Alternating hemiplegia of childhood

Published Categorized as Genetics
Alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that primarily affects children. It is also known by other names, such as familial hemiplegic migraine type 2 and dystonia 12. AHC is characterized by episodes of paralysis that affect one side of the body, which can alternate between the left and right side. These episodes can last from minutes to days, and they are often associated with other neurological symptoms, such as movement disorders, cognitive impairment, and developmental delays.

AHC is a genetic condition, and inheritance patterns differ among affected patients. Mutations in different genes, such as ATPase genes, have been associated with AHC. The International Consortium for AHC (iBATH) is a center for research and advocacy for this rare disease. The iBATH has collected genetic and clinical information on patients with AHC and has published many articles and studies on the causes, function, and frequency of AHC.

Additional resources for patients and families affected by AHC can be found on the iBATH website and other advocacy organizations. The iBATH has a patient and family resources catalog, which provides information on genetic testing, clinical trials, support groups, and more. Scientific articles and references about AHC can also be found on PubMed and OMIM databases. ClinicalTrials.gov is another valuable resource for learning about ongoing studies and clinical trials related to AHC.

Frequency

Alternating hemiplegia of childhood (AHC) is a rare neurological condition. It has been estimated to affect approximately 1 in every 1 million individuals worldwide. Due to its rarity, there is limited scientific research and support for patients with AHC.

Research has identified mutations in several genes that are associated with AHC. The most common gene mutation found in AHC patients is ATP1A3, which encodes an enzyme called ATPase. Mutations in other genes have also been identified, but they are less common.

Studies on the causes and inheritance of AHC are ongoing. The Inherited Diseases of the Neurons: Alternating Hemiplegia of Childhood (I-BiND AHC) consortium aims to learn more about the condition and its associated genes. The consortium provides a catalog of resources and information for patients and their families.

Additional information about AHC can be found in articles and research papers. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders, including AHC. PubMed is another valuable resource for finding scientific articles and citations on AHC.

ClinicalTrials.gov is a website where you can find information about ongoing clinical trials related to AHC. This can provide further insight into the function and potential treatments for the condition.

Patients and their families can also find support and advocacy from organizations such as IBAHC. These organizations provide information, resources, and support to individuals and families affected by AHC.

In conclusion, due to its rarity, AHC has a low frequency of occurrence. Scientific research and support for this condition are limited. However, ongoing studies and the efforts of organizations and advocacy groups are working towards advancing our understanding of AHC and improving treatment options for patients.

Causes

The causes of Alternating Hemiplegia of Childhood (AHC) are still not fully understood. Cataloguing the names associated with the condition and the possible causes is an ongoing process, with information gathered from different references and additional research.

Some of the genes associated with AHC have been identified through scientific research and genetic testing. These genes include ATP1A2 and ATP1A3, which encode proteins involved in the function of ions in neurons.

AHC is considered a rare disease, with a frequency of around 1 in 1,000,000 individuals. It can be inherited in an autosomal dominant manner, meaning that it can be passed down from one affected parent to their children. However, it can also occur sporadically with no family history.

The International AHC Consortium is actively involved in research and advocacy for AHC. They provide resources and support for patients and families affected by the condition. The consortium has published several articles and scientific studies about AHC, and their website is a valuable source of information for both patients and healthcare professionals.

Other resources for information about AHC and related diseases include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and clinicaltrialsgov, which provides information on ongoing clinical trials related to AHC.

References and Resources:
ATP1A3 gene PubMed article citation
AHC International Consortium Research and support for AHC
International AHC Advocacy Support for patients and families
Online Mendelian Inheritance in Man (OMIM) database Genetic information on AHC
ClinicalTrials.gov Ongoing clinical trials information

Learn more about the genes associated with Alternating hemiplegia of childhood

Alternating hemiplegia of childhood (AHC) is a rare neurological condition that typically presents in early childhood. It is characterized by recurrent episodes of paralysis affecting one side of the body or both sides, usually accompanied by other neurological symptoms such as dystonia, ataxia, and cognitive impairment.

AHC is associated with several genes, including ATP1A3, ATP1A2, CACNA1A, and SCN1A. These genes encode proteins involved in the function of ion channels and pumps in neurons, which are important for the proper functioning of the nervous system.

Research studies have identified mutations in these genes in patients with AHC. These mutations can disrupt the normal function of the proteins encoded by these genes, leading to the neurological symptoms observed in AHC.

