Just been diagnosed with generalised Dystonia myoclonus type

Hi Mandy,

Sorry to hear about your daughter, and Focal Dystonia. I assuming by Focal Dystonia, she has problems with involuntary muscular contractions and abnormal postures, with her foot.

Normally, Focal means a muscle or a group of particular muscles in the body, but I am surprised the Doctor has stated for her to wear a 'splint'. I had Focal Dystonia but this progressed to Focal Segmental Dystonia, with Torsion Dystonia and last year, I was classed with 'Generalized Dystonia', which basically means it effects all limbs.

I also have Focal Dystonia - which causes me to walk with a severe 'gait' (foot twisted inwards), however I have never had to wear a 'splint' (this would cause unwanted pressure on the leg and foot). Is your daughter within the UK?

Dystonia is one of those illnesses that currently has no cure, well I say that but I was offered a cure with a brain operation wayback in the late 80's, but the actual success rate out-weighed the cure, it was something like only a 5%-10% chance of success, so I opted out - and obviously lived with it ever since.

It can be controlled by medication, however what you normally find is what works with one person, does not work with another. I've been through many over the years, it is at a stage now where I would not wish upon anyone.

Initially, I was taking Artane, Clonazepam, Madopar (this can be taken in high levels, but you need to be weaned on to them) and every 12 weeks a visit to the hospital for Botox injections (believe me these hurt, for about 30 seconds, but does depend on the muscle spasm at the time). With Botox they can increase doses and the period between adminstering, at the moment I'm on a 12 week period and low dosage. However, that failed so now I am having them on a 10 week gap and larger dosage. Basically, the pain in my muscles became that painful that they put me on Tramadol!! This maybe a good pain relief, but not in the long term, it is addictive and can cause side-effects, and worse of all it can cause seizures.

I noticed you mentioned 'non Eplieptic seizures', I am assuming your daughters Consultant Neurologist is suspecting 'Functional Seizures' - I can give you more details on a UK Consultant Neurologist if you PM your email address, he actually specializes in this field of Neurology, and is known by many top Neurologists - he has his own website detailing symptoms and ways of controlling them. It certainly is packed with information if you need it, not all Neurologists know of the types, Dr Jon Stone lists around 28 known types - I actually gave his website address to my own Consultant. I would give you the website address on here, but that sends this post into moderation.

It is normal for a person with Dystonia to also suffer from Epileptic or Functional Seizures, because both are related by the nervous system. That's why I never had a seizure until I got Dystonia.

A word about Botox, this injection causes the muscle to lower spasms or even stop, but Neurologists are a bit skeptic regarding lower limbs, due to the fact you would have a strange feeling. My Botox is injected in to both sides of the neck and shoulder, it feels like bee stings if the muscle is very tense at the time. The alternative route is Madopar, this takes a few weeks to wean you on to the system, the same applies to Botox. There is also a cooling off period with Botox where you can feel spasms coming back, usually 2 weeks before the next lot is due.

It may sound stupid having a cooling off period on Botox, but Madopar has the same effect - so once you are on the correct doses they work together. The Tramadol - well, let's just say that's basically poison, it maybe instant pain relief within a few days, and I stuck on 150mg a day - if I drop it at all, then I get side-effects from other medication.

Hope this information helps you and your daughter.

Regards,

Les.

 

Hi there disabled_les,

thank you for your reply.  We are in Cheshire UK, so we are seeing consultants in Walton Centre, the splint she wears os mainly to help her walk as without it she can hardly get around at all, her foot is at right angle inwards and she is in so much pain that she can't walk without the aid of the splint and her two crutches, then it's only a few yards if that.

How do I private msg you on here?.

Also, she is allergic to Tramadol she was given that last year and it scared us all as she lost her speech and couldn't form words properly she has stroke like symptons so she had to stop taking them and after a few days her speech slowly returned.

The neuro she is under at present has asked if there has been any traumas in her life which might have an underlying cause for this condition but basically, they don't know why she has developed it.

Thank you for the information, it is really helpful.

Hi Mandy, i'm real sorry for what you and your poor daughter must be going through. I have Cerebral Palsy (somewhat simple to a stroke at birth) with Athetoid tremors, so I can somewhat understand what you might or probably having to do an awful lot for your daughter, and thats tough for any mother.I know what having to wear afo's/splints are like and how painful they can be, especially with having extra movements and the sores they make. I know your daughter's mobility is extremely important to her but have she ever thought of using a wheelchair just for short periods so her foot/leg can get some rest, and if need be for going longer distances. I can only use my elbow crutches for a very short distance but use a wheelchair for all other times. I know you probably already show your daughter a lot of positive attitude, but I've seen so many overlook ever the tiniest of happy times.  I understand what mother's of social needs children must go through, i'm now 55 and my mom still worries about how I'm coping and especially when I'm going through a difficult time. Being your daughter's best friend is something you cherish later in life, and don't be afraid of sharing even the tearful times together, it will also help too.  Try and share a happy time together each day, more so at the end of the day as this will truly bless your daughter's mental health tremendously.  If Dr could all prescrib happy pills to those of us in chronic pain, this world would be a far better place for everyone, especially mother's... Take care Mandy and if I can be of any help at all, please don't hesitate to contact me. Mike 

Please excuse some of my mistakes and missuse of words,  but I'm also Dyslexic and sometimes auto- correct can be a challenge too..  

Hi Mandy,

I did actually reply to this yesterday, unless it was deleted - I'm sure I "Reply" though, perhaps I didn't. Oh well, The reason I asked where in the UK you are, is because I wondered if you were near London, where the main Neurology Hospital is situated (it used to be called the Queen's Hospital). I have aids to get around, and like Mike - one is a wheelchair, I have to have someone push me around, because I cannot steer left, that is frustrating for anyone. I also have a quad-stick, but rarely use it due to the pain I end up in, so I also got a quad-push (which is a seat that you can push, but also sit on if you feel pain coming on).

