Dystonia

Dystonia

Introduction

Dystonia is a medical term for a range of movement disorders that cause muscle spasms and contractions.

The spasms and contractions may either be sustained or may come and go.

Movements are often repetitive and cause unusual, awkward and sometimes painful postures. Tremor (shaking) can also be a characteristic of some types of dystonia.

Dystonia is thought to be a neurological condition (caused by underlying problems with the brain and nervous system). However, in most cases, brain functions such as intelligence, memory and language remain unaffected.

Types of dystonia

Dystonia can affect only one muscle or a group of muscles. There are five main types of dystonia:

  • Focal dystonia  where a single region, such as the hand or eyes, is affected. Cervical dystonia, blepharospasm (abnormal twitch of the eyelid), laryngeal dystonia and writer’s cramp are all examples of focal dystonia. If it only affects someone during specific activities, such as writing, it’s described as task-specific dystonia.
  • Segmental dystonia  where two or more connected regions of the body are affected. Cranial dystonia (blepharospasm affecting the lower face and jaw or tongue) is an example. 
  • Multifocal dystonia  where two or more regions of the body that aren’t connected to each other, such as the left arm and left leg, are affected. 
  • Generalised dystonia  where the trunk and at least two other parts of the body are affected. The legs may or may not be affected. 
  • Hemidystonia  where one entire side of the body is affected. 

About 90% of all cases are either cervical dystonia (which affects the neck muscles) or blepharospasm (which affects the eyelids). These are both focal dystonias that tend to develop later in life. They don’t usually get any worse and no other muscles are affected.

Read more about the symptoms of dystonia.

Causes of dystonia

Exactly how dystonia develops remains uncertain, but it’s thought to be caused by a problem with the part of the brain that controls muscle movement (the basal ganglia).

If there’s no identifiable cause of dystonia, or if the cause is genetic, it’s described as primary dystonia.

Secondary dystonia is where dystonia occurs as a symptom of an underlying condition or injury. Common causes include stroke, brain injury, encephalitis and Parkinson’s disease.

Read more about the causes of dystonia.

Diagnosing dystonia

Dystonia is diagnosed by a specialist examining and recognising the typical symptoms. The type of dystonia is then classified by which area of the body is affected.

When diagnosing dystonia, it’s important to confirm whether you have primary or secondary dystonia, because this may determine the type of treatment you need.

If you have typical signs of late-onset focal dystonia, specific investigations may not be required. However, tests may be needed to confirm whether you have primary or secondary dystonia. These may include brain scans, urine or blood tests, and genetic testing.

Read more about how dystonia is diagnosed.

Treating dystonia

There’s no cure for dystonia, but the condition can usually be effectively managed. 

Treatment will vary, depending on the type of dystonia you have and the precise nature of your symptoms. However, the four main types of treatment are:

  • botulinum toxin  widely used to treat neurological conditions that involve abnormal muscle contractions, such as dystonia; it’s injected into the affected muscles to temporarily weaken them and reduce spasms
  • medication  such as anticholinergics, Baclofen and muscle relaxants
  • physiotherapy  where exercises are used to improve range of motion and posture, and prevent muscle weakness
  • surgery  if other treatments are unsuccessful, the nerves controlling the muscles causing spasms can be cut (selective peripheral denervation), or electrodes can be implanted within the brain, which are connected to a small device that’s similar to a pacemaker (deep brain stimulation)

Read more about how dystonia is treated.

Outlook

Dystonia is an unpredictable condition. It tends to progress slowly and the severity of a person’s symptoms can vary from one day to another.

Focal dystonia usually progresses gradually over a period of about five years and then doesn’t get any worse.

Sometimes, a person’s symptoms improve or disappear completely. This is known as total remission and it’s thought to occur in around 5-10% of people.

Total remission is more likely in cases of secondary dystonia, such as dystonia that occurs after a stroke. If someone has another underlying condition, such as Parkinson’s disease, the symptoms of dystonia are more likely to last for the rest of their lives.

Who is affected by dystonia?

Dystonia is generally uncommon, although it’s one of the more common neurological conditions.

Dystonia can affect men, women and children. It can be difficult to diagnose, and there may be many people with the condition who remain undiagnosed.

The Dystonia Society estimates that at least 70,000 people are affected by dystonia in the UK. At least 8,000 of these are children and young people.

Symptoms of dystonia

Causes of dystonia

Dystonia with no obvious cause, or caused by a genetic mutation, is known as primary dystonia. If dystonia is a symptom of another condition, it’s known as secondary dystonia.

Primary dystonia

Most people with primary dystonia don’t have an identified cause. A minority of cases are associated with genetic mutations, which usually begin in childhood.

There are currently over 12 types (or sub-types) of dystonia linked to genetic mutations, including generalised dystonia, dopa-responsive dystonia and paroxysmal dystonia.

