Dystonia?

**Warning if you hate feet, photo’s of feet this post is not for you”

I have had painful spasms in my feet for as long as I can remember, for a long time I have just assumed that it is part of the Ehlers Danlos Syndrome I have and just put it down to that but I have always felt it was odd that it was only really my feet that were effected. EDS is a connective tissue disorder and connective tissue is everywhere throughout the body, so in reality more parts of me should be going into spasm than just my feet alone. After a particularly bad week with it back in late February / early  March ( before the world went mad ) I ended up consulting Doctor Google to see if there was an alternative explanation (differential diagnosis ) for what was happening, low and behold there was Focal Dystonia.

When I worked out what the issue was it was clear that the UK would soon be heading for lock-down and I didn’t want to be in or around a health care setting for anything that wasn’t urgent and when I say urgent I mean life or death. So I decided that when the madness had passed I would seek medical help but this evening ( I’m talking about Tuesday in Wednesday ) I have been in so much pain with the muscle spasms / contractions I am kicking myself that I didn’t do anything about it. Not that there is a cure but I may have had better medications here to cope with or stop the contractions. When it is as bad as this the pain is no longer just in my feet but travels up my calves along the ligaments and tendons. I can feel the spasms moving along them until it hits my feet and then a wave of pain starts as my toes begin to distort themselves, in rather bizarre ways. I have no control over it at all. I can grab my toes, massage my feet but the minute I let go they once again return to their painful contractions. Often whilst I am attempting to force them out of their distortion I can feel the pain building up again which means another spasm is on its way.

There is no stopping it as the minute I let go my toes move without any conscious effort from me. On a bad night, it is almost always a night I get this, although when I have a very bad night during the day I can feel less powerful spasms on and off all day like I have today, nothing will stop the spasm. Massage will only provide a very short period of relief often just seconds. The only thing I can do is ride it out, apply heat and hope that it eventually goes away.

I have found it very difficult to capture images of my feet as the spasms can be very subtle. Unless you know what you are looking for it can be difficult to see why I am in so much pain. The spasms are always focused around my toes but the pain is felt throughout my feet. On occasion you can see the tension in the skin on my foot as my toes are trying to move in two separate directions. Almost always my big toe and the toe next to it want to go one way whilst everything else goes in a different direction. Spasms have been so strong in the past they have dislocated my big toe ( agony). I have raised this with doctors before who just look at me as if I am a sandwich short of a picnic. Where as now after checking it out on line there is a very real possible cause for what has been happening. I managed to take some photos this evening – my feet are swollen due to the amount of salt tablets I have to take and the toe nail on my big toe is a mess due to having the sides removed over ten years ago due to recurrent ingrowing toenails so my apologies. But without the photos you may not “get” it.

On this photo my big toe is pulling out and down, at the start of a spasm.

 

Just a few seconds later my big toe and the one next to it are twisting and pulling forward whilst the remaining three toes are curling toward the sole of my foot.

In this photo taken a few seconds on again you can see the big toe and the one next to it looks like I am flexing it forward and curling the other toes back. 

As I said it is hard to capture especially as it mainly only shows in my toes and make not look that strange to other people but the pain it produces is off the chart.

I managed to get this short video

The gasping noise is me due to the pain the movements are causing me. This was taken at around 9pm last night and it is now coming up to 2am and my feet are both throbbing still from the pain this 30 minute episode caused me. The pain and weird feeling I get afterwards extends all the way up to both knees. It is always my left foot that is affected the worst and whilst this was happening my right foot was joining in to a lesser extent.

I ended up having to take some pain relief and applying a heat pad to relax the muscles and to stop the contractions. Once an attack is underway I have to be very careful how I move my feet for several hours afterwards as it will trigger another round of spasms. Although to be honest it doesn’t matter how I move if they want to spasm they will I have zero control over them.

I have noticed it gets worse if I am tired / stressed / unwell ( more than normal). I have been pushing myself too hard lately and need to drop down a gear, which will be hard for me to do as I feel guilty when I don’t get all my jobs done.

People have suggested that it is low B12 levels that are to blame for this but as I self inject on a regular basis due to my deficiency being under treated on the NHS I really don’t think that is the case. Plus I have some many neurological things going on that I really wouldn’t be surprised if it is all part of some yet unexplained genetic syndrome that I have.

So for the moment I will just try to capture as many images as possible showing the distortions / muscle contractions so that when the situation with Covid-19 resolves or just things go back to a new normal I can show the doctors who treat me.

Clutching at Straws

The letter I had been dreading the arrival of turned up on Saturday. I had almost begun to believe that such was the inflammatory nature of it contents that, I had been denied a copy on the grounds it would be perilous to my mental state. The letter was from the neurologist I saw at the end of July. It’s contents were only slightly better than anticipated.

