Dystonia

Dystonia in pandemic

Dr. Marie-Hélène Marion

Patients with dystonia have difficulties accessing Botulinum toxin clinics at this time of pandemic.

I have recorded a video presentation to advise dystonic patients with recommendations if the injections are not available.

Dr Marion Dystonia in Pandemic – 30/03/20

No panic ! a lot can be done.

I hope you will find this message helpful

All my best wishes Dr Marie-helene Marion

Other webinars written by colleagues on “what to do in time of Pandemic”

1-Voice Techniques to Manage Symptoms of Spasmodic Dysphonia and Related Voice Conditions

2-On exercises to manage dystonia without Botulinum toxin

by my Italian colleagues, Anna Castagna , Elisa Andrenelli e Marina Ramella

Lid watching, a lost art!

Dr. Marie-Hélène Marion

 

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The diagnosis of blepharospasm is not always easy, in particular in case of pretarsal blepharospasm, also called Apraxia of eyelid opening, mistaken quite often for ocular myasthenia.

1- what is ocular myasthenia?

Myasthenia is an autoimmune disease, responsible of muscle weakness, affecting the all body and when localized to the muscles around the eyes, called ocular myasthenia.

Ocular myasthenia can present with isolated droopy eyelids (medically called ptosis), due to a weakness of the levator muscles of the eyelids, the Levator Palpebrae, but is often associated with double vision, due to weakness of the oculomotor muscles. The weakness is worst at the end of the day, due to the fatigue of the myasthenic muscles.

The diagnosis of ocular myasthenia is based on clinical findings, the presence of antibodies in the serum (30 to 60% cases) and the abnormal response of the muscles on repetitive electrical stimulation. Clinically the doctor can look for the “peek sign” by asking the patient to perform a sustained gentle eyelid closure; the fatigue of the orbicularis oculi will be responsible of a slight opening of the eye, as the patient peeking.! ( J. Glaser).

2- why so many patients with Blepharospasm are misdiagnosed with ocular myasthenia?

-Blepharospasm patients can have a misleading presentation of ptosis, with intermittent droopy eyelids, due to the spasms of the pretarsal portion of the orbicularis oculi muscles (also described as pretarsal BSP) pulling down the eyelid like the string of a roller blind down to the window.

-The words that patients used to describe their symptoms such as “my eyes are tired”, “my eyelids feel heavy”, “I feel more comfortable eyes closed” can indicate wrongly a muscle weakness of the eyelids, and reflect in fact the loss fight of the patients against the dystonic spasms closing their eyes.

– the variability of the symptoms through the day ; in myasthenia the patient is worst at the end of the day; in BSP the patient is worst walking outdoors, driving, watching TV, looking up and with any bright light and dazzy winter light.

– A levator palpebre detachement can occurs on some patients after years of spasms, and pulling on the muscle insertion

3-the art of lid watching

The famous neuro-ophtalmologist, J Glaser talked about “ Lid watching, a lost art!” Joel Glaser in Handbook of neuro-ophthalmology, 1999

-Lid watching is optimal when patients are keeping silent; BSP patients have an increased rate of blinking when being quiet and vice versa a low blinking rate when speaking. It’s the opposite of what observed in normal subjects. That may explain why patients find easier to keep her eyes opened when speaking and choose to sing when driving.

-In the case of pretarsal BSP careful lid watching along the eyelashes, looking for a pulling down spasms of the eyelids is a good indicator of pretarsal spasms.

– In addition, the lid closing spasms may be associated with Bell’s phenomenon with elevation of the eyeball, so it’s important to look not only at the eyelid but also the eyeball

– In case of levator palpebre detachment, the forceful opening of the eyes on command will be limited;

– Also the patients sometimes can’t reopen their eyes, after a spontaneous blink or after a closing spasm. It can be for a fraction of second or for up to few minutes; the patient will flicker his eyelashes, or his eyelids to kick them opened. Sometimes it will be a forceful pulling of the eyelids with his fingers, stretching the skin around the eyes, even sometimes resulting in bruising.

