Living with dystonia: disability, distress and despair

Recently an English lady suffering with longstanding cervical dystonia decided to end her life, with the help of Dignitas in Switzerland.. This tragic event reminds us as doctors how difficult it can be to live with dystonia. I gave a lecture few months ago for the Dystonia Society in London about disability, distress and despair when living with dystonia. The patients afterwards told me how important is it to feel understood and recognized in their fight against this condition..

 -Disability can be overwhelming, as dystonia is brought up by action and interferes with daily life activities. Some patients are blind as they can’t open their eyes, some can’t write, others can’t speak, or can’t walk without fighting with their painful twisty neck.

-Distress at the time of the diagnosis can be profound. The diagnosis is always delayed; the presenting symptoms are often unusual and intermittent at the beginning, making it difficult to be recognized by non-specialists.

-Fall into despair is precipitated by the patient’s lack of knowledge about his condition.  They do not understand what’s happened to them and what to expect from the treatment. They need help to begin to accept that their life may be scheduled into 3 months interval of repeated Botox injection. The chronicity of the symptoms and the associated pain can also lead to a vicious circle of depression, chronic pain and worsening of dystonia. The depression needs to be treated to break this vicious circle.

I feel strongly that we can fight each of these dramatic consequences and improve the life of the dystonic patients.

-Education of the patients about dystonia ( Dystonia society,  Patient’s support groups, this blog) allows them to become the actor of their treatment and to work with neurologists  for a positive outcome.

-The therapeutic strategies (drugs, botox injection, physiotherapy, brain surgery) are available to alleviate the disability.

 -A multi disciplinary approach working with physiotherapists specialized in pain and dystonia, and a holistic approach of the patient  focusing on both motor and non-motor symptoms, can help patients to live with their dystonia.

The specialists in dystonia and its treatment are joining their efforts at every level: national ( British Neurotoxin network), European ( European Dystonia Federation) and world wide ( Dystonia Coalition). Research on dystonia is very active all over the world.

Both patients and doctors have to be convinced that there is light at the end of the tunnel and keep hoping for a better future.

Dr MH Marion is a neurologist in London, specialist in Botox treatment for dystonia: blepharospasm, cervical dystonia, jaw spasms, writer’s cramp and spasmodic dysphonia.

Meeting the experts in Guildford, UK: What about blepharospasm?

Last weekend, 15 movement disorders clinicians from Europe, Russia, USA, and Canada gathered in Guildford, to share views on Botulinum toxin treatment for focal dystonia., This meeting was sponsored by Merz Pharma.

Dr Elin Forsaa,Dr Svetlana Khatkova, Dr Torsten Grehl, Dr Flavia Coroian, Dr JM Meyer, Dr MH Marion, Dr Dirk Dressler, Dr Sylvain Chouinard,Dr Robert Chen, Dr Sophie Sangla, Dr Said Bensakel, Dr Shyalmal Mehta, Dr Olivier Simon, Dr Richard Evans, Ms Muna Bitar

I was asked to present the key therapeutic challenges in blepharospasm and prof Dressler from Hanover was presenting the therapeutic challenges in cervical dystonia.

What came up in the discussion watching many videocases,  was the clinical diversity of the blepharospasms, which raise a lot of questions.

1-Are the young onset blepharospasm , affecting women before the age of 50, different in their progression and response to treatment?

2-How some patients with primary blepharospasm can be still focal, affecting only the eyes after 10 years of duration and other patients (31% in Defazio study) see their dystonia spread to the lower part of the face, in the first 5 years after the onset?

3-How some patients are mainly “” blinkers” and others “shutters” sic a patient?

In another words is there a group of patients who started with increased blinking, following dry eyes and photophobia, and some who never complains of over blinking, who have no sensory symptoms, but can’t reopened their eyes.?

4-How the dystonic spasm around the eyes can be alleviated initially by speaking or singing, then becoming triggered and worsened by speech when the dystonic spasm has spread to all the face (Meige Syndrome) in a same patient over the years.

5-Are both blepharospasm and migraine which share the same sensitivity to bright light are coincidental when occurring in the same patient or do they share some common pathophysiology of central trigeminal desentizisation?

6- is the Bell’s phenomenon seen in some patients, following an improvement of their spasms after Botulinum toxin injection, is a marker of a persistent underlying dystonic activity as a reflex from the brainstem.

7- Is stimulating, the Muller muscle, which is a smooth muscle which plays a role in lifting up the eyelid, with Aproclonidine eye drop can help patients with so-called apraxia of eyelid opening?

Previous studies , in particular the work of G. Defazio, from Italy, have given some answers. Patients with blepharospasm have twice the risk of spreading than cervical dystonia and most spread events occurs after the age of 50..

. Patients with Blepharospasm blinked more at rest than during conversation, by contrast with heatlthy volunteers who blinked more during conversation. Two cases of speech induced Blepharospasm has been described in patients with cranial dystonia.

