Dystonia: what it is, symptoms, causes and treatment

NHS inform describes dystonia as a neurological movement disorder in which people have involuntary muscle spasms and contractions. Movements are often repetitive and cause unusual, awkward and sometimes painful postures. Tremor is often associated with some types.

It can be a condition in its own right (primary dystonia) or a symptom of another condition (secondary dystonia).

Dystonia UK says dystonia is estimated to affect at least 100,000 people in the UK.

The NHS says dystonia can affect your whole body or just one part, and can start at any age. The symptoms may be continuous or come and go.

• Uncontrolled muscle cramps and spasms.

• Parts of your body twisting into unusual positions, such as the neck twisted to the side or the feet turning inwards.

• Shaking (tremors).

• Uncontrolled blinking.

The NHS says symptoms may be triggered by things like stress or certain activities. It lists the following:

• Tiredness.

• Stress.

• Drinking alcohol or caffeine.

• Talking.

• Eating or chewing.

• Activities like writing, typing or playing an instrument.

NHS inform splits dystonia into generalised dystonia, which affects all parts of the body, and focal dystonia, where only one muscle group is affected. It says the most common type of focal dystonia is neck dystonia (cervical dystonia).

The NHS says treatment can help relieve the symptoms and that the best option depends on the type of dystonia. NHS inform says you may need to try several treatments to find out which works best.

• Botulinum toxin injections directly into the affected muscles, which the NHS says need to be repeated about every 3 months.

• Medicines to relax muscles over a larger part of the body, given as tablets or by injection into a vein. NHS inform names anticholinergics, baclofen and muscle relaxants.

• Physiotherapy and occupational therapy, which may help.

• Deep brain stimulation (DBS), the main type of surgery, which the NHS says may be offered if other treatments do not help.

NHS inform says that if you have focal dystonia you might be offered botulinum toxin, injected into the affected muscles, where it blocks neurotransmitters in the nerve and reduces muscle spasms. It says the effects can last from around 3 to 6 months.

Dystonia UK says the injections usually take a few days to have an effect and can last from 12 to 16 weeks. It says injections are generally more suitable for dystonia limited to one or two areas than generalised dystonia.

Dystonia UK lists possible side effects as pain from the injection, flu-like symptoms, pain and bruising at the site, and unwanted or excessive muscle weakness around the injected muscles. It says site-specific effects include swallowing difficulty in neck dystonia and eye problems for eye dystonia.

The NHS says DBS involves inserting a small device, similar to a pacemaker, under the skin of the chest or tummy. The device sends electrical signals along wires placed in the part of the brain that controls movement.

NHS inform says it is offered to some people where other treatments have not been successful, and that it will be several weeks or months before you begin to feel the benefit.

The NHS says dystonia is caused by a problem with the part of the brain that controls movement, and often it is not known why this happens. It lists the following possible causes:

• An inherited genetic problem.

• A side effect of certain medicines, such as antipsychotic and anti-sickness medicines.

• Parkinson's disease.

• A stroke.

• Cerebral palsy.

• Multiple sclerosis.

The NHS says to see a GP if you think you might have dystonia. If your GP thinks you could have it, they will refer you to a neurologist for tests.

A neurologist may ask about your symptoms, other conditions and medicines, and whether anyone in your family has dystonia. They may carry out blood and urine tests and arrange a brain scan.

NHS inform says tests may be needed to confirm whether you have primary or secondary dystonia.

The NHS says dystonia affects people in different ways and severity can vary from one day to another. It can have a big effect on life and make daily activities painful and difficult.

It is usually lifelong, may get worse for a few years but then remain steady, and occasionally can improve over time.

Dystonia UK offers support. Its pages also describe treatments such as occupational therapy, speech and language therapy and physiotherapy.

See a GP if you think you might have dystonia, because the NHS says it is best to get the symptoms checked out even though it is uncommon.

Because dystonia can be a side effect of some medicines, do not stop a prescribed medicine yourself. Ask the prescriber.

On the NHS the route is your GP, then a neurologist. Botulinum toxin is given by trained clinicians; Dystonia UK says injections are given by a doctor, physiotherapist or dystonia nurse, and points to the British Neurotoxin Network for lists of UK services. DBS is a specialist surgical service.

Private neurology consultations are also available. Ask which type of dystonia you have, because the options depend on it.