Newbie: Possible episodic ataxia? Started only 3 weeks ago...

[AnnaP2016]

Dear all,

My name is Anna. I am a 30-year-old healthy (until recently) woman. Really appreciate if someone can give me some advice on how I should find out what I have. Reading up the list of symptoms, I feel episodic ataxia matched best to what I am currently having.

I was a fit and very active person until recently. I often cycled 100+ miles a week in and out of London. On Aug 16th, I felt extreme exhaustion and wobbliness after I cycled in for work (25 miles). From then on, I experienced dizziness and difficulty in balancing myself. The symptoms got worse so I went to see a senior nurse 3 days later who thought I had vestibular neuritis so I got Prochloperazine. I had nystagmus at that time, which days later disappeared.

On August 24th I noticed that my speech was slightly effortful, and I had difficulties in handwriting. I could not do the tongue twister like I normally do. On Aug 25th, I was walking home after the meal and all of the sudden I lost control to my right leg completely. I collapsed on to the floor. I tried again but could not walk without falling to the ground. My speech was also markedly slowed. I went to the A&E and underwent MRI and CT, nothing abnormal was found in the scans. My right leg and hand were weak.

My ataxia to the right side of body and speech difficulties come and go. At the beginning, the duration of the attacks was long (hours) and the symptoms were severe, later on for 3 days the symptoms were short but very frequent (can have on-off 20 times a day with diff symptoms). My speech was very slowed (but not slurred) and monotonous. In the middle of my speech, I sometimes recovered the speed for a a minute or so and then fell back on to the slowed speech. It was quite a phenomenon to witness I think.

My right leg were on and off in its functionality, as sometimes I could lift it and walk a bit, but other time I had to drag it along). Each attack could last between 3 minutes to 30 minutes (or hours at the beginning). I also had difficulties in using my right hand (writing, using utensils, picking a pen up, or using touch screen with the right amount of pressure etc). Before each attack, I could feel pressure against the lower back of my head (but no pain). All these symptoms varied in degree of severity and they are switched on and off without much warning. I had 2 days (Sep 1st and Sep 2nd) being relatively symptom-free.

I am a lot better than a week ago. However I am still not free of all these symptoms, and I feel some of the symptoms have evolved. From time to time I had difficulties in walking and mild slowness in speech. From time to time I also have incoordination to my upper body, like it was swaying a lot when sitting or walking. I also notice when I am feeling a bit stressed or over-exert myself such as walking too fast, the symptoms would flare up. However the symptoms might come even when I was feeling relaxed and positive. I do not have tremor or problems with my eyes, but I do feel nauseous from time to time.

Doctors do not know what I have and just told me to carry on and live my life. They said it might disappear and never come back but I am not entirely satisfied with the answer. The neurologist concluded it might be migraine even though I had no headache, no aura, or other sight problems, other than pressure to my back head.

I feel you guys who have gone through it might know better than doctors. I continue to feel that my body is a bit 'off' even when I'm not showing overt symptoms. I lead a relatively healthy and well-adjusted life, and I do not have too much stress from work.

I don't have a family history of ataxia, although my mom does suffer from migraine. Her migraine is kinda atypical as it is not to one side of the head, but to the lower back of her head (like me). She has no aura with her migraine.

Is there any way you would recommend to get diagnosed? I am just a bit lost as I do not know what I have. I can hardly focus on anything else other than thinking about it...

I have kept a diary if you wish to have a look. Let me know if my experience resembles to that of yours, especially if you also experience rapid on-off symptoms.

Thanks so much for your time. Any advice is welcomed.

Best

Anna

[AnnaP2016]

Sorry I just realised that the system resizes the image...! most in the list were also in the thread message.

[Roshidah]

Hi Anna, I think it might be possible that you're having episodic ataxia based from your reports above. I have similar symptoms like yours, but usually I'd be hospitalised because on every attack i couldn't walk, and sometimes unable to move my hands. My type is more on the type 2, because it'd take over a week for me to recover back to normal. Even after discharged from the hospital, i'd still have problems with my balance, walking posture, and performing fine movements (typing, writing, scrolling the phones, chopping the vegetables, washing the dishes, ironing clothes and etc.). It took about 6 years for the doctors to finally able to diagnose my disease as Paroxysmal Cerebellar Ataxia. They said that ataxia diseases are very difficult to be diagnosed because very few cases can be detected through MRI scans. Most of the doctors doesn't have experience with ataxia diseases. I got my symptoms diagnosed after went to the third hospital. I'd suggest that you try to find other neurologist in your area who might have experience handling ataxia case.

