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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Alternating hemiplegia syndrome
  • AHC
  • Alternating hemiplegia
Home > Rare Diseases and Related Terms > Alternating hemiplegia of childhood



Alternating hemiplegia of childhood
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Alternating hemiplegia of childhood (AHC) is a severe disorder affecting the neurological system of children usually before 18 months of age. Classic AHC causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Symptoms disappear during sleep and return upon waking.[3] The majority of affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures that occur in up to 50% of patients.[3]  Treatment options are limited to therapies that can help with some of the symptoms. The majority of cases of classic AHC are caused by new mutation in the ATP1A3 gene that is not inherited.[1] Thus, most patients with AHC with a mutation in ATP1A3 gene do not have a family history of the disorder.  Additional genes such as CACNA1A and ATP1A2 have been identified in some cases of AHC with an atypical clinical presentation.  ATP1A2 mutations were shown, however, to be more consistent with familial hemiplegic migraine.[2]


References
  1. Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics. September 2012;44(9):1030-4;
  2. NINDS. Alternating Hemiplegia of Childhood. . September 16, 2011 Available at: http://www.ninds.nih.gov/disorders/alternatinghemiplegia/alternatinghemiplegia.htm. Accessed November 19, 2012.
  3. Sweney M T, et al. Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome. Pediatrics. March 2009;123:e534-e541;
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More Detailed Information (Found 5 resources)
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  • General

    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alternating hemiplegia of childhood. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Alternating hemiplegia of childhood. Click on the link to view a sample search on this topic.
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Organizations (Found 7 resources)
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    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Alternating hemiplegia of childhood.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
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Services (Found 3 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

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    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 3 resources)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • 2011 Neurobiology of Disease in Children Symposium: Childhood Ataxia, October 25, 2011
      Description: The overall aims of this NDC symposia are to (1) review scientific advances and determine their relevance to current and future clinical practice in child neurology; (2) coordinate efforts among various clinical and basic science disciplines, lay organizations, and the NIH to review current research initiatives and define future directions; and (3) disseminate symposia proceedings to ensure that clinical and basic science disciplines are informed about scientific advances, current research initiatives, and future directions. NDC symposia have brought together clinicians, scientists, caregivers, and NIH program officers to determine how research findings can be translated to enhance clinical understanding and affect clinical practice.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 3 resources)
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    • ClinicalTrials.gov lists trials that are studying or have studied Alternating hemiplegia of childhood. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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