What is Dystonia ?

Dystonia is a neurological movement disorder characterised by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions (Fahn 1987).

Dystonia is not a disease, but a description of a pattern of abnormal muscle contractions (or spasms), which can have many causes. Dystonia can cause twisting movements, muscle spasms and tremor. The muscles affected depend on the underlying cause. For many patients the cause is simply not known. Typically in younger patients the legs may be affected and in older patients in may be involvement of the muscles of the face (hemi-facial spasm), eyes (blepharospasm) or neck (torticollis). In older patients it is much less common for the symptoms to spread from one body part to the other.

Dystonic spasms increase during stress, emotional upset, or fatigue and spasms tend to decrease in intensity during periods of rest or sleep.

Dystonia is unusual in that particular tasks or situations may make it worse. For example writer’s cramp is thought to be a form of dystonia where abnormal movements of the hand and fingers may be seen exclusively on writing.

Some patients can control their dystonia by applying sensory stimuli such as touch or pressure to affected or adjacent body parts.  This is known as a sensory trick another unusual feature almost unique to dystonia.

Why has nobody heard of Dystonia ?

Dystonia is much more common than you think. It is probably at least 10 times more common than other more well recognised neurological conditions such as motor neuron disease or muscular dystrophy. Part of the problem in recognising the condition is due to the fact that it is not a single disease with a single cause and there is no easy test (eg blood test) to diagnose the disorder.

Furthermore, due to the variability and seemingly bizarre nature of dystonic symptoms, until relatively recently the medical profession had held the belief that many patients with dystonia may have underlying psychiatric disease as a cause of their symptoms. Thankfully these days are long past and there is now almost universal acceptance that dystonia is a neurological disorder.

Dystonia can present in unusual ways, such as with tremor of the hands, involuntary eye closure, twisting of the foot after walking and sadly many patients are not diagnosed until they have suffered from their symptoms for a considerable period of time. They may have been sent to a number of health care professionals before the condition is even suspected. The Dystonia Society (see quick links page) is trying to raise public perception and awareness of the disorder as dystonia, for many patients, can cause disabling symptoms and there are effective therapies that can be offered.

What causes Dystonia ? 

Sometimes dystonia may be seen as part and parcel of an underlying neurological or developmental disorder or secondary to brain injury (eg cerebral palsy or stroke). There are a few patients where dystonia seems to be inherited, these patients would typically present at quite a young age with more widespread dystonia affecting the trunk and limbs and sometimes gene tests can be performed (eg Dyt1 gene). However for the vast majority of adult patients there is no family history of dystonia (and thus a very low risk of passing the condition on) and one has to presume that the symptoms must be caused by a number of interacting factors including certain unknown environmental factors.

One may occasionally see dystonia develop after a seemingly trivial physical injury or after exposure to certain medications, but there must be additional factors to explain why some people develop symptoms in these situations whereas most others do not.

Although dystonia is variable and not in itself a disease with a single cause, an experienced physician can recognise particular groups of sub-sets of patients which can be used to guide discussions on prognosis and treatment.

How can Dystonia be treated ?

As dystonia is so variable between individuals one cannot take a ‘one size fits all’ approach. One would presume that if the cause of the dystonia can be identified then dealing with this can alleviate the symptoms. However for most patients the cause is not known and for the few patients in which one can find an identifiable cause this may not be easy to treat. The exception to this is a very rare condition called Wilson’s disease. This is seen in younger patients presenting under the age of 50 and may cause abnormal copper deposition in organs such as the brain, eye and liver. Identifying this disorder with blood, urine and eye tests could result in therapies to prevent the condition from worsening.

For my patients, the treatment starts with a thorough assessment and an individual management plan. I will usually consider and discuss the roles of medication as well as non-drug strategies and physical therapies.

For most of my patients with focal dystonia, Botulinum Toxin injections are the treatment of choice and I am able to administer this in my specialist monthly clinic.

Botulinum Toxin is widely used and works by causing temporary weakness of the overactive or abnormally contracting muscles and may thus relieve pain and improve posture, tremor and function for many patients. The risks of the injections are usually small (but will be clearly discussed with you before any injections are undertaken) and for many patients the benefits of Botulinum Toxin injections are significant. However the Botulinum Toxin does not maintain its effect indefinitely and needs to be repeated at intervals varying from every 3 months to every 6 months. Most patients show a sustained benefit to Botulinum Toxin injections over years, but there are a few patients that either do not respond or show a diminishing response over time. Why some patients behave in this fashion and how best to prevent this is not known for certain, but is an area of clinical research that interests me.

What service can I provide ? 

Together with my Consultant Neurology colleague Dr Norman Kock, we run the Dystonia Clinic at Hurstwood Park. Although we can take referrals from anywhere in Sussex, there are also Dystonia clinics carried out by consultant neurology colleagues at Worthing and Hastings Hospitals.

During my training I carried out Botulinum Toxin injections for patients with dystonia at three different Teaching Hospitals in London. I am a member of the National Neuro-Toxin Network. I was one of the first physicians in South East England to use a new formulation of Botulinum Toxin injection (Xeomin) in selected patients. I have been a regularly invited speaker for the Local and Regional Dystonia Society meetings.

I am overall responsible for the management of almost 200 patients with dystonia in Sussex and neighbouring regions. I work with two Specialist Botulinum Toxin Nurses and together we see over 50 patients in our monthly clinic based at Hurstwood Park on the Princess Royal Hospital site in mid-Sussex. We are fortunate that we also have Neuro-Physiotherapy expertise in looking after patients with dystonia at Hurstwood Park. Hurstwood Park is also closely linked to the Sussex Neuro-Rehabilitation Centre which has re-located from the Southlands site to the Princess Royal Hospital site.

Dr Norman Kock, Consultant Neurologist, who also has a specialist interest in Dystonia, now provides specialist EMG guided Botulinum Toxin. This is most often used to treat focal limb Dystonia which can occur in the context of other Neurological Disorders (such as cerebral palsy, MS, stroke, brain injury or hereditary forms of Generalised Dystonia) or in conditions such as writer’s cramp/musician’s Dystonia or after trauma.

Can I be offered surgery to treat my Dystonia ?

Rarely, yes. For particular patients with more severe forms of Dystonia affecting multiple body parts (Generalised Dystonia) or severe symptoms limited to a particular region of the body that are refractory to Botulinum Toxin there are surgical strategies that can be offered to carefully selected patients (assessment made on an individual basis on the risks of surgery vs potential benefits).

I work closely with:

  • The Neurosurgeons at Hurstwood Park (who can perform microvascular decompression for hemi-facial spasm);
  • The Ophthalmologists at Queen Victoria Hospital, East Grinstead (novel treatments for blepharospasm) and
  • The Movement Disorders Unit at King’s College Hospital and the National Hospital for Neurology in London (deep brain stimulation for patients with generalised or refractory focal dystonia).

Where can I find information about Dystonia andBotulinumToxin injections ?

There is useful information on Writer’s Cramp, Hemi-Facial Spasm, Blepharospasm and Cervical Dystonia (Torticollis) as well as other less common types of Dystonia on the Dystonia Society and the WeMove websites (see quick links webpage). There is also information about therapeutic Botulinum Toxin injections.

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