All these signs found on careful lid watching are good indicators of eyelids spasms, and not eyelid droopiness. They also direct the hands of the injector to the maximum spasms to achieve optimal results.

In the movement disorders field, most of the diagnosis are made by watching the movement; it’s particular true for eyelid dystonia and vocal cords dystonia where immobility does not always equal paralysis but also permanent tension due to the dystonia; one day I will ask my ENT colleagues to tell us about the art of vocal cords watching!!!

Marie-Helene Marion

 

Mental imagery and dystonia

Dr. Marie-Hélène MarionLeave a comment

Mental imagery is already used in high level sports competition, and athletes are trained to rehearse their race in their mind, to increase their performance.

Could dystonic patients benefit from mental imagery focusing on their motor
difficulties?

There are scientific facts, and anecdotal reports from dystonic patients to suggest that it may be very helpful on the long term.

Real and mentally stimulated movements rely upon largely overlapping networks. In another words, writing or imagining writing involved common networks in our brain. Studies have shown that the mental imagery of a movement in patients with dystonia follows the same difficulties than the execution of the dystonic movement.

A study by Fioro, 2006 has looked at the mental rotation of body part (hands, feet) in which the subjects imagine moving their body part, from their actual posture into that seen on a picture to recognise which side is belonged in patients with writer’s cramp. Writer’s cramp patients are slower than controls in mentally rotating hands but not feet; it suggests that the mental rotation of body parts reflects the anatomical constraints of real hand movements.

Could the mind reshape the brain?

Neuroplasticity is a normal process by which the brain develops new connections at different levels, following interaction with environment, emotions, behavior. Dystonia is understood to be a condition characterized by an excessive neuroplasticity of the brain leading to abnormal learning of motor program. To be able to influence this brain plasticity It’s important to create an environment for positive learning and recovery.  Mindfulness can be helpful in patients with focal dystonia to minimise stress and increase well being before embarking for retraining.

Retrain your brain, not your muscles!

The visual and mental imagery training will encourage you to imagine successful, normal execution of tasks, which the dystonia prevents you to do..

Remember the time when you could perform the movement normally, and how easy it was to do it and the pleasure, which come with it.

It will be best performed after the Botox treatment has already controlled the dystonic spasm
in the affected body part and together with sensory retraining.

Visualisation exercises are not always easy and you may benefit of the advice of professionals such as hypnotherapist or specialized physiotherapist

Try daily to visualize yourself free of the dystonia, walking eye opened, turning your head freely looking around you, writing a page with our favorite pen or chewing a delicious meal.

Also music and melody can help you to IMAGINE…

You may say I’m a dreamer, But I’m not the only one, I hope someday
you’ll join us, And the world will live as one  (John Lennon)

Speaking up about silent swallowing difficulties in dystonia

Dr. Marie-Hélène MarionLeave a comment

Ms Lucy Hicklin ENT, Mr Paul King chief executive Dystonia society UK, Dr Marie-Helene Marion neurologist and Carol Harris speech therapist. London living with dystonia event, on swallowing and speech problems on the 8th november 2014, London.

Every day we swallow solid food like a piece of bread, water and our own saliva. This vital function occurs most of the time without us being aware of it, as a reflex. But in fact swallowing is a very fine and precise mechanism, which can be disrupted in a number of neurological conditions, the most common and dramatic one occurring after a stroke, but also in dystonia.

A few definitions:

1-    Doctors talks about swallowing difficulties as dysphagia, which is the difficulty moving food from mouth to stomach.

2-    Swallowing difficulties can be severe leading to a misdirection of the food to the nose, or to the larynx (voice box) and the lungs, resulting in infection of the lungs called aspiration pneumonia (as the food has been sucked int the airways).