Read more about the different types of dystonia.

The genes responsible for these types of dystonia are passed down through families in a pattern that’s known as autosomal dominant. This means if you have one of these abnormal genes, there’s a one in two chance your children will inherit that gene and develop dystonia.

Secondary dystonia

Secondary dystonia, also known as acquired dystonia, can have a wide range of causes, including:

  • Parkinson’s disease  a neurological condition caused by the lack of a neurotransmitter called dopamine
  • Huntington’s disease  a genetic condition that can lead to psychiatric problems and difficulties with behaviour, feeding, communication and abnormal movements
  • Wilson’s disease  a genetic condition that leads to a build-up of copper in the body’s tissues
  • multiple sclerosis  a condition caused by damage to the nervous system
  • cerebral palsy  a condition caused by brain damage that occurs before or soon after birth
  • certain medications  such as antipsychotics (used to treat certain mental health conditions) or anticonvulsants (used to treat epilepsy) which can cause dystonia in a small number of people
  • infections  such as HIV or encephalitis 
  • injury  to the skull or spine
  • brain tumours
  • stroke  a serious medical condition, where the blood supply to part of the brain is cut off
  • poisoning  such as carbon monoxide poisoning

Diagnosing dystonia

Diagnosing dystonia isn’t straightforward. It involves using a stepwise approach that starts by identifying the precise nature and specific features of your movement disorders.

The specialist will try to identify which type of dystonia classification your movement disorders fall into, taking into consideration a number of factors, including:

  • how old you were when your symptoms started
  • the order in which your symptoms developed
  • the speed at which the condition is progressing
  • the results of initial tests and investigations

It’s important to confirm whether you have primary or secondary dystonia to help determine the type of treatment you need.

In primary dystonia, muscle spasms are the only symptom and there’s no other associated condition. Secondary dystonia is caused by an underlying health condition, injury or some other type of damage.

Further tests

If you have the typical signs of late-onset focal dystonia, you may not need to have specific investigations. However, you may need to have a series of tests and examinations to confirm whether you have primary or secondary dystonia. These tests are described below:

  • Your recent medical and family history will be discussed  for example, whether you’ve recently had a head injury, or whether you have a relative with dystonia.
  • Urine and blood tests  to check how well your organs, such as your liver, are functioning and whether you have an infection or high levels of toxins in your body.
  • Genetic testing  a DNA sample can be taken from your blood and checked for the abnormal genes associated with some types of dystonia; genetic testing can also confirm whether your dystonia is caused by a genetic condition, such as Huntington’s disease.
  • magnetic resonance imaging (MRI) scan  can check whether there’s any damage to your brain, or whether you have a condition that’s affecting your brain, such as a tumour.

If you have early-onset dystonia, you may also be given a course of medication called levodopa. If your symptoms improve significantly after taking levodopa, a diagnosis of dopa-responsive dystonia can be made.

Treating dystonia

There are a number of treatment techniques that can control the involuntary movements and spasms of dystonia, including medication, physiotherapy, and in some cases, surgery.

The aim is to provide relief from the abnormal movements and postures of dystonia, plus any associated pain and discomfort.

In some cases, other conditions that arise as a result of dystonia, such as stress, anxiety or depression, may also need to be treated.

Treatment for dystonia should be based on the individual and their specific needs. As different people respond differently to different treatments, it may be necessary to try several options to find out which one works best.

There are four main types of treatment for dystonia. They are:

  • botulinum toxin
  • medication
  • physiotherapy
  • surgery, including deep brain stimulation (DBS)

Wherever possible, physiotherapy, medication or botulinum medication will be used to treat dystonia rather than surgery, particularly in the case of children and young people.

Each type of treatment is discussed in more detail below. You can also see a summary of the pros and cons of dystonia treatments, which allows you to easily compare your options.

Botulinum toxin

Since being introduced into clinical practice in the late 1980s, botulinum toxin has become an effective and widely used form of treatment for a number of different neurological conditions that involve abnormal muscle contractions, such as dystonia.

It’s given by injection directly into the affected muscles and works by blocking the neurotransmitters responsible for muscle spasms reaching the affected muscles.

The effects of the injection usually last two to three months, after which time you’ll need another injection. The site of the injection may feel painful for a few days, but this should soon pass.

Other side effects of botulinum toxin will depend on which part of your body is injected. For example, injections:

  • in the neck area may cause swallowing difficulties (dysphagia)
  • around the eyes may lead to drooping of the eyes and double vision
  • in the vocal cord may cause your voice to become soft and “breathy”

These types of side effects should pass after about a week.

Medication

There are a number of different medications that can be used to treat dystonia. 

Anticholinergics

Anticholinergics are a type of medication that can be used to effectively treat all types of dystonia.

