SCA 44

[lonesome]

After a long wait of 9 years I've got a definite diagnosis of SCA 44.

Anyone else have this?

[wobblybee]

🙂 I used the search box on here, and also searched several other Ataxia Support Groups for SCA44. You seem to be fairly unique for now 😉 Of course that’s not to say there are no other people with this type, it’s just that they may not be members of common Ataxia Support Groups 🙂

🙂It may surprise you to learn that 9yrs is not unusual, many people report lengthy waits for diagnosis 😏 This inevitably causes stress and frustration because of confusing, and often challenging symptoms, but you are in fact fortunate that your specific type has been identified 🙂

Reliable easy to digest information about ataxia can be found on ataxia.org.uk and ataxia.org 🙂xB

[benning]

Frankly,i have waited it seems like forever but still no diagnosis and i am sick of waiting . What will be will be??? I refuse to put my life on hold..And they want all this money for research,into what,f.... JOKE.

[sunvox]

Really sorry to hear about your diagnosis and the time it took to get it, but heres a tiny bit of hope to consider. . .

This is a quote from a paper on your disease published this past September. SCA44 appears to be in a class of it's own. I, for one, suggest bringing this paper to as many doctors as will see you until you find out what the researchers meant:

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"Crucially, the gain-of-function mutations could be pharmacologically modulated in vitro using an existing FDA-approved drug, Nitazoxanide, suggesting a possible avenue for treatment, which is currently unavailable for ataxias."

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

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cell.com/ajhg/fulltext/S000...

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Joe in NY

[Meara]

My 2 1/2yr old daughter was diagnosed with sca 44. May I ask you symptoms as an adult?

[grubs in reply to Meara]

Three family members have it but all were diagnosed in their 60s. Problems with walking, talking, hearing, hand and eye movements.

[grubs]

Yes - my wife, my brother-in-law have SCA 44 and my mother-in-law had it. All with age of onset in their early sixties. Treatment suggested in "Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44" using Nitazoxanide is of great interest. If anyone has further info on this idea let us all know. Thanks