3-    Swallowing difficulties are silent when there is no manifestation which will make the person aware of the swallowing problem, such as cough, choking, needed to drink to push down the food.

4-    Swallowing difficulties are subclinical when the signs are so mild that they are overlooked such as cutting food into small pieces and taking a sip of fluid with each swallow.

 What are the essentials for good swallowing?

1-    Of course the machinery such as  the tongue, the mouth, the throat (the pharynx) the voice box (the larynx), the oesophagus (gullet) have to be healthy. Issues apart from neurological problems, such as a tumour, could obstruct the swallowing process.

2-    The nervous system has to be able to conduct in an orderly fashion the different sequences of the swallowing, like a conductor with his musicians; only one “ fausse note” can disturb the all process. It’s called neurogenic dysphagia.

What are the sequences of the swallowing?

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1-    The oral phase: the food is collected in the mouth as a soft mass of chewed food, called a bolus.

2-    The pharyngeal phase: the swallowing reflex is triggered by the bolus touching the back of the throat, which give a signal to the brain ( cortex and brainstem) to start the safe guard process: the airway needs to be protected by elevating and closing the larynx and by lifting the soft palate to close the back of the nose. The door to the oesophagus (the crico-pharyngeal sphincter) opens to let in the bolus which has been propelled downwards by the back of the tongue and the pharyngeal muscles.

3-    The oesophageal phase. The bolus then passes though the gullet and into the stomach. This is under the control of the autonomic nervous system

How can swallowing difficulties be assessed?

1-    -During a consultation, a speech therapist will examine the tongue strength, gag reflex, voluntary cough, and speech and perform a trial of swallowing (water, puree) and/or a 3 ounces (90 ml) water test.

2-     FESS (fiberoptic endoscopic evaluation of swallowing).

A fine “spaghetti “( fibre-optic) tube, with a camera at the end, connected to a screen, is introduced by the nose and passed gently down to the throat. With the camera in place the patient is asked to swallow a food of different consistencies.   The food is normally dyed blue or green to make it easy to see against the pink of the gullet.  The speech therapist performing the test can see where it is going, particularly if it is getting stuck or going down into the airway (aspiration) .

3-    Videofluoroscopy is video-radiography of the mouth, throat and oesophagus when the patient swallows a range of foods (biscuit, puree, yoghurt) and liquids that are coated in barium.  The barium shows up on the x-rays (radio-opaque). On the video the radiographer can follow the trajectory of what has been swallowed.

4-  Recording the swallowing process with electrodes in the muscles under the chin and movement sensors on the Adam’s apple can give a good indication of the timing of the different swallowing phases.  It’s called an electrophysiological assessment.

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Posterior aspect of the base of tongue and larynx , after removing the pharynx http://commons.wikimedia.org/wiki/File:Slide10vvv.JPG#mediaviewer/File:Slide10vvv.JPG

What about swallowing difficulties in dystonia, in untreated patients?

Very few studies have addressed this topic. Most have concentrated on the swallowing difficulties in dystonic patients following treatement with  Botulinum toxin injections.

I will present 5 studies of swallowing difficulties in patients with cervical and craniocervical dystonia, before treatment.

1-Riski et al (1990) studied 43 patients with cervical dystonia with videofluoroscopy and found that 51% of the patients had swallowing difficulties; in 16% the difficulties were subclinical (not known by the patient). The patients had mainly a delay in triggering the swallowing reflex and some residue in the vallecula (a groove, behind the base of tongue, usually cleared by the posterior movement of the base of tongue).

2–Comella et al (1992) studied 18 patients with cervical dystonia with videofluoroscopy before and after Botox injections; 11% patients had clinical symptoms of swallowing difficulties and 22% had radiologic signs of peristaltic abnormality.. after Botox (see below), the signs and symptoms of dysphagia in these patients did not change, but an additional 33% developed new dysphagic symptoms and 50% of the patients developed new peristaltic abnormalities by radiologic studies.