 I found this session very inspiring, pushing me to look further in the clinical characteristics of blepharospasms.  We always quote the clinical complexity of writer’s cramp, where so many different muscles can be involved. I am convince that despite a only muscle involved, the orbiculatrs oculi, Blepharospasm is not a model of simplicity…

We then all went to a pub in Shere for diner, admiring on the way the beauty of the Surrey hills.  May be in the next few years we will meet again to share the answers to our questions…

 

The William Bray pub in Shere (Surrey)

 

Dr Marie-Helene Marion (London) and Dr Sophie Sangla, a leading neurologist in botulinum toxin treatment in Paris: a friendship of 30 years….

 

Strangulated and whispery voice due to laryngeal dystonia. What does it mean for the patient?

               Our voice, like our handwriting, is an individual signature.

Just answering Hello on the phone is enough for our relatives or closed friends to identify who is speaking.

The daughter or the son of a friend, who speaks just like their parents, sometimes mistakes us. Study on monozygotic twins showed that the voice pitch can be a familial characteristic, which can be useful in the identification of twins.

 Also our voices may express our emotions, such as anger, stress, and happiness like our facial muscles do, mainly through the pitch of our voice. There are studies in the world of forensic science on vocal stress analysis. But none of them have found so far a reliable way of detecting lie based on recording laryngeal micro-tremor.

 Also our accent told people where we come from geographically and socially.

 So, presenting with a voice disorder can be emotionally difficult as not only the oral communication become laborious, but also the way of expressing our emotions is impaired, and part of our identity is lost.

 –Spasmodic dysphonia, is a dystonic spasm of the vocal cords when speaking and there are 2 main types of spasmodic dysphonia.

1-In the adductor type, the most common form the voice is strained, strangled, frequently interrupted by voiceless pauses, because the vocal cords have difficulties to spread apart when speaking, In that case, the dystonic muscles are the thyro-arythenoids muscles or adductor muscles, which are responsible of getting the vocal cords closed to each other’s.

2-In the abductor type, the less common form, the voice is breathy, with prolonged voiceless consonants because of difficulties with voice onset following voiceless sounds such as /h/, /s/, /f/, /p/, /t/, and /k/. The muscles, which are responsible of spreading apart the vocal cords, are the Crico-pharyngeal muscles or abductor muscles.

 

-Emotional factors can influence spasmodic dysphonia

Stress can precede the onset, or worsen the symptoms, but surprisingly patients report that screaming, crying, laughing, and singing can be normal. This variability of the symptoms can be disconcerting for the patient and raise suspicion of psychogenic pathology (due to psychological problems) in the entourage of the patients and even the doctors. The capricious nature of the dystonic symptoms has to be explained for a better acceptation of the condition .

Botulinum toxin injections into the vocal cords are the most efficient treatment of this condition, which curiously not only restore the voice fluidity in case of adduction dysphonia but also the voice personality with pitch and accent. Repeated injections every 3 to 6 months are required to maintain a good voice.

-References:

Voice similarity in identical twins. Van Gysel WD, Vercammen J, Debruyne F. Acta Otorhinolaryngol Belg. 2001;55(1):49-55.

 Voice Onset Time Production in Older and Younger Female Monozygotic Twins
Jack Ryalls, Heather Shaw, Marni Simon. 
Folia Phoniatr Logop 2004;56:165-169.

 Voice stress evaluators and lie detection. Hollien H, Geison L, Hicks JW Jr. J Forensic Sci. 1987 Mar;32(2):405-18.

 Voice – How humans communicate? Manjul Tiwari and Maneesha Tiwari , J Nat Sci Biol Med June 2012

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361774/

Free article

 Patient perceptions of factors leading to spasmodic dysphonia: a combined clinical experience of 350 patients. Childs L, Rickert S, Murry T, Blitzer A, Sulica L. Laryngoscope. 2011 Oct;121(10):2195-8.

Meditation and dystonia: an insight from a lady with blepharospasm

Meditation refers to a family of self -regulation practices that focus on training attention and awareness in order to bring mental processes under greater voluntary control and thereby foster general well-being and development and/or specific capacities such as calm, clarity and concentration.…( Walsh and Shapiro, 2006, quoted in Wikipedia on meditation http://en.wikipedia.org/wiki/Meditation

Several recent studies have shown the influence of mindfulness meditation on brain morphology. In particular, Britta et al (Soc Cogn Affect Neurosci. 2010; 5: 11–17) has shown the influence of an 8-week mindfulness-based stress reduction intervention on the changes in amygdaloid gray matter density, which is a part of the brain involved in response to stress.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840837/?tool=pubmed

Patients with dystonia have all experienced the worsening of their dystonic symptoms with stress and Henry Meige at the beginning of the 20th century adviced his dystonic patients to have a regular, calm life to avoid fluctuations in the severity of the cervical dystonia.

The dystonia itself is source of great frustration and stress for the patients, who are limited in their daily tasks (walking, reading, eating, speaking, writing) by the dystonics spasms. In addition, professional and family life can bring a lot of joy , but can be also emotionally challenging.

Can meditation help patients with dystonia? There is no scientific study on that topic but I want to share with you the testimony of Anne, a lady with blepharospasm who has been involved in teaching meditation to groups and practices mediation regularly for her well being.

