Hypokalemic periodic paralysis
- Westphall disease
Your QuestionDo you have more information about the prognosis for hypokalemic periodic paralysis? I have this condition and my son has it too. He has just become a father of a lovely baby boy. My son is also worried that he will have passed it on to his child.
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Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. See below for a list of online resources that can assist you in locating a genetics professional near you.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Hypokalemic periodic paralysis. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition=hypokalemicperiodicparalysis. Accessed 4/20/2010.
- Dugdale DC. Hypokalemic periodic paralysis. MedlinePlus. November 30, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000312.htm. Accessed 4/20/2010.
- Sternberg D, Tabti N, Hainque B, Fontaine B. Hypokalemic periodic paralysis. GeneReviews. April 28, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hpp. Accessed 4/20/2010.