Dystonia

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

Dr. Marie-Hélène MarionLeave a comment

               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.

Living with dystonia

Dr. Marie-Hélène MarionLeave a comment

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 disease: the spontaneous remissions, the dystonic storms, the 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.

Meige syndrome

Dr. Marie-Hélène MarionLeave a comment

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

The Bali’s dancers head posture in patients with neck dystonia.

Dr. Marie-Hélène MarionLeave a comment

Sometimes the analysis of the posture of a patient with cervical dystonia can be tricky; For instance the horizontal translation of the head is a movement that the dancers from Bali can do side to side so graciously. For us European it’s far from natural to dissociate the movement of the head from the neck in a side to side shift. Dystonic patients sometimes have their head shift to one side ….

The Bali’s dancers head posture in patients with neck dystonia.

The horizontal shift of the head.

Sometimes the analysis of the posture of a patient with cervical dystonia can be tricky; For instance the horizontal translation of the head is a movement that the dancers from Bali can do side to side so graciously. For us European it’s far from natural to dissociate the movement of the head from the neck in a side to side shift. Dystonic patients sometimes have their head shift to one side without a lateral tilt and complained of limitation of their active head and neck movements in daily life. How to analyse this dystonic posture is very important when treating the patient with Botulinum toxin injections.

Professor Reichel from Germany kindly sent me 2 weeks ago the latest English version of his book: Therapy guide spasticity-dystonia, which is a very comprehensive and practical guide of the use of Botuinum toxin in these spasticity and dystonia and reflects his vast clinical experience in these fields.

He illustrates in details the horizontal shift of the head with the underlying principle that the role of the muscles in head and neck posture depends of their insertion either on the cervical spine ( Levator scapulae, Scalenius) or on the head itself , mastoid, linae nuchae ( Sterno-cleido-mastoid, Trapezius, Splenius capitis).

The horizontal shift of the head to the right for instance will occur if at the same time the head is tilt to the left and the neck to the right. Prof Reichel uses the terminology of left laterocaput and right laterocollis.

The right levator scapulae and the right scalenius are responsible of the right laterocollis and the left Sterno-cleido-mastoid muscle, the left cervical portion of the Trapezius, and the left Splenius are responsible of the left laterocaput.

 

It seems complicated to follow but it’s quite obvious when examining the dystonic patient with the Bali’s dancer head posture.

But is this posture a primary dystonic posture or the results of an adaptation of the patient ‘s neck posture with a left laterocaput in order to keep the eye line straight when looking in front? There is a reflex loop between eye movement and neck muscles (the cervico-ocular reflex- COR), which with other reflexes prevents visual slip during head and body motion. But this reflex had been found weak or absent in cervical dystonia.

There is still a lot of unexplained observation in dystonia. Fortunately it does not stop neurologists to treat their patients with cervical dystonia with Botulinum toxin injections, based on a careful analysis of the posture.

Dr Marie-Helene Marion

Therapy Guide Spasticity: Dystonia (Uni-Med Science) G. Reichel

http://www.amazon.co.uk/Therapy-Guide-Spasticity-Dystonia-Uni-Med/dp/389599779X

Cervico-ocular function in patients with spasmodic torticollis

R Stel, M Gresty,T Metcalfe, AM Bronstein.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1014296/pdf/jnnpsyc00499-0049.pdf

 

Emergency Botox clinic for dystonic patients, provided by Dr Marie-Helene Marion, neurologist.

Dr. Marie-Hélène MarionLeave a comment

Emergency Botox clinic, for dystonic patients, provided by Dr Marie-Helene Marion, neurologist.

Severe cervical dystonia (torticollis), head tremor,  blepharospasm  and jaw spasms are so incapacitating that patients  often can’t wait 3 months or even 3 weeks to be treated. Dr M-H Marion is available to see patients at short notice and to proceed the same day with Botulinum toxin injections.

