Test for inherited erythromelalgia?

General
1

Does anyone know of a commercially available test for inherited erythromelalgia? My neurologist says that there is not one available now, but I see posts from people that indicate they have the "inherited" version.

2

I don't think there is a test commercially available. Those who are talking about having inherited EM have family members who suffer from it. The location of the EM mutation has been identified, so perhaps in years to come a test may become available.

The two most basic questions to ask yourself to see if it is inherited EM are:

1) Do any family members have EM (or the symptoms of it)?

2) Did your EM start in childhood?

I think most inherited EM started in childhood, so if you answered "no" to both, I think you're ok. I would suggest joining the Erythromelalgia Association so that you can access their library of articles on EM. You can find them at www.erythromelalgia.org there is a lot of information about inherited EM in the research.

3

Thanks for the info...

Don

starsmurf said:

I don't think there is a test commercially available. Those who are talking about having inherited EM have family members who suffer from it. The location of the EM mutation has been identified, so perhaps in years to come a test may become available.

The two most basic questions to ask yourself to see if it is inherited EM are:

1) Do any family members have EM (or the symptoms of it)?

2) Did your EM start in childhood?

I think most inherited EM started in childhood, so if you answered "no" to both, I think you're ok. I would suggest joining the Erythromelalgia Association so that you can access their library of articles on EM. You can find them at www.erythromelalgia.org there is a lot of information about inherited EM in the research.

4

Don,

My specialist (world expert in EM) is referring me for genetic profiling to see what my EM gene mutation is. When I see the geneticist I will pump them for information on a test you could request. I will let you know what he or she said as soon as I've been. If I can at least get the information of what the test would need to look for, that might allow you to be tested.

I know that the person my specialist is trying to get to profile me works in a lab that does help to develop commercial tests for diseases so I will also try to persuade them that it would be a good idea!

5

Thanks!



starsmurf said:

Don,

My specialist (world expert in EM) is referring me for genetic profiling to see what my EM gene mutation is. When I see the geneticist I will pump them for information on a test you could request. I will let you know what he or she said as soon as I’ve been. If I can at least get the information of what the test would need to look for, that might allow you to be tested.

I know that the person my specialist is trying to get to profile me works in a lab that does help to develop commercial tests for diseases so I will also try to persuade them that it would be a good idea!

6

there is no one in the USA there is a dr.ingo kurth in jena .germany that does some inherited test with dna

Dale