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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Perisylvian syndrome
  • Polymicrogyria, bilateral perisylvian
  • Congenital bilateral perisylvian syndrome
  • CBPS
  • Perisylvian syndrome, congenital bilateral
  • PMGX
Home > Rare Diseases and Related Terms > Bilateral perisylvian polymicrogyria



Bilateral perisylvian polymicrogyria
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Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that may be apparent at birth, infancy, or later during childhood. It is characterized mainly by partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing (dysphagia); and/or seizures (epilepsy). In most cases, mild to severe intellectual disability is also present. BPP is thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. In most cases, it appears to occur randomly for unknown reasons (sporadically); however, a few familial cases have been reported. Treatment usually focuses on the specific symptoms that are present in each individual and may include anticonvulsant drugs to help prevent, reduce, or control epilepsy associated with the condition.[1]


References
  1. Perisylvian Syndrome, Congenital Bilateral. NORD. December 31, 2010 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Perisylvian%20Syndrome%2C%20Congenital%20Bilateral. Accessed May 6, 2011.
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Questions & Answers (Found 2 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Bilateral perisylvian polymicrogyria click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 5 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • Genetics Home Reference (GHR) contains information on Bilateral perisylvian polymicrogyria. Click on the link to go to GHR and review the information.
    • 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 Bilateral perisylvian polymicrogyria. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Bilateral perisylvian polymicrogyria. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Organizations Providing General Support | Parent Matching Organizations | Social Networking Websites
Organizations (Found 13 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



    • The Lissencephaly Network, Inc (Canada)
      1549 Regent Street
      Regina Saskatchewan S4N 1S1
      Canada
      Phone: 306-569-0146
      Fax: 306-522-1153
    • The Lissencephaly Network, Inc (USA)
      10408 Bitterroot Court
      Fort Wayne IN 46804
      Fax: 260-432-4310
      Email: lissnet@lissencephaly.org
    • PMG Awareness Organization, Inc.
      P.O. Box 47603
      Jacksonville, FL 32247
      Telephone: 904-894-9745
      E-mail: information@pmgawareness.org
      Web site: http://pmgawareness.org/
    • Developmental Delay Resources (DDR)
      5801 Beacon Street
      Pittsburgh, PA 15217
      Toll-free: 1-800-497-0944
      Fax: 412-422-1374
      E-mail: devdelay@mindspring.com
      Web site: http://www.devdelay.org
    • Brain Foundation
      P O Box 579
      Crows Nest, NSW
      1585 Suite 21
      Regent House 37-43
      Alexander Street Crows Nest, NSW 2065
      Telephone: 61 2 9437 5967
      Fax: 61 2 9437 5978
      E-mail: info@brainaustralia.org.au
      Web site: http://www.brainaustralia.org.au/
    • American Epilepsy Society
      342 North Main Street
      West Hartford CT 06117-2507
      Telephone: 860-586-7505
      Fax: 860-586-7550
      E-mail: info@aesnet.org
      Web site: www.aesnet.org
    • Epilepsy Foundation
      8301 Professional Place
      East Landover, MD 20785-2238
      Toll-free: 800-EFA-1000 (800-332-1000)
      Telephone: 301-459-3700
      Fax: 301-577-4941
      E-mail: info@efa.org    
      Web site: http://www.epilepsyfoundation.org/
  • Organizations Providing General Support

  • Parent Matching Organizations

    • Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for perisylvian syndrome.
  • Social Networking Websites

    • 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/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Testing | Parent Resources
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • 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.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • 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 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • 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.
    • 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 6 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
    • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a trial titled Human Epilepsy Genetics--Neuronal Migration Disorders Study which may be of interest to you. To find this trial, click on the link above.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • 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.
    • The Christopher A. Walsh Laboratory is interested in the development of the cerebral cortex. Abnormal development of the cerebral cortex in humans results in epilepsy, autism, mental retardation, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several of their projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development. Conditions that they are currently researching include: double cortex syndrome, periventricular heterotopia, schizencephaly, perisylvian polymicrogyria and Walker Warburg syndrome. Click on the link above to access further information about this research.

  • 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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