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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 the KCND3 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
Potassium voltage-gated channel subfamily D member 3
The KCND3 gene codes for an alpha subunit of a voltage-gated potassium channel (Lee et al., 2012).
Changes in this gene have been found in individuals with Brugada syndrome 9 and spinocerebellar ataxia 19.
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!