[tedjohnson in reply to Roshidah]

Dear. Anna

I would suggest you contact Ataxia UK and ask them to send you their full pack which covers various facts and help. Being a charity they would probably appreciate help with the postage but that is up to you They will also give you details of various contacts and groups which I hope you will find helpful

Best wishes. Ted

[AnnaP2016]

Thank you guys! It is useful to know that it may take a while to get diagnosed. I will adjust my expectation for a quick answer and try to get my life back on track. Hopefully it will not take me 6 years to find out what it is. Roshidah I guess I am still in the process of getting back to the normal state after the severe attack a week ago as I am still very unstable at the moment. Ted, I will certainly contact Ataxia UK for more information (and make donation!). It is great to come across this forum I really feel less isolated. Really appreciate your replies! Best wishes to you all. X Anna

[patriciagrant]

I am surprised and appalled that the neurologist has been off hand. I know from my sister who is a GP that some neurologists are awful and she would not want her patients to go and see them.

I've had ataxia for about 25 years and the neurologist at the national hospital gave me every test under the sun until they were able to give me a correct diagnosis. I was originally seen at the national, as my local neurologist felt they were the best place to consider my symptoms and MRI. I am very happy with the neurologists at the national, and they have a specialist ataxia centre there too.

I hope this is of use

[AnnaP2016 in reply to patriciagrant]

Thank you Patricia! I will certainly push my GP for a referral to the UCLH if my symptoms do not abate after a couple of weeks. It is really useful advice to know where to go to. Really appreciate the advice. I know doctors feel they need to put up a front that make them look like they are in the know, even if they are out of their depth. I kinda just wish them to tell me honestly that this is something they are not familiar with and advice me to seek further opinions etc. Thanks again!

[Ralphiena]

Hi Anna,

My symptoms are remarkably similar - combined with a neurologist who's advice to me was essentially "just walk properly" (sic).

I am also experiencing pain in my joints, severe fatigue and various other symptoms leading to possible diagnosis of celiac disease. One of the many blood tests reveal low magnesium levels and Fe (iron). For me I would suddenly lose control of my legs causing the to collapse under me plus speech difficulties that you have described.

I understand from my limited research that ataxia can sometimes be caused by nutritional deficiency - especially magnesium - so this might be one line of enquiry to rule out since it appears to take a long time to identify this root cause. Obviously your symptoms could be caused by many other conditions but might be good to rule out this one early.

Best wishes on your search for an answer and please do update this post with any conclusions.

Kind regards

R

[AnnaP2016 in reply to Ralphiena]

Yes I am trying to eliminate any possible causes now. Trying to take supplements, eating gluten free diet etc. I know when I get emotional my symptoms become very bad. I am trying to stay calm and just be patient with myself. Will definitely update the post. Thanks! Fingers crossed our problems can be solved by simple answers! Can you tell me if your episodes are also on-off in nature? And does emotion affects the frequency and severity of each episode?

[Maysan71]

Hi Anna :)!

I am from Sweden with SCA 7 and you should be strict with glutenfree and cowmilkfree diet.

Try Ginkobiloba 120mg twice morning and night it helped me with better circulation in my head/brain almost instantly.

good luck and food is medicine

[Missile]

Hi Anna, my symptoms are extremely similar to yours and 3 years down the line, despite spending a week in UCLH they are still not sure but they and my neurologist in Cardiff are fairly sure I have an Ion channel disorder, which can include Epsiodic ataxia 2, you might want to look up Paroxysmal Kinesigenic Dyskinesias ( a mouthful, I know). My symptoms are brought on by any exercise, caffeine, fatigue and severe stress( i.e if I get emotional). I can sometimes not walk properly for days, but sometimes I just a few hours, and the fluency of my speech goes too, and occasionally slurs. Sometimes it just happens too . which is frustrating...

It is interesting that all these things share a gene with migraine. I was really active too, but have had to slow down sadly but still living a reasonable normal life. Good luck.

There are loads of good neurologists out there, just find one who talks to you as a person and knows about these conditions, some don't as these are very rare and slightly bizarre conditions and the neurologists who don't know about them often think that you're mad!!!!

All the best,

Missile

[AnnaP2016 in reply to Missile]

Thanks for sharing your story with me. I have checked PKD up I guess the only difference is that I do not have involuntary movement. However it is still a possibility. At the moment it's just difficult to decide how active/inactive I should be and how much stress I should put myself under for work etc. I guess life carries on regardless. I will definitely try to push to get seen by UCLH. Yeah I have come across several doctors who seemed to think I am just some hysteric woman (one doctor actually compared it to menstrual pain, which I think was insensitive). Thanks for your encouragement. I wish you all the best as well. I want to exercise and stay fit! It's annoying to slow down so dramatically...just have to get over it I guess... Thanks again!