Autosomal Recessive Spastic Ataxia (POLR3A gene affected)

[JT0621]

Hi, I was wondering if anyone else has been diagnosed with Autosomal Recessibe Spastic Ataxia? When I was diagnosed in June 2021 Proffessor Hadjivasiliou at Sheffield told me that there were 11 other people in the UK with the same diagnosis...and I'm hoping to track some people down to connect.

It can be such a lonely time with such a rare Ataxia diagnosis.

My name is Jess, I have two young children and live in Shropshire, UK.

[edfosho]

Hello Jess,

While I do not have an exact match to your diagnosis, I do have an Autosomal Recessive Cerebellar Ataxia (ARCA), SYNE1 affected gene. Similar in name, not sure of the scientific relationship though!

Like you, I was on the look out for others affected by my seemingly rare type of hereditary ataxia after diagnosis - mine was May 2021 from Prof Giunti at the London Ataxia Centre.

Here's my HealthUnlocked post two years ago: healthunlocked.com/ataxia-u...

  wobblybee kindly linked me to 'MalaCards: The human disease database' website. I was struggling to find much due to the naming of the disease not being consistent. I later found out from an ataxia researcher that some rarer types may have several names or abbreviations, mostly due to the scientific community working with such little data.

I did a search on MalaCards for the POLR3A gene: malacards.org/card/spastic_...

Hopefully this may help in regards to finding alternative names or related diseases.

Also, "It can be such a lonely time with such a rare Ataxia diagnosis." - you're spot on, it's difficult. Search on Facebook too.

Edit: See the PROSPAX project too - prospax.net/project/ - it may be of interest. Handy infographic at the Ataxia UK website: ataxia.org.uk/wp-content/up...

Ed

[paul456]

Hi Jess

Having completed a first aid course and had a read on Google I still haven’t a slightest clue what it all means but that’s not a surprise when you have the same IQ as a dead fish 😂😂. I have SCA 6 and I thought that was complicated.

Good luck to you my friend I hope you find someone with the same condition.