Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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I would like to obtain information about episodic ataxia type 5. My 44 year old son has been having serious ataxia episodes for a year. He was recently given a DNA test and the results show a heterozygous missense mutation of the CACNB4 gene. There seems to be little literature available online. Most articles require a subscription. Can you direct me to educational information? See answer