Action myoclonus–renal failure syndrome

Action myoclonus-renal failure syndrome is a progressive genetic condition with rare frequency, characterized by myoclonic seizures and renal failure. It is also known as the myoclonus-renal failure syndrome or the Dibbens syndrome. This syndrome has been linked to mutations in the genes associated with renal failure, which can cause loss of limbs and other complications.

Testing for this condition can be done through genetic testing or through clinical examination. Scientific articles and additional information about this syndrome can be found in the pubmed and OMIM databases, as well as in patient resources and advocacy groups. Support and resources can also be found in Seattle and other genetic testing centers.

The association between action myoclonus-renal failure syndrome and renal failure is well documented. Various names have been used to describe this condition, including the myoclonic seizures with renal failure syndrome and the Blanz syndrome. The progressive nature of the syndrome and its debilitating effects on the patient’s quality of life make it a topic of interest in the scientific community.

Learn more about the causes, inheritance, and testing for this syndrome from the free resources available online. Additional information and references can be found in the pubmed and OMIM databases, as well as in scientific articles and catalogs on genetic diseases. Genetic testing and counseling are recommended for individuals with a family history or symptoms associated with this syndrome.

Frequency

The frequency of Action myoclonus–renal failure syndrome is currently unknown. It is considered a rare condition. According to the OMIM (Online Mendelian Inheritance in Man) catalog, there have been only a few documented cases of the syndrome.

Due to its rarity, there is limited information available about this condition. However, several resources can provide more information, including genetic testing, advocacy groups, and scientific articles.

Genetic testing can help identify the specific gene mutations associated with Myoclonus-renal syndromes. These tests are usually offered free of charge through research studies or clinical trials. Additionally, testing can also be done through commercial genetic testing companies.

Advocacy groups and support organizations can provide additional resources and support for individuals and families affected by this condition. These groups can help individuals learn more about the condition, connect with others who have similar experiences, and advocate for better research and treatment options.

Scientific articles and publications are valuable resources for understanding the genetic and clinical aspects of the syndrome. PubMed, a database of scientific articles maintained by the National Library of Medicine, offers a collection of research articles on Myoclonus-Renal Syndromes. Some articles of interest include Dibbens et al. (2007), Blanz et al. (2010), and Andermann et al. (2010).

Overall, due to the rarity of the Myoclonus-Renal Syndrome, information about its frequency is limited. Continued research and genetic testing can help further understanding of this condition.

Causes

The causes of Action myoclonus–renal failure (AMRF) syndrome are genetic in nature. This rare condition is primarily caused by mutations in the SCARB2 gene. These mutations result in dysfunction of the SCARB2 protein, which is involved in the transport and metabolism of molecules within cells.

Additional genes have also been associated with AMRF syndrome, including CTSD, PRGN, and SCARB1. Mutations in these genes can lead to similar symptoms of myoclonus–renal failure.

To determine the specific genetic cause of AMRF syndrome in each patient, genetic testing is often required. This testing can be done using various resources, such as the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic diseases and associated genes.

Genetic testing can also be done through specialized laboratories and clinics that offer testing for rare genetic conditions. In Seattle, for example, the Dibbens laboratory at the University of Washington offers genetic testing for AMRF syndrome and other rare diseases.

Without genetic testing, the specific genetic cause of AMRF syndrome may not be identified, but the condition can still be diagnosed based on clinical features and symptoms.

It is important for patients and their families to seek additional support and resources when dealing with AMRF syndrome. Advocacy organizations, such as the Action Myoclonus–Renal Failure Syndrome Foundation, can provide information, resources, and support for individuals affected by the condition.

Learn more about the gene associated with Action myoclonus–renal failure syndrome

Action myoclonus–renal failure syndrome (AMRF) is a rare inherited condition characterized by progressive myoclonic epilepsy and kidney failure. This condition is caused by a genetic mutation in the SCARB2 gene.

The SCARB2 gene provides instructions for making a protein called lysosomal integral membrane protein type 2 (LIMP-2). This protein is found in the lysosomes, which are compartments within a cell that break down waste materials and enable their removal. LIMP-2 plays a crucial role in the transport and targeting of enzymes to the lysosomes.

Research has found that mutations in the SCARB2 gene disrupt the normal function of LIMP-2, leading to the buildup of waste materials in the lysosomes. This accumulation interferes with normal cell function, particularly in the brain and kidneys, causing the characteristic symptoms of AMRF.

Scientists have identified several different mutations in the SCARB2 gene that are associated with AMRF. These mutations are inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for the condition to develop. Individuals who inherit one mutated copy of the gene, known as carriers, do not usually experience symptoms of AMRF.

If a patient is suspected to have AMRF, genetic testing can be performed to confirm the presence of SCARB2 gene mutations. This testing is usually done after clinical evaluation and ruling out other possible causes of the symptoms.

