Dystonia is a neurological movement disorder in which muscles contract on their own, pulling parts of the body into twisting movements or fixed abnormal postures. The contractions can be sustained or come and go, they often get worse with voluntary movement, and they may cause a jerky tremor and pain. Dystonia can affect a single area, such as the neck (cervical dystonia) or the eyelids and jaw (Meige syndrome), or spread through the whole body (generalized dystonia).
Dystonia is not a muscle disease and it is not psychological. It comes from faulty signalling in the brain circuits that control movement, mainly the basal ganglia. There is no cure yet, but treatment works: botulinum toxin injections for focal forms, and deep brain stimulation (DBS) when injections and medicines are not enough. In a prospective multicenter study, DBS of the globus pallidus improved movement scores in primary generalized dystonia by 51% after one year,[1] and a sham-controlled randomized trial confirmed that the benefit comes from the stimulation itself.[2]
What does dystonia look like?
The international consensus definition describes dystonia as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both”.[3] In daily life this means:
- Twisting or pulling. The head turns or tilts, the trunk bends, a foot turns inward, a hand cramps while writing.
- Patterned movements. The same muscles pull in the same direction each time, which helps doctors tell dystonia apart from other movement disorders.
- Worse with action. Many patients are fine at rest and get worse when they walk, write, speak or try to hold a position.
- Dystonic tremor. An irregular, jerky shaking, often of the head. We cover it in depth on headtremor.com.
- Sensory tricks. Touching the chin, cheek or back of the head can briefly relax the muscles. Doctors call this a geste antagoniste, and it is typical of dystonia.
- Pain and fatigue. Constant contraction tires muscles. Pain is especially common in cervical dystonia.
Which parts of the body can dystonia affect?
Doctors describe dystonia by how much of the body is involved. See types of dystonia for the full classification.
| Form | Body involvement | Examples |
|---|---|---|
| Focal | One body region | Cervical dystonia, blepharospasm, writer’s cramp, spasmodic dysphonia |
| Segmental | Two or more neighbouring regions | Meige syndrome (eyes + jaw), neck + arm |
| Multifocal | Two or more regions that are not neighbours | Neck + leg |
| Generalized | Trunk and at least two other regions | Early-onset DYT1 (TOR1A) dystonia |
| Hemidystonia | One side of the body | After a stroke on the opposite side of the brain |
What causes dystonia?
Dystonia has three broad groups of causes. The distinction matters because it predicts how well DBS will work. We explain it on primary vs secondary dystonia.
- Idiopathic. No cause is found. This is the case for most adults with focal dystonia such as cervical dystonia or Meige syndrome.
- Inherited (genetic). A change in one gene, such as TOR1A (DYT1) or THAP1 (DYT6), causes the dystonia. See genetic dystonia and DBS.
- Acquired. Something damaged or disturbed the brain: birth injury (dystonic cerebral palsy), stroke, head injury, infection, or long-term use of certain psychiatric medicines (tardive dystonia).
How common is dystonia?
A meta-analysis of population studies estimated the prevalence of primary dystonia at about 16 per 100,000 people.[4] The authors note that this is likely an underestimate, because many people with mild focal dystonia are never diagnosed. Cervical dystonia is the most common focal form.
How is dystonia diagnosed?
Dystonia is a clinical diagnosis. A neurologist or movement-disorder specialist examines how you move and looks for patterned contractions, action-induced worsening and sensory tricks. Depending on the picture, tests may include:
- brain MRI, to look for structural causes;
- genetic testing, especially when dystonia starts before about age 30 or runs in the family;
- blood tests for treatable causes, such as copper metabolism (Wilson’s disease) in young patients;
- a supervised medication trial, to rule out dopa-responsive dystonia, which responds dramatically to medication and does not need surgery.
Many patients wait years for a correct diagnosis. If you recognise these symptoms, a short video of the movements is often enough for a specialist to give a first opinion. You can send us one.
How is dystonia treated?
Treatment follows the form and severity of dystonia. See dystonia treatment options for the full comparison.
- Physiotherapy and sensory retraining help posture and comfort at every stage.
- Oral medications can reduce symptoms, especially in children and in generalized dystonia, but side effects often limit the dose.
- Botulinum toxin injections are the first-line treatment for most focal dystonias, including cervical dystonia and blepharospasm.[5]
- Deep brain stimulation (DBS) is the most effective option when dystonia is disabling and these treatments are no longer enough. See DBS for dystonia.
Frequently asked questions
Is dystonia a serious disease?
Dystonia is not usually life-threatening, but it can be very disabling. Fixed postures, pain and difficulty speaking, eating or walking can affect work and social life. Good treatment exists, so getting a correct diagnosis matters.
Does dystonia get worse over time?
It depends on the type. Adult-onset focal dystonia often worsens over the first years and then stays stable. Early-onset genetic dystonia is more likely to spread to other body regions. Acquired dystonia follows its cause.
Can dystonia go away on its own?
Some patients with cervical dystonia have a period of improvement, but lasting complete remission is uncommon. Most people need ongoing treatment.
Is dystonia hereditary?
Sometimes. Several genes, such as TOR1A (DYT1) and THAP1 (DYT6), can cause dystonia and may be passed on. Most adults with focal dystonia have no identified genetic cause. See genetic dystonia.
Sources
- Vidailhet M, Vercueil L, Houeto JL, et al. Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. N Engl J Med. 2005;352(5):459–467. Source
- Kupsch A, Benecke R, Müller J, et al. Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med. 2006;355(19):1978–1990. doi:10.1056/NEJMoa063618 Source
- Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863–873. Source
- Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012;27(14):1789–1796. Source
- Simpson DM, Hallett M, Ashman EJ, et al. Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache. Neurology. 2016;86(19):1818–1826. Source
- Vidailhet M, Vercueil L, Houeto JL, et al. Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. Lancet Neurol. 2007;6(3):223–229. Source
- Volkmann J, Wolters A, Kupsch A, et al. Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial. Lancet Neurol. 2012;11(12):1029–1038. Source