 

Testimony of Anne 

“I have had Blephoraspasm for 7 years, for me the most difficult things to come to terms with were

Ø Loss of independence

Ø Loss of career

Ø Not being able to drive when I wanted

Ø Learning to use Public Transport alone

Ø Fear of travelling alone

Ø Decrease in social activities

I went through a period of becoming almost house bound only going out with my son and friends.

Having worked as a senior Nurse in Mental Health for over 40 years I was very aware of the symptoms of stress and anxiety but had not fully appreciated just how much these symptoms were affecting my Dystonia, I had spent years as a CPN teaching patients and carers Anxiety Management but had not recognised the tell-tale signs in myself

First I had to accept that I had this disabling disorder and that I had to learn to manage the symptoms, I soon became more and more aware that any sort of negative stress or anxiety made the symptoms a great deal worse. It could be something really trivial and my eyes would start closing.

To assist me with relaxation I tried many different complementary therapies some helped some didn’t, we are all individuals, what will help one person won’t another. I also used anxiety management techniques to help, particularly when I went out i.e. shopping.

I also tried to develop new activities/hobbies that I could do rather than dwell on those that I had lost [not easy]

I had been interested in Meditation for many years and although I had practised this, it had not been in a very disciplined way, now I aim to sit for 30 minutes once or twice daily.

There are many different types of meditation and many definitions.

Meditation for me is about stilling the mind and looking within, facilitating a sense of peace and calmness

                                  Simple meditation exercise.

 The following is a simple method that I use with the aim of reducing stress, identifying tension in various parts of the body and assisting me in controlling negative thoughts and generally aiding relaxation

 Preparation for meditation

Ø Wear comfortable clothing

Ø Use a space for this purpose, a spare room or a corner of a bedroom whatever works for you importantly the space needs to be conducive to sitting quietly with an even temperature            

Ø Attempt to sit at the same time each day, this will help to establish a routine that will be easier to adhere to.

5 to 10minutes is fine to begin with. Don’t beat yourself up if you cannot achieve this.

 Sit comfortably on a chair with your back supported, feet flat on the floor [use a cushion for your feet if they don’t reach the floor] hands on your lap.

Close your eyes if this is comfortable.

Focus on your breath both the inhalation and exhalation [it is important to breathe normally not too deeply] Some people think of the word Relax as they exhale.

You will find that to begin with there are many distracting thoughts going round and round in your mind, this is normal, don’t worry about them let them come and go, just gently bring your attention back to your breath, this may be difficult to begin with but with practise it becomes easier.

It is impossible to think about 2 things simultaneously, as you focus on the breath the distracting thought will disappear at least for that moment.

You may feel fidgety at first, your body and mind need time to adjust to not worrying and rushing to do all the normal daily tasks, practise will help.

As you become more expert in the exercise you will observe which muscles are tenser than others. Gradually you will be able to sit for a longer period leaving you feeling more relaxed.  If it is preferable, quiet gentle background music could be played. Most types of meditations start with this type of exercise how long you sit and how deeply you go within yourself is a matter of personal choice

There are many articles and books re.Meditation for further research”

Anne

It will be interesting to hear the voices of dystonic patients from India for instance, where meditation is part of a long cultural tradition to know if they find it helpful.

Of course, I am not suggesting that meditation is a treatment of dystonia, or that meditation is good for everybody, but it may be a coping strategy for some dystonic patients when the stress in their life has a negative impact on the severity of their muscle spasms.

Swallowing difficulties after Botox injections.What to do and how to avoid them.

Swallowing difficulties can be a side effects of Botox injections, when treating neck dystonia, tongue dystonia, jaw dystonia and voice dystonia. It can occur in the most expert pair of hands as the response to Botulinum toxin varies among patients…

What is important to know? 

Some patients experience swallowing difficulties after Botox injections, due to the spread of the Botulinum toxin to adjacent muscles. Dysphagia (swallowing difficulty, choking on food and/or fluid) is the most serious local side effect, following Botox injections. It can occur in the most expert pair of hands as the response to Botulinum toxin varies among patients. A given dose of Botulinum toxin will be not enough for some patients, but for others it will too much, responsible for spreading to muscles next to the injection site.

Side effects occur most often 10 days after the injection, but may occur earlier, 2 or 3 days after injection. All the side effects are transient, lasting on average 4 to 6 weeks after the injection.

 You can be reassured that all the side effects disappear completely with time.

How it happens?

 

Green arrows represent the Sterno-cleido-mastoid muscle (SCM)

Red arrows represent the strap muscles

 Blue dot represents the Hyoid bone

 

1- Dysphagia following neck muscle injection for cervical dystonia

            a- Dysphagia can follow injections into the front neck muscles, the sterno-cleido-mastoid (SCM) muscles. When these big muscles in the front of the neck are injected, some of the Botox can leak into the surrounding muscles, called the strap muscles.  These strap muscles act on the hyoid bone, which is attached to the bottom of the tongue.  Normally the strap muscles keep the hyoid still and allow the tongue to push the food back into the throat to trigger the swallow.  If the muscles are weak, it does not happen properly and patients can get a feeling of choking, worse with solid food. These swallowing difficulties after SCM injections are more frequent if both sides (right and left SCM ) are injected, if large doses are injected, if the neck is very slim.

          b- The injections of the Longus colli muscles for severe antecollis (dystonic flexion of the neck). These muscles are found deep in the neck and are very close to the muscles of the gullet, responsible for pushing the food down towards the stomach.  If the injection is put in too high up, the ability to push the food down can be reduced; this is usually a problem with swallowing solids.  We usually avoid this happening by testing that we are below the swallow muscles during the injection by performing the injection under EMG (recording of the muscle activity), to check when the patient is drinking, just before the injection, that the needle is out of the pharyngeal constrictors.