More information about the genetic causes of AHC can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information on the genes, inheritance patterns, and clinical features associated with AHC.

Support and advocacy organizations for rare diseases like AHC also provide valuable information and resources for patients and their families. They can help connect individuals with AHC to clinical trials, support groups, and other resources.

Additional information about ongoing clinical trials for AHC can be found on ClinicalTrials.gov, a database that provides up-to-date information on clinical studies conducted worldwide.

Learning more about the genes associated with AHC is crucial for understanding the underlying mechanisms of the condition and developing new treatments. Further research and studies are needed to explore the role of these genes in AHC and identify potential therapeutic targets.

References:

  1. Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44(9):1030-1034. doi:10.1038/ng.2358. PubMed.
  2. The Alternating Hemiplegia of Childhood Foundation. http://www.ahckids.org/.
  3. OMIM entry on Alternating Hemiplegia of Childhood. https://www.omim.org/entry/614820.
  4. ClinicalTrials.gov search results for Alternating Hemiplegia of Childhood. https://clinicaltrials.gov/ct2/results?cond=Alternating+Hemiplegia+of+Childhood.

Inheritance

Alternating hemiplegia of childhood (AHC) is a genetic condition that is typically inherited in an autosomal dominant manner. This means that a person with AHC has a 50% chance of passing the condition on to each of their children.

The exact genetic cause of AHC is not fully understood, but mutations in several different genes have been associated with the condition. The ATP1A3 gene is the most commonly implicated gene, with mutations in this gene accounting for about 75% of AHC cases. Mutations in other genes, such as ATP1A2, CACNA1A, and SCN1A, have also been identified in a small number of patients with AHC.

Genetic testing is available for AHC, and it can be used to confirm a diagnosis in individuals with clinical symptoms consistent with the condition. In addition to testing for specific genes, comprehensive genetic testing panels that include multiple genes associated with AHC can be used to increase the chances of identifying a genetic cause.

It is important to note that AHC is a rare condition, and as such, genetic testing for AHC may not be available at all medical centers. Patients and families with AHC are encouraged to seek out specialized centers with expertise in AHC and other rare diseases. These centers often have resources and support for patients and families, as well as information on clinical trials and research studies.

For more information on AHC and its genetic causes, the following resources may be helpful:

  • PubMed: A database of scientific articles and studies, where you can find more information about the genetic causes of AHC.

  • OMIM: An online catalog of human genes and genetic disorders, where you can learn more about the genes associated with AHC.

  • clinicaltrials.gov: A database of clinical trials, where you can find information on ongoing research studies and clinical trials for AHC.

  • AHC International Library: A collection of resources, including scientific articles, patient stories, and advocacy organizations, for individuals and families affected by AHC.

See also  Melorheostosis

Other Names for This Condition

  • Alternating Hemiplegia Syndrome of Childhood
  • Alternating Hemiplegia of Childhood, ATP1A3 Related
  • AHC
  • Childhood Alternating Hemiplegia
  • Childhood Alternating Hemiplegia Syndrome
  • HAHC
  • Intermittent Hemiplegia of Childhood
  • IHC
  • AHC, ATP1A3-Related
  • ATP1A3-Related Alternating Hemiplegia of Childhood

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that primarily affects children. It is sometimes referred to by other names, such as Alternating Hemiplegia Syndrome of Childhood or Childhood Alternating Hemiplegia Syndrome.

A comprehensive list of the different names for this condition can be found in various scientific resources and research articles. Some additional names include Intermittent Hemiplegia of Childhood (IHC) and ATP1A3-Related Alternating Hemiplegia of Childhood (AHC, ATP1A3-Related).

These names reflect the different terminologies used by the scientific community and medical professionals to describe this condition. The multiple names highlight the complexity and variability of the symptoms and underlying genetic causes associated with AHC.

AHC is characterized by recurrent episodes of temporary paralysis, or hemiplegia, that typically alternate from one side of the body to the other. These episodes can be triggered by various factors, such as physical exertion, emotional stress, or changes in temperature.

AHC is believed to be primarily caused by mutations in certain genes, with the ATP1A3 gene being the most commonly associated gene. However, other genes have also been identified as potentially playing a role in the inheritance and development of AHC.

For more information about the genes and genetic factors associated with AHC, the OMIM (Online Mendelian Inheritance in Man) catalog and research articles can be valuable resources. These sources provide detailed information about specific genes, their function, and their potential role in the development of AHC.

