Hi everyone,
My mother has just been diagnosed with Spinocerebellar Ataxia 48. We have been told it’s very rare but this could be due to only recently finding this variant / the specific genetics test for type 48 being available.
I’d be interested in connecting with others who have the SCA-48 diagnosis to discuss and share experiences. I haven’t made the decision as to whether I would like to have the genetic testing but have an appointment in early June.
Hi I have had ataxia of until recently and unknown type since 2006! But on the last visit to my neurologist he confirmed that with the recent advances in testing that it definitely is type 48. My mum has it too, she is 84 and bedbound. I'm kind of glad that I finally have an exact diagnosis. I was also told that it is one of the rarer ataxias, but also that it has very slow progression! ( I only stopped working full time just over 3 years ago during the first lockdown). I'm 55 btw.
No but I am interested in replies and wish you luck. X
hello. how did thy know your is SCA 48 before you have genetic test?
thank you for your comments
Anneatregency - we didn’t know she had SCA 48 until the testing came back confirming the diagnosis. She has been under Neurology for 6years without a true diagnosis until now. Radiological findings confirmed severe cerebellar atrophy with hypo metabolism and some possible frontal lobe signs which lead them down the route of picks disease after ruling out every known ataxia in the book (before type 48 was known / could be tested). However we now know, the behavioural side to her symptoms can be attributed to SCA 48.
Tallguy101 - Thankyou for sharing. Yes from reading around the very little literature reported, it seems that this new rare type is slow progressing with no clear ‘modal’ age of when you become symptomatic. Obviously it’s dominant, so I’m facing the dilemma as to whether I get tested. As I understand that even though I may be asymptomatic, if I have the gene it can ‘switch’ on anytime. I am 35 with two young children. I’m sorry to hear you’ve had to give up work. Actually,your story reflects similarly to my mothers who had to give up work 7yrs ago (she is now 61). What are the main symptoms that you experience and which also contributed to you retiring early ? (If you don’t mind me asking).
Hi no problem asking, my mobility is the main issue with spastic gait and lack of balance, poor coordination in my legs and to a lesser degree in my arms. Double vision and some sluring of speech, particularly when tired. Some cognitive issues although fortunately they are generally pretty mild. Again worse when I'm tired, like at the end of the day. I used to ride a mountain bike off road, run, swim and play football etc... But that was 15 or 16 years ago, now I find it difficult to walk across the room with my breakfast....
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