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.

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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….