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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures (read full description).
Nov 21, 2016
WNK lysine deficient protein kinase 1
The WNK1 gene codes for a serine/threonine protein kinase (Xu et al., 2000).
Changes in this gene have been found in individuals with hereditary sensory and autonomic neuropathy II and pseudohypoaldosteronism type IIC.
A change in this gene was also identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!