2- Dysphagia following tongue muscle injection for tongue dystonia or following mouth floor muscles (supra-hyoid muscles) injection for opening jaw spasms is frequent. The reason some people struggle with swallowing after this injection is basically the same as after SCM injections and the weakening of the strap muscles. The mouth floor muscles and the bottom of the tongue muscles are attached on the hyoid bone. The power of the back of the tongue is reduced and the ability to push the food backwards, towards the top of the gullet,  and trigger the swallow reflex is impaired.

3-Dysphagia , following laryngeal (voice box) injections, is mainly when drinking  fluid and are usually mild. Apart from making a sound for speaking, the main function of the vocal cords is actually to protect the lungs from things falling into them.  When Botox is injected into the vocal cords from the front, the closing action is weakened.  In most patients this does not cause a problem but some people find that they have an increased tendency to cough when drinking fluids.  Very rarely it can also affect eating solids.

Drawing from website on swallowing difficulties after stroke, which explains how aspiration pneumonia can happen.

http://www.strokerehabunit.ie/en/AboutStroke/FeedingandSwallowing/

What to do if you have a problem with swallowing?

As with all Botox side effects, the problem will get better with time.  The average length of side effects for most people is a couple of weeks but some will have less and some more.  There are many ways to help yourself during this time.

1-Take small mouthfuls and chew carefully before trying to swallow.

2- If food feels like it is slow to go down, keep a glass of water nearby to help wash down the food.

3-Consider eating softer consistency food (thick soup, yoghurt, mashed vegetables) for a short while, avoid crusts, large pieces of meat and anything very hard. Eating in front of somebody and not alone is recommended.

4-If swallowing fluid is making you cough, make sure you are sitting up when drinking.  Sip slowly through a straw as this allows you to keep your chin tucked down and this makes it more difficult for the liquid to spill into the voice box. Sucking ice/ice lollies can get you quite a lot of fluid but as it is delivered in very small amounts does not cause any coughing.

5- If food/drink enters the wind pipe and goes into the lungs frequently, a serious infection may result, called aspiration pneumoniaAlso you may not be able to eat or drink enough, so please make sure you get in touch with your GP or the doctor who injected you,  as very occasionally patients will need to be admitted to hospital to be fed through a tube for a few days.. This is very rare and in our experience has happened to less that 1 patient per year

 

What to do to avoid the side effects at the next session of injections?

 

1-Swallowing difficulties, which can exist before the injections, have to be reported to your doctor, before the injection.

–       It has been shown that patients with already swallowing difficulties before injection, due to their dystonia, are more at risk of severe dysphagia with Botulinum toxin treatment.

–       Swallowing difficulties are frequent before any treatment in cervical dystonia, (from 36% clinically to 72% when investigated), in spasmodic dysphonia and in oro-mandibular dystonia.

–       The Speech and Language Therapist may x-ray the mouth and throat area to see what the precise swallowing difficulties are. This x-ray is called a videofluoroscopy. This x-ray will help to determine what types of food and drink are safe to swallow and what dysphagia therapy might be appropriate.

–       Studies showed that Cervical dystonia patient with dysphagia can have difficulty to drink only 1-10ml in one attempt, in contrast with non-dyphagic patients with cervical dystonia who can drink 20 ml in one attempt.

 2 -The injections have to be customised:

a.     If already dysphagia, the doses into the front muscles should be limited.

b.     At a session of injection, following severe dysphagia after the initial injections, the injection sites and dosages should be adjusted to avoid the reoccurrence of any side effect.

c.     It may also require delaying the injection more than usual, 14 weeks instead of 12 weeks for instance, to avoid any cumulative effect.

3-The dysphagia has to be documented:

It’s very important that the patient documents precisely the nature of the side effect, (for instance, choking on fluid or on food, need to drink to wash down the food after eating), in particular if the patient is not seeing his doctor in between 2 sessions. A dairy of the events will be very helpful for the doctor when adjusting the next dose.

Conclusion

 Dysphagia is frequent before injections in patients with dystonia, but can also be a local side effect of the Botox injections. Being cautious when drinking and eating, and talking to your doctor are the best advices. It can be a scary time, but it will all go back to normal after 3 to 6 weeks time .

Also it can be avoided the next time, so it should not discourage you for having further injection.

I wanted to thank my collaborator, Ms Lucy Hicklin, ENT surgeon, a specialist of Botox injection into the vocal cords for spasmodic dysphonia and into the Longus colli  for antecoliis for her contribution to this post.