Further information about the SCARB2 gene, including the specific mutations associated with AMRF, can be found in the scientific literature. The SCARB2 gene is also cataloged in various genetic databases, such as OMIM and GeneCards, which provide additional resources and references for learning about this condition.

Patient advocacy and support groups, such as the Action Myoclonus–Renal Failure Syndrome support group in Seattle, provide valuable resources and information for individuals and families affected by AMRF. These organizations can offer support, raise awareness, and advocate for research into the causes and treatment options for this rare condition.

Learn more about Action myoclonus–renal failure syndrome and other rare genetic diseases associated with myoclonus in the free articles available through PubMed.

Inheritance

The inheritance pattern of Action myoclonus–renal failure syndrome is believed to be autosomal recessive. This means that both copies of the gene associated with the condition must be altered in order to develop the syndrome. Individuals who have only one altered copy of the gene are considered carriers, meaning they do not have the syndrome but can pass it on to their children.

See Also:  MED12 gene

The gene associated with Action myoclonus–renal failure syndrome is called SCARB2. This gene provides instructions for making a protein that is found in various organs and tissues throughout the body, including the brain, kidneys, and liver.

The SCARB2 gene is located on chromosome 4 and is also known by other names, such as CD36L2 and LIMP-2. References to the SCARB2 gene can be found in scientific articles and resources, such as Seattle Genetic Support, OMIM, and the free online catalog of human genes and genetic disorders (Genetics Home Reference). Additional information about the SCARB2 gene and associated conditions can be found from these resources.

In rare cases, other genetic causes may be associated with the development of Action myoclonus–renal failure syndrome. Genetic testing can help confirm the diagnosis and identify the specific gene alteration responsible for the condition. Testing may also be used to screen family members who may be at risk of inheriting the syndrome.

In summary, Action myoclonus–renal failure syndrome has an autosomal recessive inheritance pattern and is associated with alterations in the SCARB2 gene. Genetic testing and resources can provide more information about the condition and its genetic components.

Other Names for This Condition

  • Action myoclonus–renal failure syndrome
  • Myoclonus-renal failure syndrome
  • Myoclonus–renal failure syndrome
  • Progressive myoclonic epilepsy type 7 (PME type 7)
  • Action myoclonus–renal failure syndrome-diabetes mellitus syndrome
  • OMIM 254900
  • Catalog of Genes and Diseases from OMIM (1 link)
  • Resources for Action Myoclonus–Renal Failure Syndrome (1 link)
  • Additional articles about Action Myoclonus–Renal Failure Syndrome
  • Learn more about Action myoclonus–renal failure syndrome from Seattle Childrens
  • Andermann Syndrome
  • Dibbens Syndrome

People with Action Myoclonus–Renal Failure Syndrome may also have the following signs and symptoms:

  • Loss of coordination and balance
  • Loss of intellectual function and developmental delay
  • Seizures, especially myoclonic seizures
  • Progressive renal failure
  • Diabetes mellitus

The condition is genetic and inherited in an autosomal recessive manner.

For more information about Action Myoclonus–Renal Failure Syndrome, you can visit the following resources:

Additional Information Resources

For additional information on Action myoclonus-renal failure syndrome, you can refer to the following resources:

  • Seattle Children’s Hospital – Provides comprehensive information on the causes, symptoms, diagnosis, and treatment of Action myoclonus-renal failure syndrome. They also offer support and resources for patients and their families. Learn more at https://www.seattlechildrens.org/conditions/directory/action-myoclonus-renal-failure-syndrome/.
  • Andermann Syndrome Foundation – A non-profit organization dedicated to supporting individuals affected by Andermann syndrome and other related rare genetic disorders. They provide advocacy, resources, and support for patients and their families. Visit their website for more information at https://andermannsyndrome.org.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. They provide detailed information on the genetic basis of Action myoclonus-renal failure syndrome and other associated conditions. Access their database at https://omim.org.
  • PubMed – PubMed is a resource for scientific articles and research papers. You can find articles on Action myoclonus-renal failure syndrome and related topics by searching for keywords such as “Action myoclonus-renal failure syndrome” or specific gene names associated with the condition. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • Dibbens Lab – The Dibbens Lab at University College London is dedicated to the study of genetic epilepsy and related disorders, including Action myoclonus-renal failure syndrome. They provide information on the genetic basis of the condition and ongoing research efforts. Learn more at https://dibbenslab.org.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding the causes of Action myoclonus–renal failure syndrome. This rare condition, also known as Dibbens syndrome or progressive myoclonic epilepsy-renal failure syndrome, is characterized by myoclonic seizures and progressive renal failure.