A good idea would be to get her Neurologist Consultant to refer her to a Occupational Therapist, they will look around her property and see how she would get on with various aids. Larger alterations can also be done this, if needed using a Disability Grant funded by your local council - An Occupational Therapist can sort this out, if she/he thinks your daughter would benefit in anyway. My wheelchair would not fit through our bathroom doorway, so they knocked out a partition wall and fitted a sliding door, it made my life so much easier.

There are many places that can help with aids, so your daughter gets less infections, two crutches would be rather difficult I would imagine - I know that would be impossible for me. You can get Zimmer frames with seats, which would be a better solution - the seat pulls down when you want a break - they are available in different widths, to enable people to get through tight spaces. An Occupational Therapist can do a lot for you, and chase things up, with me they informed me what should be happening next, they are great when you have problems.

I was asked if I had been through any traumas, or anything that I could think of that would of triggered the Dystonia off, sometimes you cannot remember because of mental blocks. But like your daughter I could not recall anything.

To send a Private Message, just click on the Envelope icon under my name on any post, or click on my name, then click on Envelope.

Anyway, that's a few more ideas and options you have to go on with.

Regards,

Les.

 

Hi Mike1959   thank you for your reply.

She does have the use of a wheelchair and to be honest she hates using it but is finding she really needs to if either myself or her husband takes her anywhere that means walking more than a few yards.

My daughter is 35 and you are right about mothers worrying about their kids no matter what their age is. 

If I could change places with her I would do it immediately I think any mum would. x

I guess from some of the words you use you are not from the UK, do you have more knowledge of Dystonia where you are? UK is pretty much new to this condition, when my daughter went into hospital a few months ago the ambulance/paramedic asked what was wrong with her as she was having a spasm, when they were told it's Dystonia they said they would 'google' it on the way to the hospital! they thought the had epilepsy.

I am sorry for your own many health issues, I hope you are doing as well as can be at the moment and yes to those happy pills, I would buy shares in it.  Mandy 

Hi Les,

thank you for your reply.

My daughter and son in law are living in a bungalow so stairs and such like are not a problem, they only recently got this as the stairs in their old house were too hard for her to get up, her hubby was carrying her and although she is only dinkie it was hard for him and dangerous in case he fell with her,

I checked out the site you mentioned, it seems like this Jon Stone is quite a trail blazer and really knows his stuff.  It's great to know we have some good Doctors who are also reasearchers in this country.

I hope every day that some bright young researcher comes up with some answers that might eventually lead to some practical help with regard to preventing or even curing this cruel condition.

I hope you are having a reasonably comfortable day as I know this condition never gives totally good ones. Thanks again for the reply. Mandy 

Hi Mandy,

Dystonia is really new to the UK, when I was diagnosed it took 2 years by Professor David Marsden Neurology Specialist from the US, I had to go to appointments in London to actually see him. I was around 22-23 years old - back then I was the seventh known case in the UK, this number has increased drastically since that time.

There are numerous sources on the net that go in to detail about Dystonia, it is normally associated with MS - the numder of times I have corrected people, usually Paramedics or normal Doctors. When I first got it, my own GP thought I had been injecting myself with illegal drugs, because he had never seen anyone like it before. So, I had to keep him up-to-date with the actual outcome. I have certainly never done illegal drugs or even alcohol, being accused by your own doctor was beyond me - he apologised when the diagnosis came to light nearly 2 years later!

I'll message you with information that will be more useful to you, it seems the messages are being moderated on here.

Regards,

Les.

Yes, I'm from New Zealand Mandy and I'm extremely lucky to have a very knowledgeable GP that's up with medical journals and new medicines. I also go to a rehabilitation hospital every 5 years so the team of Neuros and therapists put me through a very intense medical assistant, just to make sure i'm on the right dosage of medications and sometimes try newer meds that might be more helpful. I was put on a new med the last time I was there called Sinemet that's a Parkenson's med but can also be very helpful with Dystoina movements. It took me quite a few month to get use to it as it gave me trouble with Nausea but I'm heaps better now.

Im very new to Hyperthyroidism but my tests scores are still quite low, so I'm very  lucky so far. I've always had spasms and a tremor but there starting to get worse, as are night cramps in my lower legs and feet.. Heating up and headache are also becoming an issue now too, and my mood can also be quite challenging and inbarresing at times as well.

I don't want to go onto meds unless I absolutely have to, and my GP is respecting my wishes. I'm already on quite a lot of meds for my other Disability so it gets difficult and I often get drowsy now. Reading some other posts can get scary so I'm praying my systems don't get that bad Mandy..

If you ever need to talk I'm always here to offer an ear, I'm actually a trained Disability Chaplain..

Take care Mandy and please pass on my regards to your daughter for me.. 

Hi

yes it would be good to hear more about clonazepam. I've been on it for about a year now combined with propranolol which was added a few months after the clonazepam. The 2 combined certainly reduce most of my symptoms. Since diagnosis my neck is became affected and now my larynx. I see a voice ENT Consultant every 3 months and a speech  therapist fortnightly. I've adjusted my diet to help reduce choking and coughing. The most pain I get now is from my neck which has become shorter on the right side and my head position is affected. Still have the overall tremor but it's manageable with the meds. I also take sertraline but am trying to taper off these as there the only meds I have control of.

i was worried at first that I would have to have medication all my life but it's working for me and my Neurologist told me there is no reason why they should become less effective over time. I've taken early retirement in June this year which has made a huge difference.

hope you are managing ok, let me know your thoughts on the meds x