 References:

Oropharyngeal swallowing in craniocervical dystonia. Ertekin C, Aydogdu I, and al, J Neurol Neurosurg Psychiatry. 2002;73:406-411

The swallowing side effects of botulinum toxin type A injection in spasmodic dysphonia. Holzer SE, Ludlow CL. Laryngoscope.1996; 106: 86-92

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Droopy eyelid, double vision..after Botox injection, what to do?

Double vision, droopy eyelid, tearful eye can occur in the most expert pair of hands as the response to Botulinum toxin varies among patients…Dr Marie-Helene Marion tells you  the facts behind these side effects and what to do when they occur . Dr Marie-helene Marion will also share her tips  to avoid them…

 Botulinum toxin injections can cause side effects due to the spread of the Botulinum toxin to adjacent muscles.

They can occur in the most expert pair of hands as the response to Botulinum toxin varies among patients. A given dose of Botulinum toxin will be not enough for some patients, but for others it will too much, responsible for side effects.

Side effects occur most often 10 days after the injection, but may occur earlier, 2 or 3 days after injection. All the side effects are transient, lasting on average 4 to 6 weeks after the injection. You can be reassured that all the side effects disappear completely with time.

1-Droopy eyelid

   -Droopy eyelid (ptosis) is due to a spread of the neurotoxin to the middle part of the superior eyelid, into the Levator palpebrae muscle. This muscle is responsible for holding up the eyelid. The ptosis, can be mild, covering the top of the pupil only, or more pronounced covering half the pupil; very rarely the eye is completely closed. It happens after injection of Botulinum toxin around the eyes (eg for Blepharospasm or Hemifacial spasm).

– What to do?

 Iopidine 0.5% (Apraclonidineeye drop can be used to decrease the ptosis, inducing a contraction of a small eyelid muscle (the Muller muscle), which lift up the eyelid 1-3 mm. Two drops of Iopidine , 3 to 4 times a day for the 2 to 3 weeks is the usual dose; the effect can be seen 30 minutes after administration of the Iopidine drops and lasts about 2 to 3 hours. It’s used for the treatment of Glaucoma (high intra ocular pressure). It can be responsible for redness of the conjunctiva after 1 week, and for dry eye and dry mouth. It should not be used as a long term treatment, more than 1 month. It’s contra-indicated in case of kidney failure, recent heart attack, heart failure, angina, stroke and high blood pressure

The ptosis is different from a droopy eyebrow, which can occur after injection into the forehead for cosmetic injection or facial sweating, and which closes the eye by making the eyelid looking “ heavy”, increasing the skinfold of the upper eyelid. Iopidine eye drop is not useful in this case.

 2 Double vision and blurred vision

-Double vision (called Diplopia) is due to the spread of the Botulinum toxin into the muscles which move the eyeball; if one of these oculo-motor muscles become weak on one side, the patient will see 2 images instead of one, when looking with the 2 eyes; the double vision will disappear when looking with only one eye; the movement of the 2 eyes are no longer synchronous. B lurred vision is often from the same mechanism but less marked, so the image seen by the 2 eyes is blurred.

– 2 types of double vision:

-If  double vision comes from spread of the Botulinum toxin injected into the upper lid, the 2 images will be one above the other, (vertical diplopia) and the weakened muscle will be the Superior Rectus in the middle part of the upper eyelid.

-If double vision comes from spread of the Botulinum toxin injected into the lower lid, the 2 images will be one above the other (either vertical or oblique diplopia). The weakened muscle will be the Inferior Oblique, in the medial part of the lower lid.

What to do?

Double vision can very disturbing, a source of headache and falls as the edge of the pavement, for instance, will be difficult to appreciate. Therefore the patient with double vision has to be careful when walking, and can either cover one eye, or ask his optician for a prism to attach on one side of his glasses to correct the oculo-motor imbalance. It will also disappear spontaneously in 4 to 6 weeks.

3- Tearful eyes.

 Tearful eyes are due to dysfunction of the evacuation of the normal tear production by the tear duct, situated on the edge of the lower lid in the corner near the nose. If the lower eyelid is too saggy, the tear duct is no longer facing the inside of the eye and cannot drain the  tears. It can be source of blurred vision.

   4- Exposure keratitis

 – Exposure keratitis is due to difficulty to close completely the eye (lagophtalmos). If the pretarsal injection of Botulinum toxin into the upper lid is too strong for the patient, the eye can be wide open with decreased blinking and difficulty to close completely the eye at night. The eye becomes dry, sore, red, irritated by any dust or other foreign bodies, which are usually cleared from the surface of the eye (cornea) by blinking.

–  What to do?

 Artificial tears during the day, ointment at night, protection of the eye from the wind by wearing large glasses, and closing the eye at night with an eye pad are the protective measures to avoid keratitis.

5- What to do to avoid the side effects at the next session of injections?

–  Customize the injections:

a.    At the next session of injection, the injection sites and dosages should be adjusted to avoid the reoccurrence of any side effect.

b.    In case of ptosis, the injection can be distanced from the middle part of the upper lid.

c.    In case of diplopia or tearful eye, the injection of the medial (near the nose) lower lid site will be avoided.

d.    It may also require delaying the injection more than usual, 14 weeks instead of 12 weeks for instance, instead of decreasing the dose too much. A low dose could have no side effect but also have no effect on the dystonic spasm.

