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Ataxia Support Network

Hi, I'm Mark


#1

My story began 8 years ago (age 40) when I started planting my feet awkwardly when walking on a sidewalk in NYC. This progressed to speech slurring and voice roughness in a year later (2011), and gradually increasing loss of precision in all muscle movements, head to toe. Speaking, maintaining posture, writing and even reading have become extremely challenging. I was an English major back in college, so this is quite a change! For me, my muscles has lost tone and atrophied at the same rate as my control issues have progressed, so my legs and arms becoming sticks.

The hardest part for me thus far is failing to get a diagnosis after more than 50 doctor’s appts over the years. Everyone agrees something is going on, but no one can say exactly what. It appears not be a known mutation. My last brain MRI (18 months ago) was clean. (BTW, is a brain MRI sufficient [it didn’t mention cerebellum in the report], or a cervical spine MRI needed to detect slight atrophy?)

Thanks for reading this. I’ve already found a lot of useful tips here.

Mark


#2

MRI of the brain should mention Cerebellum, if there’s anything wrong with its size.


#3

I should clarify, I meant ~50 appointments, not 50 different doctors! Though sometimes it feels like it…

If anyone here happens to have a neuro to recommend in NYC, I’m all ears.


#4

Hi Mark,

I have spinocerebellar ataxia type 8 and my MRI does not show any atrophy at this point but I do have significant symptoms; imbalance, clumsiness, dizziness, most foods increase symptoms, some vision disturbances and on and on.

I think the purkenje cells in my cerebellum are dying due to the disease but hasn’t shown up on the MRI. The only way I found out what was wrong with me after years of searching was genetic testing.

Kind regards,
Piper


#5

Hi Mark,

My husband and daughter were both diagnosed by genetic testing.


#6

Hi Mark, welcome :slightly_smiling_face: If there was any Atrophy of the Cerebellum, it would show up on a regular MRI. My Atrophy is said to be mild, but it certainly doesn’t feel like that’s the case. I’ve also had an MRI with contrasting dye, but it didn’t detect anything else. See this link for Neurologists in the US ataxia.org/wp-content/uploads/2018/11/US-Neurologist-Resource-List.pdf :slightly_smiling_face: xB


#7

In addition to my other email Mark, I wanted to mention it took years to get my diagnosis. During that time I made drastic revisions to my diet. I realized dairy products and gluten products caused severe symptoms so cut them out of my diet.

I then started cutting out anything that affects me (i.e. worsening symptoms such as imbalance, dizziness, double vision).

I don’t know if this will help but it’s worth a try if you want.

Warm regards,
Piper


#8

I can only share our story in hopes that it might help you toward a diagnosis. I’m caregiver for my husband. He is 72 years old and symptoms began 10.5 years ago, spring of 2008. He lived out most of his life as an over-active runner and avid golfer. Today, he is on rolator full time and requires a motorized chair for most trips out of the house. He went un-diagnosed for the first 5 years, then misdiagnosed with MSA (Multiple System Atrophy) for 2.5 years, then misdiagnosed with EA2 (Episodic Ataxia #2) for 2 years. His most recent diagnosis is called CANVAS. https://www.dizziness-and-balance.com/disorders/central/cerebellar/CANVAS.html We have gotten the most help from MUSC in SC at the Movement Disorder Department within their neurology department. Currently my husband is on no medications because each one he has tried have increased his symptoms. He eats as clean as possible, is on CPAP machine for his sleep and we try to keep him out of stressful situations. Prayers extended for you to be correctly diagnosed.


#9

sounds like the whole medicine world is against you? I am no specialist, but one thing I can tell you, I suffer from sca 2 over 2 years now, and to my great surprise, my muscle tone UNAFFECTED, so far. Had it all checked in the gym by a physio, once finished 3 months of exercise (every week 2hrs) and my cerebellum shrank quite visibly…

Mark I wish you all good fortune in finding the correct specialist,perhaps new MRI would help, 18 months is a long time…my bro has initial lesions, mri showed, but NOWHERE NEAR such troubles as you. and he only limps on one leg, heavily slurs, I caught myself leaving a message on the mobile. sounded horribly. I hail pc for my writing,cannot do handwriting, if anybody wants to read it…


#10

Hi Mark,
While it is, or may be true that an MRI would show atrophy, the radiologist and neurologist must look for it. My sister, who is also affected (we have SCA8), was told her MRI was clean and then when neurologist looked at same MRI, he saw atrophy and showed her. He said they didn’t look at it properly. So, I think it’s worth having another neurologist look or having a new one look, with the specific purpose of viewing the cerebellum for atrophy. We see Christopher Gomez at The University of Chicago. (USA). -Heather


#11

Thanks so much to everyone for the info. I’m having a rough go of it at the moment, so might not be on the forum much near-term. But I will try to get another neuro to make a look at my MRI next year. I have one from 2011 as well, so I imagine they should be able to look for changes. Additionally, they are considering mitochondrial disease.

I really appreciate everyone taking the time to help out, and I hope to be able to contribute more later.

Mark


#12

welcome to group… I am 76 years old and still get around with sturdy rollator.
It is very interesting to read the responses to your post as I have tried for over 10 years to get a defined diagnosis [other than presumed or idiopathic cerebellar ataxia].
Whatever the outcome, the best advice has been to eat healthily and exercise as much as possible.