The diagnosis of Blepharospasm is always delayed!

     The diagnosis of Blepharospasm is always delayed!

Blepharospasm is a focal adult- onset dystonia, responsible of an involuntary eye closure. It can start with an increased blinking explained by dry eyes, gritty eyes or intolerance to bright lights. Gradually the patient, more often a woman around her 60’s, complains of difficulty to watch TV, to drive at night or just to walk outdoors on a cloudy day

At that stage, surprisingly the diagnosis is not easily done. Why?

1-    The GP refers this lady to the eye clinic; the diagnosis of blockage of the lacrymal ducts, or of blepharitis (with an inflamation of the eyelids) are much more common conditions and often the first to be considered.

2-    The patient does not spontaneously mention that the eyes are involuntary closing. They more often talk about their heavy eyelids, or tired eyes, or intolerance to bright light (also called photophobia)

3-    The patient has often the eyes well opened when speaking and the doctor can’t document any forceful eye spasms during the clinic.

This explains that the diagnosis of dystonia (Blepharospasm, Cervical dystonia) is usually made after 5.4 years on average after onset of symptoms and at least after seeing 3 different consultants (Canadian survey of Dr Jog ).

The patient will benefit to come to the first clinic with a relative or a friend who may describe it more accurately as an external observer. I also ask my patients to stop talking and be silent for few minutes, fixing a visual target in the room; the spasms with forceful eye closure will occur 2 to 3 minutes later. It’s worthwhile waiting as it’s a great opportunity not only to make the diagnosis but also to identify the type of Blepharospasm.

 Hope this blog will contribute to an earlier diagnosis of Blepharospasm!

 Reference: Causes of treatment delays in dystonia and hemifacial spasm: a canadian survey. Jog M et al, Can J Neurol Sci 2011: 38:704-11

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.

Cervical dystonia: what does the examination look for?

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!).

Welcome

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