Patients who have been recently diagnosed, and have severe dystonia or dystonic tremor, sometimes find it difficult to cope any longer with the spasms in their face or neck; they may have been referred to a specialist center but have to wait for a few weeks  (or longer) to be seen and injected. Patients also who are regularly treated, require sometimes to be injected outside their normal therapeutic schedule, because the benefit is wearing off earlier, than usual or because unpredictable life events disrupt their time table or because their dystonia  has recently flared up due to stress. These patients can also benefit from Botox emergency clinics.

They will be seen in the London BTX centre, at the Wilbraham Place practice, located in Sloane square (SW1), have the choice between 2 brands of Botulinum toxin type A, and will benefit from electromyographic guided injections if required.  The exact protocol of injections with dosages and sites of injections, documented by sketches of the body part injected, will be given to the patient before leaving the practice. The GP and the regular neurologist will be kept informed.

I hope that this Emergency Botox clinic will help patients with severe dystonic spasm or tremor to get through difficult times of their life and carry on.

 

It’s not only emotion that leaves you speechless!

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It’s not only emotion that leaves you speechless! There are many reasons for losing our speech during life. Dr Marion tells you how spasmodic dysphonia is a disconcerting condition…

 Please go to the spasmodic dysphonia page to read  more or

Click on  http://drmarion-londonbtxcentre.tumblr.com/spasmodic%20dysphonia

What makes my head turn?

Dr. Marie-Hélène MarionLeave a comment

What makes my head turn? Find out with Dr Marion, neurologist which muscles of the neck are responsible of turning the head on one side in neck dystonia

What makes my head turn?

The neck muscles involved in the involuntary posture in cervical dystonia need to be identified for Botulinum toxin injections and physiotherapy. Here are some hints.

See the sketche below.

The head is placed on the top of the cervical spine and can pivot about 90 degrees on both sides. The pivot of the head is possible if one neck muscle is pulling forward and if another one on the other side is pulling backward.

The Sterno-Cleido-Mastoid (SCM) muscle

is the muscle pulling forward and rotating the head to the opposite side (right SCM turns the head to the left).

The Splenius Capitis

is the muscle pulling the head backward and rotating the head to the same side (left Splenius turns the head to the left).

The SCM muscle is a long superficial muscle easy to palpate on the front of the neck, and the Splenius is a deep muscle, difficult to palpate, behind the ear.

The shoulder muscles

In addition, there are 2 muscles which are both neck and shoulder muscles: the Levator scapulae and the Trapezius ; both lift up the shoulder, but the Levator scapulae is a deep muscle,   responsible for the posture “shoulder up and forward “ and works with the Splenius  in turning the head to the same side (the left Levator Scapulae will contribute with the left Splenuis to the rotation of the head to the left, )

The Trapezius is a superficial muscle and can contribute to the rotation of the head to the opposite side, working together with the SCM (the right Trapezius will contribute with the right SCM to the rotation of the head to the left).

These muscles are the most frequent targets for Botulinum toxin injections to control the dystonic rotation of the head. The palpation of these muscles is important, as dystonic muscles feel more bulky under the fingers.

It may sound complex but looking at the drawing should make it simpler to grasp…

Marie-Helene Marion

London BTX centre

 

So many different types of focal dystonia!

Dr. Marie-Hélène MarionLeave a comment

So many different types of focal dystonia!

 Depending of the body part affected,

 ·      Eye closure is called Blepharospasm (blepharo means eyelid in Greek).

·      Jaw opening or clenching is called Oro-mandibular dystonia (oro means mouth and mandibular means jaw in Latin).

·      Tongue protrusion is called Tongue dystonia

·      Twisting of the head to one side is called Cervical dystonia (cervic means neck in Latin).

·      Writing difficulty is called Writer’s cramp.

·      Back arching, or trunk bending forward is called Axial dystonia (axial means axis as the spine).

·      Walking or running difficulty is called the “ Crampe du marcheur” in France!