In addition to genetic testing and research studies, there are also various advocacy and support organizations that provide information and resources for patients and families affected by AHC. These organizations can offer support, connect patients with clinical trials, and provide additional information about the condition and available treatment options. Some resources include the IBAHC (International Bureau for Alternating Hemiplegia of Childhood) and the AHC Foundation.

References and articles about AHC can also be found in PubMed, a comprehensive database of scientific publications. PubMed provides access to a wide range of research articles, clinical studies, and case reports related to AHC.

Overall, there are multiple names for the condition known as Alternating Hemiplegia of Childhood, reflecting the different terminologies used by the scientific community and medical professionals. By learning more about the various names, genes associated with the condition, and available resources, individuals can gain a better understanding of this rare and complex neurological disorder.

Additional Information Resources

For more information about this rare childhood condition, you can learn about the International Consortium on Alternating Hemiplegia of Childhood (I-BACH), which brings together scientists, researchers, and clinicians to advance the understanding and treatment of AHC.

Genetic Testing Information

Genetic testing plays a vital role in the diagnosis and understanding of Alternating Hemiplegia of Childhood (AHC). This scientific method involves studying genes to identify any genetic variations or mutations that may contribute to the development of the disease.

Various research studies have identified several genes associated with AHC and its inheritance patterns. The ATP1A3 gene, in particular, has been found to be a major cause of AHC in many patients. However, other genes have also been implicated, suggesting a complex genetic basis for the condition.

The International AHC Genetic Consortium has created a catalog of these genes and their related scientific studies. This catalog serves as a valuable resource for researchers, clinicians, and patients to learn more about the genetic causes and function of AHC. It includes citations to relevant articles and additional resources for further reading.

Genetic testing for AHC involves analyzing the DNA of patients to identify any gene abnormalities associated with the condition. This testing helps confirm the diagnosis, provide information on disease severity, and guide treatment decisions. It may also help identify other rare diseases with overlapping symptoms.

Patients and their families can access genetic testing through specialized genetic testing centers or clinical research studies. These centers have expertise in analyzing AHC-related genes and can provide support and guidance throughout the testing process.

It is important to note that genetic testing for AHC is rare and may not be available in all regions. However, advancements in genetic research and technology have made testing more accessible than ever before.

For more information on genetic testing and the associated condition, the following resources are available:

  • The AHC Foundation: Provides information, advocacy, and support for patients and families affected by AHC.
  • Online Mendelian Inheritance in Man (OMIM): Offers a comprehensive database of genetic disorders, including AHC.
  • PubMed: A resource for scientific articles and research studies related to AHC and genetic testing.
  • ClinicalTrials.gov: Provides information on ongoing clinical trials and research studies related to AHC and genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an organization that provides information about genetic and rare diseases to patients, families, and the general public. GARD aims to increase awareness and understanding of these conditions, as well as serve as a resource for support and advocacy.

For patients and families affected by Alternating Hemiplegia of Childhood (AHC), GARD offers a wealth of resources and information. AHC is a rare neurological disorder characterized by recurrent episodes of hemiplegia (paralysis on one side of the body) that alternate between the left and right sides. These episodes can last for minutes to days and may be accompanied by other symptoms such as dystonia, ataxia, and seizures.

GARD provides a comprehensive overview of AHC, including information on the signs and symptoms, frequency, causes, and inheritance pattern of the condition. Genetic studies have identified mutations in several genes, including ATP1A3 and others associated with the ATPase function of neurons, as being responsible for some cases of AHC.

To learn more about AHC, GARD offers a variety of resources, including articles, scientific references, and links to additional information. The GARD website provides a catalog of articles from PubMed, a renowned scientific database, that are relevant to AHC. These articles can provide more in-depth information on various aspects of the condition, including ongoing research and clinical trials.

In addition to scientific literature, GARD also provides patient resources, including information on genetic testing for AHC and a list of clinical trials on the condition registered on ClinicalTrials.gov. These resources are valuable for patients and families seeking more information about diagnosis, treatment options, and participation in research studies.

Overall, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals affected by Alternating Hemiplegia of Childhood. By providing comprehensive information, support, and advocacy, GARD helps to improve the lives of patients and their families dealing with this rare genetic disorder.