However, they’re mainly used to treat generalised dystonia, because botulinum toxin now tends to be used to treat focal dystonia and segmental dystonia (see below).

Anticholinergics work by blocking the release of a neurotransmitter called acetylcholine, known to cause muscle spasms in some cases of dystonia. Trihexyphenidyl and procyclidine are two examples of anticholinergics. 

Side effects of anticholinergics include:

Baclofen

Baclofen is a medication that’s sometimes used to treat spasticity (excessive muscular tension) caused by stroke or multiple sclerosis. However, it’s also helps in treating people with dystonia.

In particular, daily doses of baclofen are effective in treating people with segmental and generalised dystonia, as well as those with oromandibular dystonia.

Common side effects of Baclofen include:

  • kidney problems  seek medical advice if you develop symptoms such as sleepiness or lethargy (lack of energy)
  • nausea  this may be reduced by taking Baclofen with food or milk
  • drowsinesss
  • balance and co-ordination problems
  • confusion

Muscle relaxants

Muscle relaxants are sometimes used to treat cases of dystonia that fail to respond to other types of medication. They work by increasing the levels of a neurotransmitter called gamma-aminobutyric acid (GABA), which helps to relax affected muscles.

Diazepam, lorazepam and clonazepam are all types of muscle relaxants that may be used to treat dystonia.

Depending on the pattern of your symptoms, muscle relaxants can be given by injection (intravenously) or in tablet form (orally). Side effects of muscle relaxants include:

  • drowsiness
  • tiredness
  • muscle weakness
  • dizziness
  • impaired co-ordination

These side effects should be temporary and disappear once your body gets used to the medication. If you have symptoms of dizziness, avoid driving and operating heavy machinery.

Don’t suddenly stop taking muscle relaxants. If you do, you’ll experience withdrawal symptoms such as anxiety, sweating or tremors (shaking).

If your care team decides you should stop taking muscle relaxants, your dose will gradually be reduced.

Physiotherapy

Physiotherapy uses specific exercises to help you maintain a full range of motion, improve your posture and prevent the shortening or weakening of affected muscles.

Some people with dystonia find their symptoms improve by simply touching the affected body part or a nearby area. This is known as a “sensory trick” or “geste antagoniste”.

For example, people with cervical dystonia (where the neck muscles spasm and tighten) often find their symptoms improve by touching the back of their head or the side of their face.

Read more about physiotherapy.

Pain management

Many people with certain types of dystonia experience pain, caused by spasms or repeated twisting of joints. You may be referred to a pain management programme to help with managing chronic pain.

Read about how to get NHS help for your pain.

Speech and language therapy

You may be referred to a speech and language therapist for certain types of dystonia, such as laryngeal dystonia, which causes difficulty speaking.

Watch a video about speech and language therapy.

Surgery

Surgery may be recommended if your dystonia symptoms don’t respond to botulinum toxin, medication or physiotherapy.

Deep brain stimulation (DBS)

Deep brain stimulation (DBS) is a type of brain surgery used to treat dystonia. During surgery, two small holes will be drilled into your skull.

The surgeon will pass electrodes through each hole and position them in a part of the basal ganglia called the globus pallidus. The basal ganglia is part of the brain that affects muscle movement.

The electrodes will be connected to a small pulse generator that’s similar to a pacemaker. It will be implanted under your skin, usually on your chest or lower abdomen.

The pulse generator sends signals to the globus pallidus. This alters nerve impulses produced by the basal ganglia and improves the symptoms of dystonia.

The most common complication of DBS is that either the pulse generator stops working or the electrodes become displaced, which may require further surgery to correct.

DBS is a relatively new technique, so there’s little information regarding its long-term safety or effectiveness. Therefore, before deciding to have DBS, you should discuss the risks and benefits of the treatment with your surgical team.

If you have DBS, you’re likely to need a series of follow-up appointments. This is because in most cases the signals produced by the pulse generator need to be adjusted to ensure your symptoms are being properly controlled.

It may be several weeks or months before you begin to feel the benefit of DBS. The benefit should continue to increase for a few years following surgery.

Selective peripheral denervation

Selective peripheral denervation is a type of surgery used to treat cervical dystonia. However, these days it only tends to be used in a few, select cases.

During the procedure, the surgeon will make an incision in your neck, before cutting some of the nerves connected to muscles prone to spams.

The surgery will be carried out under general anaesthetic, which means you’ll be unconscious throughout the procedure and unable to feel pain or discomfort.

After the procedure, you’ll lose some feeling in your neck because the nerves have been disconnected.

Selective peripheral denervation is generally a safe type of surgery and complications are rare. However, possible complications include:

  • infection in the neck
  • short-term swelling of the neck
  • a feeling of pins and needles in the neck
  • occasional short episodes of neck pain