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Familial periodic paralysis


Información en español Title




Other Names:
Genetic periodic paralysis

Summary Summary


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Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates.[1] There are 4 forms of familial periodic paralysis: hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. In the hypokalemic form, the paralysis is caused by low levels of potassium. In the hyperkalemic form, the paralysis is caused by high levels of potassium in the blood. In the thyrotoxic form, the paralysis is caused by low levels of potassium in the blood and an overactive thyroid gland (hyperthyroidism). In Andersen-Tawil syndrome, potassium levels can be high, low, or normal.[1][2] Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis.[3] The hyperkalemic form is due to mutations in SCN4A gene.[4] The underlying cause of the thyrotoxic form is unknown. Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome.[5] Treatment is focused on correcting the levels of potassium in the blood and preventing episodes with lifestyle changes.[6] 
Last updated: 7/13/2017

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Periodic Paralysis Association
    155 West 68th Street
    Apartment 1732
    New York, NY 10023
    Telephone: 407-339-9499
    E-mail: lfeld@cfl.rr.com
    Website: http://www.periodicparalysis.org
  • Periodic Paralysis International
    2235 B 36th St. SW
    Calgary, Alberta, T3E 2Z3 Canada
    Telephone: +1-403-244-7213
    E-mail: http://hkpp.org/contact
    Website: http://www.hkpp.org

Social Networking Websites

  • Visit the Periodic Paralysis Network, Inc. group on Facebook.

Organizations Providing General Support

  • Muscular Dystrophy Association (MDA)
    222 S Riverside Plaza
    Suite 1500
    Chicago, IL 60606
    Toll-free: 1-833-275-6321 (Helpline)
    E-mail: resourcecenter@mdausa.org
    Website: https://www.mda.org
  • Muscular Dystrophy UK
    61A Great Suffolk Street
    London, SE1 0BU United Kingdom
    Toll-free: 0800 652 6352 (Helpline)
    Telephone: (+44) 0 020 7803 4800
    E-mail: info@musculardystrophyuk.org
    Website: https://www.musculardystrophyuk.org/
Do you know of an organization? We want to hear from you.
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Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


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Have a question? Contact a GARD Information Specialist.

References References


  1. Rubin M. Familial Periodic Paralysis. Merck Manual Consumer Version. 2017; http://www.merckmanuals.com/home/children-s-health-issues/muscular-dystrophies-and-related-disorders/familial-periodic-paralysi.
  2. Rubin M. Familial Periodic Paralysis. Marck Manuals. Professional Version. 2017; http://www.merckmanuals.com/professional/pediatrics/inherited-muscular-disorders/familial-periodic-paralysis.
  3. Hypokalemic periodic paralysis. Genetics Home Reference. 2007; https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis.
  4. Hyperkalemic periodic paralysis. Genetics Home Reference. 2013; https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis#genes.
  5. Andersen-Tawil syndrome. Genetics Home Reference. 2006; https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome.
  6. Sripathi N. Periodic Paralyses. Medscape Reference. May 18, 2017; http://emedicine.medscape.com/article/1171678-overview.
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