 

I had believed that the letter would suggest CBT or a visit to see a neuropsychiatrist. It wouldn’t be the first time it had been suggested due to my obscure symptoms and the belief on the various neurologists part that because they didn’t know the answer my symptoms were psychological rather than physiological.

 

I have now been diagnosed with Hemifacial spasm of unclear cause. Now for those of you who don’t know what a Hemifacial spasm is, it’s basically a muscle spasm in your face. Having done a little digging around on the internet I have found out that Hemifacial spasm can be due to Dystonia, MS, Compression of a facial nerve, lesion on the brain stem, brain tumour or of unknown cause. It is also an incredibly rare condition with Patient Info (https://patient.info/health/hemifacial-spasm-leaflet) stating that it affects 4,000 in the UK.

 

The only problem with this diagnosis is that this never started out with the twitching that is described by every website I have read over the weekend. Google Hemifacial spasm and one of the first things you will read is muscle twitching.  Of course I have had muscle twitches but they have never been so bad that I have sought medical advice for them. This spasm / ptosis / condition came on overnight. Also it is the right side of my face that is affected, where this condition mainly affects the left side of the face. Hemifacial spasm is not treated by the use of mestinon so this diagnosis ignores the response I have to this medication. So it’s the usual horse shit that I have got very used to over the last ten years.

It’s not the first time I have heard of someone with ptosis being told that they have Hemifacial spasm. I can remember years ago on a forum a woman in the UK being told the same thing, despite mestinon resolving her ptosis and her not having muscle twitches. It seems this must be the go to diagnosis when they can’t admit they don’t know or if all signs are pointing to MG.

 

Apparently according to the letter “On observation of the facial problem today although there was some flattening around the corner of the mouth, the predominant problem is in fact of eye closure on the right hand side rather than ptosis, ie there is a contraction of the orbicularis oculi muscle rather than a weakness of the levator palpebrae superioris. The remainder of the facial movements were at times a little limited….” All this without actually doing a neurological exam, assessing the strength of my eyelid closure etc? *Sarcasm*

 

All the medical papers I have read so far in a limited time period have said about the corner of the mouth being pulled up by the muscle spasm in Hemifacial spasms. That doesn’t happen with my mouth, the corner of my mouth droops. I have in the past had muscle spasms where the side of my mouth has pulled back but it’s not lifted up or dropped down. It also prevented me from opening my mouth and I ended up with a NG tube in for a few hours.

 

I am a little sceptical at this latest diagnosis, as you have probably guessed because it really doesn’t fit properly. There are aspects of it that do fit like the muscle spasms I deal with on a daily basis in my back, hips and feet, if the diagnosis was generalised Dystonia, which can run alongside EDS. However my ptosis never resolves with heat, which if it was a muscle spasm you’d think the heat would be enough to relax the muscles? The only thing that resolves the ptosis is rest, ice or mestinon (pyridostigmine bromide).

 

However the doctor did pay me a massive compliment by knocking ten years of my age! In the opening sentence it says I met this 33-year-old lady…. Happy days or they were simply getting confused with the notes from ten years ago.

 

What really irritated me was that this doctor has claimed that there is nothing wrong with the muscles in my face, the nerves or the neuromuscular junction yet Hemifacial spasms are a neuromuscular disorder. Also according to https://www.bcm.edu/healthcare/care-centers/parkinsons/conditions/hemifacial-spasm website my EMG wouldn’t have been normal if I had Hemifacial spasm “ It will show irregular, brief high-frequency burses (150-400Hz) of motor unit potentials”.   When I found this out I roared with laughter, so apparently I can’t have MG because my EMG was normal but I can have Hemifacial Spasm with a normal EMG despite the fact it should show abnormalities. Welcome to the world of neurology where we change the rules of diagnosis depending on the condition.

 

The consultant has recommended I be treated with Botox to relieve the muscle spasms. However one of the side effects is developing Ptosis………………………I know you couldn’t make this shit up could you? Also Botox is contraindicated with MG. So would I really want to risk a Botox injection for a condition it seems highly likely I do not have.

 

There is nothing worse than a doctor clutching at straws, especially in this day an age where a patient can debunk their diagnosis in a matter of minutes. I truly believe that this is what has happened here, they know they can’t get away with saying there is nothing wrong with me so come up with this drivel. I am embarrassed for them.

Other links for information on Hemifacial Spasm

https://en.wikipedia.org/wiki/Hemifacial_spasm

http://www.empowher.com/hemifacial-spasm/content/hemifacial-spasm-uncontrollable-muscle-contraction-face

http://www.dystonia.org.uk/index.php/about-dystonia/types-of-dystonia/hemifacial-spasm