-Document the side effect:

Therefore, it’s very important that the patient documents precisely the nature of the side effect, in particular if the patient is not seeing his doctor in between 2 sessions.  Pictures of the face for the droopy eyelid, description of the double vision at the time of the event, will be very helpful for the doctor when adjusting the next dose.

 Again, every patient responds differently to the injections, and it may take sometimes 2 or 3 sessions, to customize the injections in order to achieve an optimal benefit without side effect.

Don’t lose hope! The side effects never last and the injections will eventually be tailored to your own condition, fitting you like a dress from a haute couture salon!

Living with dystonia

Dr Marie-Helene Marion (neurologist), Mrs Linda Baker (secretary of the Kent group) and Ms Angie Brown (Dystonia Society representative)

Dr M-H Marion, neurologist, specialised in the treatment of dystonia, explains how dystonia is a source of disability, distress, anxiety and despair and what can be done to help.

Mr Dave Ward, Dr Marie-Helene Marion and Mrs Linda Baker (Kent dystonia society group)

 

 

Living with dystonia

Last Saturday I attended the Kent Dystonia society group meeting in Maidstone.  As the attendees had different types of focal dystonia, I chose to speak about living with dystonia in general, and how dystonia is a source of disability, distress, anxiety and despair and what can be done to help.

1-Dystonia is source of disability, related to the fact that the dystonic spasms are brought up by action and interfere with daily life activities. As soon as the patient with blepharospasm tries to watch TV or drives, his eyes close; the patient with jaw spasms has major difficulties chewing; the patients with neck dystonia, difficulties when walking, and looking in front of him; the patients with writer’s cramp when writing and the spasmodic dysphonia when speaking.

2-Dystonia is source of distress as the diagnosis of dystonia is often delayed.

The awareness of doctors is low for dystonia as it is a rare condition, but it is not the only reason to explain the difficulty for the diagnosis. The presentation is often disconcerting, with the presence of a “geste antagoniste” (for example, touching with one finger the cheek can control severe neck spasms) or a sensory trick (a gum kept in the mouth alleviates jaw spasms), the occurrence on specific tasks, the diversity of the symptoms depending of the site of the dystonia, and the existence of a stressful event prior to the onset of the symptoms. The natural history also is often disconcerting, by its capricious fluctuations with remission and worsening without clear reason.

3- Dystonia is source of anxiety as the patient try to understand what’s going to happen in the future. The patient has difficulties to understand the natural history of the diseasethe spontaneous remissionsthe dystonic stormsthe risk of spread and to know what are the right expectations from the treatment.Doesthe treatment influence the course of the disease? What I should do in my daily life to get better?

4- Dystonia is source of despair as getting the right treatment is often an obstacle course.  In particular it can be challenging to find a specialist in dystonia and a Botulinum toxin service, which perform EMG guided injections into deep muscles, like the jaw muscles, the vocal cords or the forearm muscles. Do I need to see a neurologist, an ENT specialist, an ophthalmologist for the Botox injections??

The diversity of the response to treatment is also frustrating and the Botox injections have a trial and error process before finding the right dose for each individual. The patient needs to understand the therapeutic strategy, such as the role of the drugs, of the Botox injections, of the surgery and of the self-healing process (relaxation, physical exercises).

 Can we help dystonic patients to face all these challenges? 

One of the main answer for me is that the patient needs to become actor of his treatment.

Clear information has to be available for the patient: Every patient with focal dystonia in a way is unique, in the type of spasms and in the response to treatment. The patient needs to be well informed.  A better knowledge of the expected benefit and of the possible side effects from the patient will help the doctor to adjust the dosages of the anticholinergic drugs and of the Botulinum toxin.

The level of anxiety will decrease, as the patient will be able to anticipate and influence the progression of the dystonia by physical exercises, and by adjusting daily life activities to his ability.

 

What is available now in UK?

 1-The Dystonia Society UK www.dystonia.org.uk  has used the modern technology to reach a large population. Google advertising, new website, forum discussion, page on Facebook (Dystonia society UK), Twitter @dystonia society.. very soon there will be no more excuses to not know the word dystonia!!

2-Myself, as a neurologist specialised in dystonia, have developed this blog, www.infodystonia.com, to share my experience in treating dystonic patients over the last 25 years. For the healthcare profession, I have founded the British Neurotoxin Network (BNN) www.neurotoxinnetwork.org to gather all the clinicians involved in the Botox treatment of dystonia in UK for sharing information, techniques and new developments. The British Neurotoxin Network  (BNN) website, also hosts UK service maps www.neurotoxinnetwork.org/botox-treatment-centres.php to localise easily by the patients or the doctors where is the most appropriate centre for treatment.

I am also organising workshops and master class to share knowledge and skills with my colleagues who want to be involved in the care of dystonia.

3-The patients also are working hard to go forward in the best care for dystonia in organizing local support groups, like the Kent group under the umbrella of the Dystonia Society. The list of all these groups in UK are available on the Dystonia society website.

