Dr marion neurologist

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.

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

Dr. Marie-Hélène MarionLeave a comment

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!).

Are all the blepharospasms the same?

Dr. Marie-Hélène MarionLeave a comment

Are all Blepharospasms the same?

 BSP can vary from one patient to another and also change overtime after few sessions of Botulinum toxin injections.In daily life, we can close our eyes in different ways; for instance when we are in the shower and we get shampoo into our eyes (by the way I am not sure that shampoo are still stinging), we spontaneously frown, screw and close our eyes very tight. On the other hand when we go to sleep, we pulled down very gently our eyelids, which feel heavy. In case of a patient with BSP, there is the same diversity; the eyes can closed very tight with a forceful spasm of or closed with only the eyelids pulling down, despite sometimes one finger trying to hold it up.

The orbicularis oculi muscle which is the muscle responsible of closing the eyes are organized in 3 circular parts: an inner circle (the pretarsal part responsible of the eyelid going down), a middle circle (the preseptal part) and an external circle (the orbital part); these 3 parts can contract independently.In the situation of the shampoo in the eyes, it’s the orbital part, which is contracting. When sleeping, it‘s only the pretarsal portion of the orbicularis oculi, which is involved, pulling down the eyelid.

When treating the patient with injection of Botulinum toxin, the sites of the injections have to be placed in the right portion of the orbicularis oculi muscle depending of the type of BSP.  The treatment needs to be customized for each individual, not very far from the world of the haute couture!

Welcome

Dr. Marie-Hélène MarionLeave a comment

I have been treating patients with dystonia for the last 25 years with Botulinum toxin injections. Patients have many questions left unanswered because dystonia is a rare condition and the image of Botox has been diverted to the cosmetic industry. Patients with hyperhydrisosis also feel very isolated and often don’t dare talking about their condition. The aim of this blog is to help patients to carry on …

Dr MH Marion