Rare Rheumatology News
Advertisement
Disease Profile
Familial periodic paralysis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Genetic periodic paralysis
Summary
Organizations
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: https://www.periodicparalysis.org -
Periodic Paralysis International
2235 B 36th St. SW
Calgary, Alberta, T3E 2Z3 Canada
Telephone: +1-403-244-7213
E-mail: https://hkpp.org/contact
Website: https://www.hkpp.org
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/
Learn more
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.
References
- Rubin M. Familial Periodic Paralysis. Merck Manual Consumer Version. 2017; https://www.merckmanuals.com/home/children-s-health-issues/muscular-dystrophies-and-related-disorders/familial-periodic-paralysi.
- Rubin M. Familial Periodic Paralysis. Marck Manuals. Professional Version. 2017; https://www.merckmanuals.com/professional/pediatrics/inherited-muscular-disorders/familial-periodic-paralysis.
- Hypokalemic periodic paralysis. Genetics Home Reference. 2007; https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis.
- Hyperkalemic periodic paralysis. Genetics Home Reference. 2013; https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis#genes.
- Andersen-Tawil syndrome. Genetics Home Reference. 2006; https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome.
- Sripathi N. Periodic Paralyses. Medscape Reference. May 18, 2017; https://emedicine.medscape.com/article/1171678-overview.