Thank you to Linda Baker and Dave Ward to organize this very well attended and stimulating meeting at Maidstone.

When meeting dystonic patients, it come to my mind  that the British Motto: “Be calm and carry on” is what most of the patients have courageously chosen when living with dystonia.

Treatment of spasmodic torticollis by a psycho-motor retraining: A method developed 100 years ago by Henry Meige

I was invited last week to lecture at the University of Liege ( Belgium ) about the understanding of dystonia by Henry Meige, a French neurologist . I went back to his original publications and found that he advocated in 1907 a psycho-motor retraining (“discipline psycho-motrice”) for the treatment of spasmodic torticollis…

The Magic Mirror, Magritte, 1929

 

Treatment of spasmodic torticollis by a psycho-motor retraining:  A method developed 100 years ago by Henry Meige

I was invited last week by Professor Gustave Moonen to lecture at the University of Liege (Belgium) about the understanding of dystonia by Henry Meige, a French neurologist.

I went back to his original publications and found that he advocated in 1907 a psycho-motor retraining (“discipline psycho-motrice”) for the treatment of spasmodic torticollis. It was at the time when there was no routine use of anticholinergics and Botox injection for cervical dystonia was not even a blip on the horizon. I could not resist to give you the translation of this therapeutic approach that I found quite inspiring…

1-The patient becomes actor of his treatment: “I don’t say the patient is cured, but the patient has cured himself”. This treatment is based on regular immobilizations and movements in front of a mirror; the patient has to be supported by his family and his doctor, as these daily exercises require a lot of effort and determination from the patient. “The goal of the treatment is to correct the abnormal postures, the put at rest the hyperactive muscles and to learn the control of the motor acts.”

2-The patient needs to have a regular life, going to bed at regular times. The patient is told that the course of the disease will be capricious, that he will have to perseverate and that the exercises will be eventually beneficial.

3-The patient had to exercise in front of a mirror 3 times a day; the patient is sitting, back non supported and hands flat on a table. The mirror is divided by 1 vertical line going through the middle of the face and 2 horizontal lines, through the alignment of the eyes and through the base of the neck above the shoulders, in order for the patient to be aware of the movement of his head. The patient is asked to focus on the point of crossing of the first 2 lines.

 

4-Two types of exercises:

 1-Immobilization: for 5 seconds 10 times with 15 seconds rest in between each immobilizations, increasing of 5 seconds every day the immobilization time.

2- Movement: slow and smooth movement, without saccade of the head in rotation, lateral flexion, flexion forward and extension; also movements of the shoulders, arms and trunk and exercises of relaxation of the muscles.

Then also in front of the mirror, exercises of writing, reading, breathing and speaking and daily tasks exercises.

5- Cervical dystonia has a good prognosis:

 Henry Meige was convinced that over the years the cervical dystonia always settle down, with the dystonic spasms becoming less severe and less frequent, until they disappear; the patient is left with only neck stiffness. He did not give any figure of proportion of patients who improved, but they were patients followed for more than 5 years.

6-Since the 80’s, physiotherapy for cervical dystonia has been developed by Jean-Pierre Bleton in France, but still remains a French specialty despite individual effort to develop it abroad.

Botox injections had become the first line treatment for cervical dystonia,, leaving the patient in the passive expectation of his injections every 3 months.

The mirror is still a very important tool in the therapeutic approach of neck dystonia as the patient is very inaccurate when assessing the position of his head, thinking that his head is straight when in reality the head posture has a 20 degrees tilt or rotation.

May be it’s the time for patients with cervical dystonia to become actor of their treatment and to look for a therapeutic strategy including Botox injections and “psycho-motor retraining “  without forgetting the role of the mirror, like Magritte, a Belgium painter…

Meige H : Les peripeties d’ un torticolis mental. Histoire clinique et therapeutique.. Nouvelle iconographie de la Salpetriere. 1907, 6:461-480

 

Don’t push your dystonia!

 Push up and Press up have became part of the life of young adults…

Dr MH Marion explains why weight lifting is not advisable in cervical dystonia patients…

 

Don’t push your dystonia!

 

1-Push up and Press up have became part of the life of young adults. Going to the gym is a healthy and an advisable way of keeping fit in a urban society, which expect us to be sitting all day long in front of a computer and to be in full shape for climbing mountains.

However, it’s more recent that weight lifting to reinforce selectively muscle strength and to modify body shape is part of the routine of ordinary people, who are neither athletes, nor body builders.  Weight lifting can quickly be part of the life style, with addictive personal challenges to lift heavier and heavier weights.

2-Cervical dystonia is a neurological condition, affecting young adults, resulting in an unbalanced activity of the neck muscles. Some muscles are hyperactive, and inhibit their counterpart on the other sides (reciprocal inhibition); for instance a patient with an involuntary rotation of the head to the right (right spasmodic torticollis) will have a large , hyperactive left Sterno-Cleido Mastoid muscle and a thin right Sterno-Cleido-Mastoid muscle. For a better understanding, read the blog “What makes my head turn?”.

The treatment of cervical dystonia is based on Botulinum injections, which correct this disequilibrium by relaxing the hyperactive muscles and on physiotherapy by reinforcing the inhibited muscles.

