Anyone aware of spastic paraplegia?

[bizzey]

Could do with some insight right now.
Think D's is showing symptoms .
It is in the family.
How easy is it for me to get tested as a maternal carrier , when it seems to follow males affected.
Thanks

Sorry ..son is showing symptoms .
Other family members are male (dad and brother)
I am female ..no symptoms..but was told I could be a carrier .
Never followed up .

You need paediatrician referral to genetics service.

Ask paediatrician diagnosing ds to refer you
They will ask for family tree andcan test

Your GP can refer you to your local genetics centre for testing

geneticalliance.org.uk/information/service-and-testing/nhs-genetic-services-in-the-uk-2/

www.nhs.uk/conditions/genetic-and-genomic-testing/

Usually it's tertiary referral i e paediatrician a specialist
Not gp tho you could ask gp if they can refer

Thank you all so much .
DS is now 17 so I presume it is now adult referral ?

It has always been on his notes as we have been under lots of departments for 16 years .
But his left leg reflexes today ..got me concerned .
If I know I have not passed it on ...they can dismiss it and concentrait on other things .
Thank you again.

Does he want to be tested?
As he is now much older he gets to decide
So speak to him
And speak to geneticist
Wait lists may be long