Dystonia

Dystonia is an involuntary muscle contraction that twists a part of the body, holds it in an unnatural posture or drives it through the same movement again and again. The muscle tightens at the same time as its opposite number, so trying to straighten out achieves nothing: the harder a person resists, the firmer the spasm holds. It is neither rare nor imaginary — dystonia is the third commonest movement disorder — and yet years often pass between the first symptoms and the right diagnosis. What follows covers how it looks, where it comes from, and the situations in which finding the cause cannot wait.

What the spasms are like

Dystonic movements are slow, sustained and repetitive, usually with a twist or a pull to one side. The head goes sideways and down, the eyelids clamp shut and will not open, the fingers lock into a grip, the foot turns inwards on walking. A tremor often joins in — less regular than an ordinary tremor, and noticeably worse when the person tries to hold the position the spasm is pulling away from.

Several features identify dystonia almost unmistakably.

• It is tied to a task. The spasm is not constant but appears with a particular activity: the hand cramps while writing but not while playing the piano; the voice breaks in conversation but not in singing.
• The sensory trick. A light touch to the cheek, the chin or the back of the head removes the spasm completely for a while. Not force — touch. It is a highly characteristic sign and worth mentioning to the doctor even if it sounds odd.
• A better morning. The first hours after sleep can be nearly normal, with the symptoms building through the day.
• It vanishes in sleep. While the person is asleep there are no spasms.
• Overflow. The tension spreads to neighbouring muscles as the demand grows: write for long enough and the shoulder starts to lift.

Tiredness, nerves, being watched, pain, caffeine and a hangover all make things worse. Plenty of people notice that everything deteriorates in company and conclude that it must therefore be nerves. That conclusion is wrong: stress amplifies almost any movement disorder, but it does not create one.

Where it shows itself

Dystonia is grouped by how much of the body is involved, and which group it falls into decides both the treatment and the outlook.

• The neck. The commonest adult form: the head pulls to one side, forwards or backwards, the neck aches, and the muscles on one side become firm and thickened. The older name is spasmodic torticollis.
• The eyelids. Forceful repeated closure, sometimes to the point where the eyes cannot be opened at all, leaving a person functionally blind with completely healthy eyes.
• Face, jaw and tongue. The mouth opens or clenches against the will and the tongue pushes forward; speech and eating both suffer. Combined with eyelid closure it forms a recognisable variant of its own.
• The vocal cords. The voice becomes strained, broken up and squeezed out, or instead drops away into a whisper. Singing and laughing may sound entirely normal.
• The hand. Writer's cramp and its relatives in musicians, typists and athletes: the hand seizes up precisely during the movement that practice has made automatic.
• Several neighbouring areas at once or the whole body. The generalised form usually begins in childhood, most often in a foot, and works its way upwards.

The general rule is this: the earlier in life dystonia begins and the lower down the body it starts, the more likely it is to spread. Dystonia that starts in adulthood in the neck or eyelids usually stays where it started.

Why it happens

Underneath it lies a fault in the deep brain structures that select the movements needed and switch off the surplus ones. The command reaches the muscle with unwanted company, and instead of one movement several arrive laid on top of each other.

The causes fall into two broad groups. In the first, dystonia is the only problem, and genetics is often behind it: several dozen genes are now known, and they are looked for particularly when the illness began in childhood or when similar stories run in the family. In the second group dystonia follows other damage: the consequences of a difficult birth and cerebral palsy, a previous stroke, a head injury, multiple sclerosis, Parkinson's disease and, less often, a tumour or past inflammation of the brain.

One cause deserves separate mention because it is so easily missed: medicines. Dystonia is triggered by drugs that block dopamine receptors, which means antipsychotics and — less obviously — the ordinary anti-sickness medicines used to settle nausea. The reaction comes in two forms, an acute one within hours or days of starting, and a late one appearing after months or years of treatment. That is why the doctor needs the complete list of medication, including anything prescribed "for a couple of days" and stopped long ago.

What must not be missed

Most dystonia comes on slowly and can be worked through calmly. But there are situations where waiting is expensive.

• An acute drug reaction. Hours or days after a first dose of an antipsychotic or an anti-sickness drug, the neck, jaw or tongue seizes abruptly and the eyes roll upwards and will not come down. It looks frightening and is sometimes mistaken for a panic attack. This is an emergency: it is reversed quickly with a specific medicine in hospital, and without help a spasm of the larynx with breathing difficulty can join in. Call an ambulance and be sure to name the drug.
• Continuous severe spasms of the whole body. If an attack will not let go for hours and comes with high fever, severe pain, dark urine or difficulty breathing, this is a state that needs intensive care. An ambulance immediately; in Spain, Italy, Portugal, Poland and Ukraine the single European number 112 works.
• Dystonia in a child, a teenager or a young adult. Here the inherited disorder of copper handling is always ruled out: copper builds up in the liver and the brain and, besides dystonia, produces tremor, slurred speech, changes in character and liver damage. It is diagnosed with ordinary tests, and treatment exists and works — but the disease that gets missed ends badly, so it is checked for in every young patient with unexplained dystonia.
• Dystonia that changes through the day. A child who walks normally in the morning and by evening turns the foot in and tires visibly may have a rare form in which small doses of the medicine that replaces dopamine remove the symptoms almost entirely and permanently. That is exactly why every child with unexplained dystonia is given that trial: the cost of the error is years of disability instead of a tablet.
• Rapid progression, involvement of one side only, or the arrival of other symptoms — weakness, numbness, trouble swallowing, loss of vision. That calls for a search for structural damage in the brain rather than watchful waiting.