·      Difficulty playing a musical instrument is called Musician’s cramp.

·      Speaking difficulty is called Spasmodic dysphonia (phonia means the speech).

 They usually start in adulthood and remain focal, without spreading to adjacent part of the body.

H.Oppenheim, 100 years ago was the first to use the word “ Dystonia”…

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H.Oppenheim, 100 years ago was the first to use the word “ Dystonia”…what does the word Dystonia means? Dr Marion will take you back 100 years ago…

Dystonia is a neurological condition, characterized by involuntary sustained pulling of the muscles in one part of the body (focal dystonia, mainly in adult) or spread in the all body (generalized dystonia, mainly in children) and associated with abnormal postures.

The word “Dystonia” is composed of Dys (meaning abnormal) and Tonia ( meaning the tone ) . The tone represents how flexible or stiff is a part of the body. Oppenheim coined the word “Dystonia” in 1911 to describe an abnormal muscle tone, different from what was observed following stroke (spasticity). Oppenheim described children, from Ashkenazi Jewish descent, affected with generalized dystonia and called this condition “ Dystonia musculorum deformans”. In 1989, Laurie Ozelius established that a gene (called DYT1) on chromosome 9 was responsible of the ‘Oppenheim dystonia”.

 http://en.wikipedia.org/wiki/Hermann_Oppenheim

http://brain.oxfordjournals.org/content/97/1/793.extract

http://www.ncbi.nlm.nih.gov/pubmed/2576373

Cervical dystonia: what does the examination look for?

Dr. Marie-Hélène MarionLeave a comment

Cervical dystonia: what does the examination look for? Dr Marion tells you how the clinical examination is important to optimise the Botox treatment.

Cervical dystonia: what does the examination look for?

 Patients with cervical dystonia described at onset an intermittent feeling of pulling in the neck muscles; over the months, the head take an abnormal posture. Torticollis is defined by the head (the chin) turned to one side; laterocollis by the head tilt toward one shoulder; retrocollis by the head pulled backward in extension, chin up; antecollis by the  head  flexed downward, chin down to the chest. These abnormal postures are due to the involuntary movement of the neck on the trunk. There is also the possibility of abnormal movement of the head on the neck, the head going forward like a goose or going backward giving a double chin posture.

The diagnosis of cervical dystonia is made on the involuntary movement and the abnormal posture of the head, and often delays by many years from the onset of symptoms. They are other rare causes of abnormal posture of the head that a neurologist can exclude by a neurological examination and investigations.

 But like the BSP, every patient is different and need to be examined carefully to document precisely the abnormal dystonic posture to know which muscle is pulling too much! Then these muscles, which are responsible of the pulling, will be the one to inject with Botulinum toxin.  The difficulty comes from the action of the neck muscles which are often mixed (rotating the head on one side and tilting on the other side), resulting in mixed abnormal posture of the head (predominant rotation with a degree of tilt and extension).

It’s best to see the patient at his worst!

The patient is asked to walk, to stand up, to write or to lie down depending of the triggering factors. Usually the worst posture is achieved standing, eyes closed. The fixation of the eyes on an object helps the person to keep the head straight; when closing the eyes, the head lost the visual cue and shift to its maximal abnormal posture. Then to write down the degrees of the rotation, tilt, extension and flexion to be able at the next visit to assess the improvement under treatment.

It’s also important to see the patient at his best!

I ask the patient if he has a “geste antagoniste” (French expression also used by the Anglo-Saxons neurologists!); for instance stopping the pulling in rotation by touching with one finger the cheek without exerting an opposing force to the movement. What’s count is the improvement of the pulling by simply touching a part of the head or neck. It’s also called sensory trick and it’s a hallmark of the dystonic phenomenon.

Then when the posture is clearly documented, identifying which are the leading muscles behind, is based on surface anatomy (palpation) and functional anatomy (which muscle is doing what!).