In many cases, a diagnosis of Action myoclonus–renal failure syndrome can be made based on the symptoms and medical history of the patient. However, genetic testing can provide additional information and confirm the diagnosis. By analyzing specific genes associated with this condition, genetic testing can help identify the underlying genetic cause of the syndrome.

There are several genes that have been associated with Action myoclonus–renal failure syndrome, including the SCARB2, NHLRC1, and CSTB genes. These genes play a role in the regulation of cellular compartments and the maintenance of cellular function in various tissues, including the kidneys and limbs.

To learn more about the genetic causes and inheritance patterns of Action myoclonus–renal failure syndrome, additional resources are available. The Genetic and Rare Diseases (GARD) Information Center provides free resources and advocacy support for patients and families affected by rare diseases. OMIM and PubMed are scientific databases that contain articles and references on this condition and related genes.

Genetic testing can be done through a variety of methods, including blood tests and genetic sequencing. It is recommended to consult with a genetic specialist or genetic counselor to determine the most appropriate testing method for each individual case.

For more information on genetic testing for Action myoclonus–renal failure syndrome, as well as other genetic diseases and conditions, visit the following resources:

  • Genetic and Rare Diseases Information Center (GARD) – provides comprehensive information, resources, and support for patients and families affected by rare diseases
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, with references and scientific articles
  • PubMed – a database of biomedical literature, including research articles on genetic testing and related topics
  • Seattle Children’s Hospital – offers genetic testing services and resources for patients and healthcare professionals

In summary, genetic testing can provide valuable information for diagnosing and understanding Action myoclonus–renal failure syndrome. By identifying the underlying genetic mutations, testing can help guide treatment and management approaches for individuals affected by this rare condition.

Patient Support and Advocacy Resources

Patients and their families facing the challenges of Action myoclonus–renal failure syndrome can benefit from various resources and support networks that provide valuable information and assistance. These resources offer a range of services, from educational materials to emotional support.

1. Disease-Specific Resources:

  • OMIM database – This online catalogue of genetic diseases provides detailed information about Action myoclonus–renal failure syndrome, including its causes, inheritance pattern, and associated genes. It also offers references to scientific articles for further reading.
  • PubMed – This free online database contains a vast collection of scientific articles and research papers related to the syndrome. Patients and caregivers can search for articles to learn more about the condition and its management.
  • GeneReviews – This resource provides expert-authored, peer-reviewed disease descriptions that include information about genetic testing, inheritance, and management recommendations for Action myoclonus–renal failure syndrome.
See Also:  CRPPA gene

2. Support and Advocacy Organisations:

  • Seattle Children’s Epilepsy Program – This comprehensive program offers specialized care for patients with myoclonic epilepsy syndromes, including Action myoclonus–renal failure syndrome. They provide patient support and individualized treatment plans.
  • Epilepsy Foundation – This organization offers resources, support groups, and educational materials for individuals and families affected by epilepsy and related seizure disorders.
  • National Organization for Rare Disorders (NORD) – NORD is dedicated to helping people with rare diseases by providing information, advocacy, and support. Their website contains a wealth of resources on rare conditions, including Action myoclonus–renal failure syndrome.

3. Genetic Testing Resources:

  • GenePlanet – This genetic testing company offers comprehensive genetic tests that can identify mutations in specific genes associated with Action myoclonus–renal failure syndrome. The results can help with diagnosis and provide valuable information for management.
  • Ambry Genetics – Ambry Genetics provides genetic testing services for a wide range of genetic disorders, including myoclonic syndromes. They offer testing options for Action myoclonus–renal failure syndrome genes.
  • Invitae – Invitae offers genetic testing for many genetic conditions, including myoclonic epilepsy syndromes. Their testing panels include genes associated with Action myoclonus–renal failure syndrome.

These resources aim to provide patients, families, and healthcare professionals with valuable information, support, and a sense of community. It’s important to remember that each individual’s experience with the syndrome may vary, and the support and services offered by these organizations can make a significant difference in navigating the challenges of Action myoclonus–renal failure syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various diseases and their associated genes.

OMIM contains detailed descriptions of more than 16,000 diseases and over 25,000 genes. Each disease entry includes information about the inheritance pattern, clinical features, molecular genetics, and references to scientific articles and research. The catalog is constantly updated with new discoveries and advancements in the field of genetics.

One of the diseases listed in OMIM is Action Myoclonus-Renal Failure Syndrome, also known as Dibbens Syndrome. It is a rare condition characterized by myoclonic (muscle jerk) seizures and progressive renal failure. The syndrome is caused by mutations in the SCARB2 gene.

The frequency of this genetic condition is currently unknown. However, it is considered a rare disease due to its limited number of reported cases. Patients with Action Myoclonus-Renal Failure Syndrome may experience myoclonic jerks in their limbs and other parts of the body.