3- Munchau et al (2000) studied 12 patients with cervical dystonia undergoing selective peripheral denervation with videofluoroscopy. 90% patients had swallowing abnormalities with 58% subclinical. The patients presented as in the Riski’s study, with delayed initiation of the swallowing reflex and abnormal tongue base posterior movement, in particular in patients with saggital shift of the head.

The subclinical dysphagia was mainly cutting food into small pieces and taking a sip of fluid with each swallow.

4–Ertekin et al (2002) studied 25 patients with cranio-cervical dystonia with electrophysiological assessment. . 36% had clinical dysphagia and 72 % had abnormal swallowing on electrophysiological recording with again delayed swallowing reflex ; also the sphincter ( the crico-pharyngeal muscle) which opens the oesophagus was hyperactive, instead of being relaxed during swallowing to let the food going through.

Ertekin developed the concept of the dysphagia limit. In this simple test patients are asked to swallow volumes of water ranging from 1ml to 20mls.  In patients with clinical swallowing problems only 1-10 mls can be swallowed in one go. In subclinical patients 10-15mls can be managed.  All normal subjects could swallow 20mls in 1 gulp.

5-Cersosimo et al (2005) studied 20 pts with Meige syndrome with videofluoroscopy. 90% patients had abnormal swallowing compared to 40% in a healthy population of same age. They found also residue in the vallecula as in Riski’s study

What about swallowing difficulties in dystonia in Botox dystonic patients?

Botulinum toxin injections, by weakening adjacent muscles, have been responsible of transient dysphagia in dystonic patients.

The different types of dysphagia depending of the sites of the Botox injections have been detailed in a previous post.

Conclusion

Swallowing difficulties are often silent or subclinical in dystonic patients. Patients and doctors need to speak about them as these swallowing difficulties can be worsened by Botulinum toxin treatment administered for the treatment of the dystonia.

Maybe every injector needs to offer a drink to their dystonic patients before treating them! It may be well received…..

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 References: 

Swallowing function in patients with spasmodic torticollis.; Riski JE1, Horner J, Nashold BS Jr; Neurology. 1990 Sep;40(9):1443-5

Dysphagia after botulinum toxin injections for spasmodic torticollis: clinical and radiologic findings.; Comella CL1, Tanner CM, DeFoor-Hill L, Smith C.; Neurology. 1992 Jul;42(7):1307-10

Prospective study of swallowing function in patients with cervical dystonia undergoing selective peripheral denervation; A Munchau, C Good, S McGowan, N Quinn, J Palmer, and K Bhatia; J Neurol Neurosurg Psychiatry. Jul 2001; 71(1): 67–72.

Oropharyngeal swallowing in craniocervical dystonia, C Ertekin*, I Aydogdu**, Y Seçil, N Kiylioglu, S Tarlaci, T Ozdemirkiran J Neurol Neurosurg Psychiatry 2002;73:406–411

Swallowing disorders in patients with blepharospasm.: Cersósimo MG1, Juri S, Suárez de Chandler S, Clerici R, Micheli FE. Medicina (B Aires). 2005;65(2):117-20

http://www.infodystonia.com/post/24333066534/swallowing-difficulties-after-botox-injections-what-to

 

 

 

Understanding dystonia and its treatment. Video on questions & answers

Dr. Marie-Hélène MarionLeave a comment

A good knowledge of the dystonia is important for a patient to become actor of its treatment. The Dystonia society UK asked me to answer to the most frequent questions coming from their members. Please follow this link if you want to watch this video posted on the Facebook pageof the Dystonia society.