How the diagnosis is reached

No test confirms dystonia: the diagnosis is clinical, and it is made by a neurologist, ideally one who works with movement disorders. The doctor watches how the person walks, writes, speaks and holds their head, asks for the movements that provoke the spasm and checks for the sensory trick. A video filmed at home when the symptoms are strong helps enormously, because in a consulting room they are often noticeably milder.

Further investigations are not there to "see the dystonia" but to find or exclude a cause. Usually that means an MRI scan of the brain and blood and urine tests, including the measures of copper handling in younger patients, with genetic testing and a trial of the dopamine-replacing medicine where these are needed.

Something else happens annoyingly often and deserves saying. Dystonia is taken for other things for years: neck spasm for wear and tear in the spine or a draught, eyelid closure for dry eyes, a broken voice for laryngitis, writer's cramp for carpal tunnel syndrome. It is also frequently declared psychological, because it worsens with nerves, improves when the face is touched and disappears in sleep. All of those are features of dystonia itself, not of nerves. If you are told it is all in the mind and the treatment achieves nothing, a second opinion from a movement disorder specialist is worth having.

What helps

Dystonia cannot yet be removed altogether, but the symptoms can be controlled in most people, and that changes daily life a great deal.

• Botulinum toxin injections are the mainstay in focal forms — neck, eyelids, vocal cords, hand. The drug goes precisely into the muscles that are overpulling, the effect builds over a few days and lasts about three months, after which the treatment is repeated. Accuracy decides everything here, so it matters who selects the muscles and the dose and how.
• Tablets. Several classes are used: anticholinergics, medicines from the benzodiazepine group, muscle relaxants, and in particular forms the drugs that replace dopamine. They do not suit everyone and need careful adjustment, because every class carries its own side effects.
• Deep brain stimulation. A small pulse generator is placed under the skin of the chest and fine electrodes are led to deep nuclei in the brain. It is considered in generalised forms and in severe neck dystonia once injections have stopped working; in inherited forms the results can be very good.
• Physiotherapy and occupational therapy. Stretching, posture work, retraining the movement, and adaptations that run from a pen grip to a change in desk height. In the vocal form a speech and language therapist joins in.
• Treating the cause where one is found: withdrawing or swapping the drug responsible, treating the copper disorder, managing the underlying neurological disease.

Among the simple measures, what helps is usually what people discover for themselves: their own sensory trick, short breaks taken before the spasm builds, a warm shower over the neck muscles, enough sleep. None of that is treatment, but the day goes better with it.

Living with dystonia

The course varies from person to person. Symptoms typically build over a few years and then settle; some people go through spells of spontaneous improvement, occasionally lasting months, and a small proportion have sustained remissions, which admittedly tend to end in a return. It rarely disappears entirely on its own, but relentless decline into severe disability is not the usual story either.

The most underrated part of all this is pain and what follows from it. In neck dystonia almost everyone hurts, and it is the pain rather than the posture that more often makes work impossible. On top of that comes the social side: people become self-conscious about how they look, avoid meeting others, and the circle gradually narrows. Anxiety disorders and depression are considerably more common in dystonia than in the population at large, and they are part of the illness rather than a weakness of character. They are worth raising with the doctor alongside the muscle symptoms: help exists and it improves how a person feels overall.

Practical details carry weight too: agreeing an adjustment to the workstation with an employer, putting important tasks in the first half of the day if mornings are your better time, and finding a patient organisation — particularly useful in dystonia, because the condition is unfamiliar and has to be explained to people constantly.

Online consultation

A remote appointment is a good way to do the thing that most often gets put off: show the symptom to a doctor and work out who to see next. The doctor will ask when and how it began, which actions bring the spasm on, whether a touch relieves it and whether it varies through the day, will go through the full list of your medicines including anti-sickness ones and the family history, will look at any video you have filmed, and will explain which investigations are worth having in hand before the neurology appointment. It is also a convenient way to discuss what to do between injections when the effect wears off early, and how to handle the neck pain. The situations in the emergency list are not managed remotely: with those, an ambulance is called straight away.

This material is for information only and does not replace medical advice.