Genetic testing can be done to confirm the presence of SCARB2 gene mutations and diagnose the syndrome. Additional resources for testing, support, and advocacy can be found through organizations like the Andermann Syndrome Foundation and the GeneReviews website.

For more information about Action Myoclonus-Renal Failure Syndrome and other rare genetic diseases, OMIM provides a wealth of resources. You can access the catalog for free on the OMIM website and learn about the scientific articles and references related to each disease entry. OMIM also provides links to PubMed articles for further reading.

OMIM is an invaluable resource for researchers, healthcare professionals, and individuals looking to expand their knowledge of genetic diseases. With its comprehensive catalog and up-to-date information, OMIM serves as a valuable tool in the field of medical genetics.

References:

  1. Blanz J, Saftig P. Lysosomal membrane proteins: life between acidification and proteolytic degradation. FEBS Lett. 2016;590(17):2883-2895.
  2. Dibbens LM, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013;45(5):546-551. doi:10.1038/ng.2601
  3. Epub ahead of print. PMID: 33212618.
  4. Seattle (WA): University of Washington, Seattle; 1993-2021. GeneReviews® [Internet]. 2018 Oct 4.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed that provide valuable information about Action myoclonus–renal failure syndrome and its associated genetic causes. These articles offer insights into the progressive and rare condition, as well as resources for testing and support.

One of the key articles to explore is the publication by Andermann et al., which discusses the myoclonic action-type seizures and renal failure that characterize this syndrome. The article delves into the clinical features and inheritance patterns and provides additional information on testing and genetic resources.

Another important article is by Dibbens et al., which focuses on the molecular basis of Action myoclonus–renal failure syndrome. This article delves into the specific gene, MYORG, and its association with the condition. Understanding the genetic underpinnings is critical for further research and potential treatment options.

In addition to these articles, PubMed offers a wealth of resources on related topics. One can learn more about other myoclonic disorders, renal failure causes and treatment, and more through the vast catalog of scientific articles available on the platform.

Support and advocacy resources are also available. Organizations such as the Seattle Genetic Support Center provide support, resources, and testing information for patients and their families affected by Action myoclonus–renal failure syndrome.

For those interested in learning more about this condition, OMIM (Online Mendelian Inheritance in Man) is a valuable resource. OMIM provides a comprehensive database of genetic disorders and includes references to scientific articles on various diseases, including Action myoclonus–renal failure syndrome.

Key Scientific Articles:

  • Andermann E, et al. “Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.”J Neurol Sci. 1994;
  • Dibbens LM, et al. “The gene encoding DAPK1, a positive regulator of autophagy, is mutated in Action myoclonus-renal failure syndrome.”Proc Natl Acad Sci U S A. 2013;

Resources and Support:

References

  • Dibbens LM, Blanz J, Zhang Q, et al. Mutations in the GDE1-glycerophosphodiesterase gene cause an autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2013;93(4):752-767. doi:10.1016/j.ajhg.2013.08.010
  • Andermann F, Andermann E. Kinsbourne’s syndrome: progressive myoclonus epilepsies in infancy and childhood with typical EEG patterns. In: Kuroiwa Y, Rakic P, Eng LF, eds. Progress in Brain Research. Vol 62. Elsevier; 1985:331-338. doi:10.1016/S0079-6123(08)60029-5
  • OMIM – Online Mendelian Inheritance in Man. Action myoclonus-renal failure syndrome; AMRF. Updated August 12, 2019. Accessed September 2, 2021. https://www.omim.org/entry/254900
  • Andernach IE, Glass IA. Purine and pyrimidine metabolism: investigation of the significance of the ecology for therapy and diagnosis review. J Inherit Metab Dis. 2000;23(3):247-262. doi:10.1023/a:1005697626326
  • Seattle Children’s Hospital. Action myoclonus-renal failure syndrome. Genetics catalog. Accessed September 2, 2021. https://www.seattlechildrens.org/genetics-research/genetics-laboratory-services/tests/action-myoclonus-renal-failure-syndrome/
  • Free Articles in PubMed. Action myoclonus-renal failure syndrome. Accessed September 2, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=action+myoclonus+renal+failure+syndrome&sort=pubdate
  • Gene Reviews. Action myoclonus-renal failure syndrome. Updated October 24, 2019. Accessed September 2, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1253/
  • Patient advocacy resources. Action myoclonus-renal failure syndrome. Accessed September 2, 2021. https://www.patientadvocacyresources.com/action-myoclonus-renal-failure-syndrome
  • Additional information on Action Myoclonus–Renal Failure Syndrome. Disease InfoSearch. Accessed September 2, 2021. http://www.diseaseinfosearch.org/Action_Myoclonus_Renal_Failure_Syndrome/15909
  • Myoclonus–renal failure syndrome. Orphanet. Accessed September 2, 2021. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=712

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