Genetic diagnosis

[ww-wibblywobbly]

Hi all, sorry I haven't posted anything for ages but sometimes life is like that. I have finally got some sort of diagnosis. I had more genetic testing a couple of years ago and they have found that I have two anomalies on gene SPG7. This means that my disability is more spastic based than ataxia. I don't yet know if I have the complex or simple version - obviously hoping it's the simple one as there's a lot less other medical problems with it. Anyway now I'm not sure if this is the correct forum for me or not? Has anyone else been diagnosed with a spascisity illness?

[wobblybee]

Hi🙂 A friend locally (UK) has a diagnosis of SPG7.

She would like contact if you are interested.

There is an SPG7 Support Group on Facebook.

[ww-wibblywobbly in reply to wobblybee]

Hi, yes that would be great 👍. I'll message you privately xx

[Tallguy101 in reply to ww-wibblywobbly]

Hi at my previous to last neurologist visit before my diagnosis of sca 48, I was told that spastic paraplegia and ataxia share a lot of symptoms a bit like a Venn diagram if that makes sense. At that time I looked at the SPG support group that wobbly bee mentioned on Facebook.

[Cuds]

Hi It's good to hear that you are getting closer to a firm diagnosis and I hope this means that you may be able to access some treatments for your symptoms now. Many of the ataxias have spasticity as part of their symptoms so if you find the forum useful then I don't see why you should leave it. I think Ataxians are a welcoming bunch of people and would have no objections to you staying in the forum of it helps you.... Bon courage!

[suzie44na]

Hi, I have found out not long ago that I have a faulty gene on the SPG7 , so I am hoping to see a specialist to see if it is my definite diagnosis.

Suzie

[Jingle1967]

I have a diagnosis of Spastic Cerebellar ataxia with the possibility of MSA type C. I’ve had genetic testing done but I’m awaiting the results. I’m on my third neurologist. The first two just said Cerebellar Ataxia, but the third has been much more thorough

I don’t understand what the difference is. I know what MSA is, but I don’t know if Spastic Cerebellar ataxia is different from Cerebellar Ataxia. Perhaps someone could enlighten me?