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The questions were as follow:

What causes dystonia in adults? Can any vaccine, peripheral nerve damage, the menopause or the surgery has any affects? (Time 1.00)

Does dystonia spread? If so, are there any particular parts of the body it spreads to and from? (Time 6.20)

How long do the symptoms carry on getting worse? (Time 7.58)

I understand Botulinum toxin is a type of poison. Is it safe to use? (Time 13.35)

Can Botulinum toxin be used in pregnancy? (Time 13.39)

Is there a way to avoid side effects from Botulinum toxin such as pain at the injection sites, swallowing difficulties, blurred vision? (Time 15.21)

How can I manage pain in dystonia if it is not relieved by Botulinum toxin? Is it OK to take pain medications on long term basis? (Time 18.57)

Why is my Botulinum toxin not working? Might is this because I become immune to the toxin? (Time 20.41)

Is Artane (Trihexyphenidyl) helpful? Is there an age limit for taking it? (Time 31.54)

Can physiotherapy or mind retraining help? (Time 36.50)

Might diet or complementary therapy help to manage dystonia? (Time 39.09)

I hope it will contribute to a better understanding of dystonia by the patients themselves and help them to cope better in their daily life.

Dr MH Marion

How does my jaw move?

Dr. Marie-Hélène MarionLeave a comment

The functional anatomy of the jaw is essential to understand dystonic movements of the jaw when a patient is eating or speaking. The chewing movements are extremely complex and I will detail only the main posture of the jaw, following dystonic spasms.

The jaw can move in a vertical plan, with opening or closing the mouth

The jaw can move in a saggital plan, the jaw going forward ( protrusion) or backward ( retrusion)

The jaw can move in a lateral plan, the jaw going side to side or going down and to one side, called deviation of the jaw.

The masticatory muscles, responsible of these movements are 4 pairs of muscles ( masseters, temporalis, median pterygoid and lateral pterygoid muscles) and the mouth floor muscles ( supra-hyoid muscles).

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A combination of these movements is usually involved in the dystonic spams of the jaw. The video recording of a patient when chewing can be very helpful for analysing in details the dystonic spasms.

Dr MH Marion at the London BTX centre, is specialised in the treatment of dystonia, and injects under electromyogram guidance the masticatory muscles involved in oro-mandibular dystonia.

My jaw is out of control when speaking or chewing: what does it mean?

Dr. Marie-Hélène MarionLeave a comment

                                     image

                                                    the Iron jaw in circus

Eating is a simple pleasure of life and a necessity. Biting into a biscuit could require a tremendous effort when the movements of the jaw become out of control. The automatic movements of the jaw and the tongue, which allow us to eat or speak, can be disrupted by involuntary jaw spasms.

 

What are the causes of jaw spasms?

1-Idiopathic jaw dystonia is the most common cause of jaw spasms. The onset is between the age of 50 to 60 and it is more frequent in women. Dental works can trigger it. It’s called idiopathic dystonia as no underlying disease can be found. A genetic mutation has been identified in familial form of jaw dystonia ( DYT6).

2-Tardive jaw dystonia can follow a treatment with drugs used for the treatment of psychosis, called neuroleptics.

3- Hereditary disease affecting the brain is often the cause of jaw spasms occuring in young people, under the age of 20.

4- Hemi-masticatory spasms is usually a consequence of radiotherapy of the jaw area for cancer of the ENT sphere. In that case, the spasm is painful and affecting one side of the jaw with sudden, unexpected painful clenching of the jaw.

Are there different types of jaw dystonia?

1-The jaw spasms can be closing spasms with sudden clenching, responsible of tongue biting, teeth breaking and limitation to open the mouth wide

2-The jaw spasms can be opening spasms, responsible of difficulties to keep the mouth closed and to keep the food into the mouth. Often the tongue is involved and has a tendency to poke out the mouth.

3- The jaw spasms can also move involuntary the jaw side to side, or on one side only, or forward (protrusion) or backward (retrusion)

The movement involved in eating and speaking are incredibly complex and the dystonic spasms can be a combination of opening, deviation to one side and going backward or forward.

What are the characteristics of jaw dystonia?