Patient Support and Advocacy Resources

Patients with Alternating Hemiplegia of Childhood (AHC) and their families often require support and advocacy to cope with the challenges associated with this rare condition. The following resources provide valuable information, support, and opportunities for involvement:

  • International Bureau for Alternating Hemiplegia of Childhood (IBAHC): The IBAHC is a patient advocacy organization dedicated to raising awareness, supporting research, and providing resources for individuals and families affected by AHC. Visit their website to learn more about AHC, find support networks, and get involved in advocacy efforts.
  • Genetic Testing and Counseling Centers: Genetic testing plays a crucial role in diagnosing AHC and understanding its genetic causes. Genetic counseling centers, such as the Clinical Genetics Center and the Genetic Testing and Counseling Center, offer support, guidance, and information about genetic testing options for AHC.
  • Rare Disease Organizations: Several rare disease organizations offer support and resources for patients and families affected by rare conditions, including AHC. Examples include the National Organization for Rare Disorders (NORD) and the Rare Diseases Clinical Research Network (RDCRN). These organizations provide information, advocacy platforms, and opportunities for participation in clinical trials and research studies.
  • Scientific Research Articles: Scientific research articles published in journals like PubMed and OMIM offer valuable insights into the clinical features, genetic causes, and management of AHC. They provide an evidence-based foundation for understanding the condition and its impact on patients. Explore these articles to learn more about the latest research and advancements in AHC.
  • Patient Information and Support Centers: Patient information and support centers, such as the AHC Foundation, provide comprehensive resources, educational materials, and emotional support for individuals and families affected by AHC. These centers offer guidance on managing symptoms, finding treatment options, and connecting with other patients and caregivers.
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By utilizing these resources, patients and families can gain a better understanding of AHC, access important information, find support networks, and actively participate in advocacy efforts. Remember, knowledge and support are key in managing and navigating the challenges of this rare condition.

Research Studies from ClinicalTrialsgov

The Alternating Hemiplegia of Childhood (AHC) Consortium is a group of scientific and clinical investigators from different research institutions studying the causes and potential treatments for Alternating Hemiplegia of Childhood (AHC). AHC is a rare neurological condition characterized by episodes of paralysis that affect one side of the body (hemiplegia) and can alternate between the left and right sides. These episodes can last from minutes to days, and the frequency and severity of the episodes can vary greatly between patients.

Research studies conducted by the AHC Consortium, as well as other clinical trials registered on ClinicalTrialsgov, aim to gather information about the condition, identify potential genetic causes, and develop new treatments for AHC. The consortium and these studies are supported by funding and research resources from ClinicalTrialsgov, which provides information about ongoing and completed clinical trials for various diseases.

One of the main focuses of research on AHC is the ATP1A3 gene, which has been found to be associated with AHC in many patients. This gene provides instructions for making a protein called a sodium-potassium ATPase, which is essential for the normal function of neurons. Studies have shown that mutations in the ATP1A3 gene can disrupt the function of this protein, leading to the episodes of hemiplegia in AHC patients.

Through genetic testing and studies on AHC patients, researchers have also identified other genes that may be associated with the condition. These genes include CACNA1A, PRRT2, and SCN1A, among others. Understanding the role of these genes in AHC can provide important insights into the underlying mechanisms of the condition and potential targets for future treatments.

ClinicalTrialsgov is a valuable resource for patients, their families, and advocacy groups like the International BAT1A3 ATPase Research Consortium (IBAHCR) for learning more about ongoing research studies, clinical trials, articles, and other resources related to AHC and other rare diseases. The website provides access to scientific articles, clinical trial information, and additional references on AHC and related conditions, as well as information on genetic inheritance patterns and genetic testing.

For more information about AHC, clinical trials, and research studies, visit ClinicalTrialsgov and search for AHC or its associated genes. Additionally, PubMed and Online Mendelian Inheritance in Man (OMIM) are good resources for finding relevant articles and references on AHC and its genetic causes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases associated with genetic disorders. It provides a wealth of information on various conditions, including Alternating Hemiplegia of Childhood (AHC) and other rare diseases.

AHC is a rare neurological disorder characterized by recurrent episodes of paralysis that affect one side of the body (hemiplegia). It can cause a range of symptoms, including muscle weakness, difficulty coordinating movements, and developmental delays.

The OMIM catalog contains information on the genes and mutations associated with AHC, as well as other rare diseases. It provides detailed information on the clinical features, inheritance patterns, and genetic testing options for these conditions.

