adult onset Tay-Sachs

[Stellatum]

I'm posting this here because in all my research (I went 15 months without a diagnosis) I never came across adult onset Tay-Sachs. The presenting symptoms sound like MG. I know that there are people here who are undiagnosed. I hope it doesn't cause anyone unnecessary worry for me to post this here. I just wanted to add adult onset Tay-Sachs to the list of diseases that people with undiagnosed neuro-muscular symptoms should consider.

http://well.blogs.nytimes.com/2012/0...-crooked-walk/
(that's the column that describes the symptoms.

The solution is here: http://well.blogs.nytimes.com/2012/0...d-walk-solved/

The featured doctor is my neurologist's partner.

Abby

[teresakoch]

I never realized that Tay-Sachs occurred later in life - thanks for the info!

Here's a link for general information, for anyone who may be interested:
http://en.wikipedia.org/wiki/Tay_Sachs

[Stellatum]

Infantile Tay-Sachs, which is fatal, involves a complete lack of a certain enzyme. Late-onset Tay-Sachs involves a deficiency of the same enzyme. It's extremely rare, but probably not as rare as we think, since it gets misdiagnosed as ALS and MS, I think.

My ancestry is 100% Ashkenazi Jewish on both sides. Since my troubles started with a weird gait and balance problems, and since I don't have eye involvement and I'm sero-negative, I may ask my neurologist what he thinks. There's a blood test. But I'm pretty sure that the variability of my symptoms, and the fatiguability, rules it out for me. I also don't have any of the psychiatric symptoms that are often associated with it.

Abby

[torahpsych]

My son has LOTS (Late-Onset Tay Sachs), without the psychiatric presentation that some other patients have. the presentations vary widely, so don't assume you don't have it just because you are missing some possible symptoms. Eye involvement is usually not a symptom (in one study, all vision and eye related issues were normal except for barely measurable differences in saccades), but almost all patients have issues with balance and gait.
best of luck

[Stellatum]

Originally Posted by torahpsych

My son has LOTS (Late-Onset Tay Sachs), without the psychiatric presentation that some other patients have. the presentations vary widely, so don't assume you don't have it just because you are missing some possible symptoms. Eye involvement is usually not a symptom (in one study, all vision and eye related issues were normal except for barely measurable differences in saccades), but almost all patients have issues with balance and gait.
best of luck

Thank you for taking the trouble to reply. We wish your son the best. When I first came across LOTS, I wondered why it took me so long to find it, since I spent so long trying to find a disease that matched my symptoms. But the reason is that LOTS is so very rare--I think I read that there are only 200 people in the U.S. diagnosed with it, though I understand that there are probably many people who have it who are misdiagnosed as having ALS and other diseases.

I have seven siblings (I'm the second oldest, and I'm 45), so if it's in the family, I expect it will show itself soon enough, though my mother had many miscarriages.

Abby

[Stellatum]

Torahpsych, if you're still there: can you tell me whether your son's LOTS (and other cases you've heard of) has variable symptoms? That is, are the gait and balance troubles worse some days than others, and worse during parts of the day? Thanks.

Abby