The jaw spasm occurs in any attempts of eating and/or speaking, therefore the diagnosis requires looking at the patient performing these tasks. The doctors should have a box of biscuit available to examine their patients with dystonia!

The spasm are relieved by some tricks like keeping a sweet in the mouth or a chewing gum, sucking a matches or the temples of their spectacles.

How to treat jaw dystonia?

 

The most efficient treatment is the Botox injections of the masticatory muscles.

            -The muscles, which close the jaw, are the masseters, the temporalis and the median pterygoid muscles

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Masseters, closing jaw muscles

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Temporalis, closing jaw muscles

Figure adapted from Travell and Simons’  

-The muscles, which open the mouth, are the lateral pterygoid and the mouth floor muscles.

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Mouth floor muscles ( opening jaw muscles), also called supra-hyoid muscles

Figure adapted from Travell and Simons’

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Median ( closing jaw muscles) and lateral pterygoid (opening jaw muscles)

Figure adapted from Travell and Simons’

‘Some of these muscles are superficial and easy to inject ( masseters, temporalis,mouth floor muscles), some are deeper (median an lateral pterygoid muscles) and requires to be injected with electromyography guidance.

The difficult part is to analyse the abnormal movements and understand which muscles are involved in the dystonia. It can take many injections sessions, to get the spasms under control. The 2 limiting factors are the swallowing difficulties, due to the spread of the Botox , in particular when the tongue  muscles have to be injected.  Starting with small doses and increasing gradually the dosages is advisable.

The human masticatory muscles are very strong, in particular the muscles which closed the mouth; just think of the acrobats in a circus who get suspended by biting a mouthpiece. But at least injecting jaw muscles in human is possible if we compared them to the jaw clamping muscles of the crocodiles, which are extremely strong, and as hard as bone.

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 Strong closing jaw muscles of the crocodiles

Dr Marie-Helene Marion is a specialist in Botox treatment for jaw spasms, and in particular for jaw and tongue dystonia.

My head shakes: is it dystonia?

Dr. Marie-Hélène MarionLeave a comment

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Keith Haring

Millions of people all over the world, uses her head and neck to carry heavy goods. The control of her head posture must be phenomenal and does not allow any slight involuntary movement of her head. Unfortunately, for some people the head starts shaking and even without relying on their head as a way of carrying, they found this condition very disabling.

 Head tremor described a movement of oscillation of the head, making the head going side to side, called no-no tremor or up and down, called yes-yes tremor. The tremor can be regular like a pendulum or irregular, with the head going further away from time to time.

Head tremor can be due to a condition called essential tremor (essential head tremor: EHT) or due to dystonia and in that case the tremor is labeled dystonic tremor (dystonic head tremor: DHT).

The clinical diagnosis of the different types of head tremor can be a dilemma when the head tremor is isolated, as neurologists don’t agree between themselves on the definition of dystonic tremor. Nevertheless, the distinction needs to be done, as the treatment and the prognosis may differ.

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Table1: Differential diagnosis between essential head tremor and dystonic head tremor. Dr Marie-Helene Marion, 2013, www.infodystonia.com

ESSENTIAL HEAD TREMOR

  1. Essential tremor (ET) is a clinical description of a familial regular tremor, which affects 50% of the siblings when one parent is affected.
  2. ET can affect hands, head, chin, tongue and voice.
  3. Women with ET have more chance to develop a head tremor.
  4. ET occurs on posture, so the essential head tremor (EHT) is present when sitting, walking and disappears when lying down.
  5. ET, mainly when the tremor is affecting the hands, has the particularity of being improved by drinking alcohol and responding to beta-blockers drugs such as Propanolol.
  6. EHT is not controlled by sensory trick such as touching the cheek or the chin with the hand.
  7. EHT is always associated with other tremor in the arms or tongue or voice.  A collaborative study between Turkey and USA looking at head tremor due ET (583 ET cases) has not found one isolated case of head tremor; all were associated with at least a mild hand tremor. 