3- Is weight lifting contra-productive in patients with cervical dystonia?

I had the opportunity to treat few patients with cervical dystonia who were adept of weight lifting practice. These patients require larger doses of Botulinum toxin, even if the small number of cases doesn’t allow any scientific conclusion. This could explain by the fact that the exercised muscles became larger and stronger.

But the question is which exercises have an impact on the neck muscles and are some exercise worst than others, by targeting neck muscles involved in the dystonia?

I had the opportunity to discuss resistance training exercises with a specialized exercise instructor , Mr Rajah James who gave me a reference book “ Strength training anatomy” from Frederic Delavier. Every resistance training exercise is analysed in terms of functional anatomy with detailed illustrations of which muscles are targeted for each exercise. It’s an amazing book full of details and drawing, that I will strongly advise to anybody interested in exercising against resistance.

4-. Exercises to avoid at any cost:

The neck muscles are involved in the erect posture of the neck, in another words keeping the neck straight; any weight lifting will tense the neck muscles to stabilize the neck during the effort.

More specifically, shoulders muscles such as Trapezius and Levator scapulae elevate the shoulder but also are involved in the rotation, lateral flexion and extension of the neck.

Lateral Arm Raises and Shoulder Shrugs (Machine and Dumbbells shrugs), have to be avoided at any cost; they both reinforce the Trapezius in his upper and anterior part and in addition the shrugs reinforce the Levator Scapulae.

Back Press, Front Press, and Dumbbell Press are reinforcing the Trapezius muscles in its upper part.

 Therefore I advise strongly against any weight lifting exercise in case of cervical dystonia;it can worsen the dystonia by reinforcing the dystonic muscles and increase the muscle unbalamnce and also it can partially compromise the effect of the Botox injections.

5- Physiotherapy for cervical dystonia

The retraining of the cervical muscles, which are becoming less active because of the dystonia, and the stretching of the overactive muscles are a very important part of the treatment. Jean-Pierre Bleton in Paris has written extensively about his original approach of physiotherapy with dystonic patients.

Frederic Delavier: Strength Training Anatomy

http://ebooksfreedownload.org/2011/04/strength-training-

Jean Pierre Bleton : Role of the physiotherapist in the treatment of dystonia

http://books.google.co.uk/books?id=haKD-PjEJ3MC&pg=PA223&lpg=PA223&dq=jean+pierre+bleton&source=bl&ots=yHGkDzRaN3&sig=VhFnlNAlPGqNlnuo7ieIMKR8yjY&hl=en&sa=X&ei=X9FXT42IDsSg8QOc2Mj-Dg&sqi=2&ved=0CFoQ6AEwBg#v=onepage&q=jean%20pierre%20bleton&f=false anatomy.htm

 

Meige syndrome

Henry Meige (1866-1940)

A grimacing face … not an expression of pain or disgust but a neurological condition:

A Meige syndrome

 Forceful dystonic spasms of the face, in particular when trying to speak or to eat have been called Meige syndrome.

 Henry Meige was a French neurologist who published as a junior neurologist, about facial tics with his friend Feindel in 1894 and 2 years later with his maitre Brissaud about neck dystonia, which he is called Torticollis mental (1896). From then, he studied patients with facial movements disorders, not only the tics but what he called “les convulsions de la face”. He also kept a fascination for the spasmodic torticollis that he recognized publically as an organic disease in 1929 after seeing patients suffering from Encephalitis Lethargica and reading the work of Oppenheim (1911) on Dystonia Musculorum Deformans.

In 1910 he described a Bi-blepharospasm (what we call now Blepharospasm) to emphasize that both eyes were affected, with sometimes a positive family history and which could spread to the laryngeal, mouth floor, jaw  and even tongue muscles.

Meige syndrome is now an eponym to describe a blepharospasm associated with a dystonia of the muscles of the lower part of the face and the larynx as described by Meige in 1910. Patients with Meige syndrome are patients over the age of 60, who complains of involuntary eye closure when trying to speak or to chew. The speech or the chewing is affected and the tongue is involuntary pulled out. It usually starts with a blepharospasm, which spreads down in 35 % of the cases to the mouth and the neck. The pattern of activation of the eye closure changes from an isolated blepharospasm which is better when the patient is speaking and worst when the patient is silent to a spasm of eye closure when the mouth is activated.

Meige syndrome has to be treated actively with anticholinergic drugs if tolerated, clonazepam and Botulinum toxin injections into all the dystonic muscles of the face (eyes, jaw, tongue, larynx, neck) ; the facial grimaces can settle and patients with Meige syndrome should keep hope for a better future.

More study is needed to understand the long term prognosis of this condition.

For further reading, I advice you 2 papers from 1976 and 1982 of Professor CD Marsden

Spastic dysphonia,Meige disease and torsion dystonia. CD Marsden, MP Sheehy.1982

http://www.neurology.org/content/32/10/1202.extract

Blepharospasm-oromandibular dystonia syndrome: a form of adult –onset torsion dystonia, CD Marsden, 1976

http://ukpmc.ac.uk/articles/PMC492566/pdf/jnnpsyc00174-0060.pdf