SCA 44

[lonesome]

Hi all....has anyone on here got a diagnosis of SCA 44?

[wobblybee]

I search Facebook Ataxia Support Groups..and very little mention there. Although..one person said she’d tested positive for SCA 13 and SCA44..

🤔It’s possible she’d meant SCAR13...GRM1 mutation

A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-13 (SCAR13) is caused by homozygous mutation in the GRM1 gene (604473) on chromosome 6q24.

omim.org/entry/614831

[PatsyIpswich]

No sorry. Don't know anyone either x