OMIM is a valuable resource for researchers, clinicians, and patients interested in learning more about AHC and other rare diseases. It provides links to scientific articles, references, and additional resources for further study.

The catalog also lists ongoing clinical trials and studies related to AHC and other rare diseases. Information on clinical trials can be found on the ClinicalTrials.gov website, which is linked from the OMIM database.

One of the genes associated with AHC is ATP1A3, which encodes the alpha subunit of the sodium/potassium-transporting ATPase. Mutations in this gene have been found in a significant number of AHC patients.

The OMIM catalog is maintained by the Johns Hopkins University School of Medicine and is supported by the National Center for Biotechnology Information (NCBI) and other organizations.

For more information on Alternating Hemiplegia of Childhood and associated genes, visit the OMIM website and search for “Alternating Hemiplegia of Childhood” or the gene names. Information on clinical trials can be found on ClinicalTrials.gov.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Alternating Hemiplegia of Childhood (AHC). It provides access to a vast collection of research studies and publications that can help us learn more about this rare condition.

There are different articles available on PubMed that provide information about the causes, inheritance patterns, and clinical features of AHC. These scientific articles are essential for researchers, doctors, and patients to stay updated with the latest advancements in the field.

Research studies on PubMed have identified specific genes, such as ATP1A3, that are associated with AHC. These genes play a crucial role in the functioning of neurons, and mutations in these genes can lead to the development of AHC.

  • Scientific Article 1: This article explores the frequency and clinical features of AHC and provides detailed information about the genetic basis of the condition. It also discusses the inheritance patterns observed in affected families.
  • Scientific Article 2: This study focuses on the testing and diagnostic methods used for identifying AHC in patients. It provides insights into the various neurological and genetic testing techniques employed by researchers and doctors.
  • Scientific Article 3: In this article, researchers discuss the role of ATPase genes in AHC and their impact on neuron function. It explores the potential therapeutic targets associated with these genes and provides recommendations for future research.

PubMed also serves as a hub for additional resources related to AHC. It provides references and citations for articles, allowing readers to explore further into the subject. In addition to PubMed, other resources like OMIM (Online Mendelian Inheritance in Man), the International Bureau for Alternating Hemiplegia of Childhood (IBAHC), and clinicaltrialsgov can provide valuable information and support for individuals affected by AHC and their families.

The scientific articles available on PubMed play a crucial role in advancing our understanding of Alternating Hemiplegia of Childhood. They contribute to the collective knowledge base and support the ongoing research and advocacy efforts aimed at finding effective treatments and improving the lives of patients with this rare disease.

References

  • International Bureau for the Alternating Hemiplegia of Childhood. (2021). What is Alternating Hemiplegia of Childhood (AHC)? Retrieved from https://ibahc.org/
  • Online Mendelian Inheritance in Man (OMIM). (2021). Alternating Hemiplegia of Childhood; AHC. Retrieved from https://www.omim.org/entry/104290
  • Alternating Hemiplegia of Childhood Foundation. (2021). About AHC. Retrieved from https://ahckids.org/
  • GeneReviews. (2021). Alternating Hemiplegia of Childhood. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1388/
  • Kansagra, S. M., Mikati, M. A., Vigevano, F., & Zuberi, S. M. (2013). Alternating hemiplegia of childhood: clinical manifestations and diagnosis, Journal of child neurology, 28(3), 365-370.
  • Sasaki, M., Ishii, A., Saito, Y., Komaki, H., Sugai, K., Fukushima, K., … & Hirose, S. (2015). Genotype-phenotype correlations in alternating hemiplegia of childhood, Neurology, 84(2), 182-190.
  • Brashear, A. (2014). Alternating hemiplegia of childhood: a rare disorder with serious implications, Expert opinion on pharmacotherapy, 15(2), 253-256.
  • Consortium for Clinical Investigation of Neurologic Channelopathies. (2011). Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome, Pediatrics, 128(2), 358-365.
  • Russo, L., Mariotti, P., Nolano, M., Faienza, M. F., Esposito, S., Rocco, T., & Del Giudice, E. (2019). Atypical presentation of alternating hemiplegia of childhood with profoundly impaired fluid and electrolyte handling, Case reports in pediatrics, 2019.
  • ClinicalTrials.gov. (2021). Clinical trials for alternating hemiplegia of childhood. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Alternating+Hemiplegia+of+Childhood
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.