Lid watching, a lost art!

 

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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

 

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Understanding dystonia and its treatment. Video on questions & answers

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

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.

So many different types of focal dystonia!

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”…

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