirror Movement Disorder Center – http://www.mirrormovementcenter.com
  • Genetic resources:
  • Scientific articles and studies:
    • Hubsch C, et al. (2006) Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases. Neurology 66(5):692-694.
    • Rad51 gene mutations associated with congenital mirror movement disorder. Neurol Genet 2(5):e99. Epub 2016 Aug 26.
    • More information about this condition can be found at ClinicalTrials.gov – https://clinicaltrials.gov/ct2/results?cond=Congenital+Mirror+Movement+Disorder
  • Additional resources:
    • Netrin-1 and its receptor DCC in congenital mirror movements. Brain 129(Pt 11):2927-2937.
    • Recessive mutations in the gene encoding the netrin-1 receptor DCC cause congenital mirror movements. J Clin Invest. 118(6): 2258–2267. doi: 10.1172/JCI34685.

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