DYSTONIC HEAD TREMOR, WITH FOCAL DYSTONIA.

  1. · Dystonic head tremor (DHT) is an irregular head tremor, which is easy to diagnose when it occurs in a patient with a obvious cervical dystonia (with abnormal head posture and muscle spasms), and considers as a tremulous cervical dystonia. DHT is one of the first symptoms of cervical dystonia in 30% of the cases and is reported in 30% to 60% of the established CD cases.
  2. · DHT can also be present in absence of neck dystonia, but associated with other focal dystonia, such as blepharospasm, oro-mandibular dystonia, voice dystonia or even a writer’s cramp. Therefore patients with head tremor need to be examine thoroughly when speaking, eating, writing…

 ISOLATED DYSTONIC HEAD TREMOR

DHT can be present but without any associated dystonia on examination; the diagnosis in that case is more difficult.

·      The family history of tremor or dystonia can be absent as the penetrance of the gene for focal dystonia is low (it means that the genetic abnormality can stay silent and is not always associated with dystonic symptoms and therefore can “skip a generation”).

·      The diagnosis of dystonic head tremor will be made clinically on the association of others signs.

1.    The head tremor is irregular on observation

2.    The head tremor is relieved by a sensory trick (similar to what describes for cervical dystonia) with fingers on the cheek or the chin.

3.    The head tremor persists when patient lying down.

4.    The head tremor is worst in certain position of the head (position dependant).

5.    The head tremor is associated with an irregular tremor of one hand, suggestive of a dystonic arm tremor as irregular and existing only in one hand. (at the difference of ET tremor which affects both hands).

6.    The head tremor is isolated, with no tremor in the hands or in the face or voice. (at the difference of EHT which is always associated with tremor in other part of the body).

CONCLUSION

Despite the fact that the patients are not always aware of their head tremor, in particular in case of EHT, head tremor can be very disabling socially.

Head tremor can benefit from therapeutic options such as drug treatment and Botox injections, which have to be offered depending of the type of tremor.

Further research is needed to characterize more precisely this movement disorder. May be it will come from unexpected study such as the episodic head tremor observed in Doberman Pinsher dog …

 Dr Marie-Helene Marion is a London neurologist, specialist in dystonia and its treatment with Botox.

Doberman Pinsher dog

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REFERENCES:

1-Can J Neurol Sci. 2000 May;27(2):137-42.

Head tremor in cervical dystonia. Pal PK, Samii A, Schulzer M, Mak E, Tsui JK

2-Arq Neuropsiquiatr. 2008 Dec;66(4):805-8.

Head tremor in patients with cervical dystonia: different outcome? Godeiro-Junior C, Felicio AC, Aguiar PC, Borges V, Silva SM, Ferraz HB

3-J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):179-81. doi: 10.1136/jnnp-2011-300823. Epub 2011 Nov 5.

Supine head tremor: a clinical comparison of essential tremor and spasmodic torticollis patients.Agnew A, Frucht SJ, Louis ED

4-Mov Disord. 2000 Sep;15(5):960-4.

Quantification of sensory trick impact on tremor amplitude and frequency in 60 patients with head tremor.Masuhr F, Wissel J, Müller J, Scholz U, Poewe W

5-Mov Disord. 2009 Nov 15;24(15):2281-5. doi: 10.1002/mds.22777.

Isolated head tremor: part of the clinical spectrum of essential tremor? Data from population-based and clinic-based case samples.. Louis ED, Dogu O

 6-Mov Disord. 2011 Nov;26(13):2381-6. doi: 10.1002/mds.23936. Epub 2011 Sep 13.

An inherited episodic head tremor syndrome in Doberman pinscher dogs.Wolf M, Bruehschwein A, Sauter-Louis C, Sewell AC, Fischer A.

Living with dystonia: disability, distress and despair

Dr. Marie-Hélène MarionLeave a comment

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.