Dystonias

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

acute dystonic reactions

1st line – diphenhydramine or benztropine

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1st line –

diphenhydramine or benztropine

Acute onset of dystonia is rare and, in most cases, is due to exposure to antidopaminergic agents. Initial evaluation in the emergent setting should include assessment of the airway.[45] If exposure to antidopaminergic agents is confirmed, give intravenous diphenhydramine or benztropine and repeat if no effect is seen.

Some patients with poorly controlled generalized dystonia may develop acute worsening of their dystonia, which can be severe and life-threatening.

If you suspect overlapping neuroleptic malignant syndrome, malignant hyperthermia, serotonin syndrome, or other acute infectious, metabolic, or toxic derangement as a cause for the acute worsening, treatment should be directed at these underlying etiologies. See Neuroleptic malignant syndrome (Management approach); Malignant hyperthermia (Management approach); Serotonin syndrome (Management approach).

Primary options

diphenhydramine: 50 mg intravenously as a single dose, may repeat in 20-30 minutes if necessary

benztropine: 2 mg intravenously as a single dose

ONGOING

generalized dystonia

1st line – levodopa

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1st line –

levodopa

It is important to establish whether patients with generalized dystonia are responsive to dopaminergic therapy. A therapeutic trial of levodopa with a decarboxylase inhibitor (carbidopa) should be given, which will determine whether the patient has dopa-responsive dystonia (DRD).[37] Responsiveness should be apparent within a few days to weeks.[38][46] DRD typically presents in childhood (DRD may comprise 5% to 10% of childhood-onset dystonia), but adults may also respond to treatment.[3]

Primary options

carbidopa/levodopa: children: consult specialist for guidance on dose; adults: 25/100 mg orally (immediate-release) three times daily initially, increase dose gradually according to response

Plus – physical therapy

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Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – antispasmodic

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Consider –

antispasmodic

Treatment recommended for SOME patients in selected patient group

Oral baclofen has demonstrated efficacy in improving gait in some patients with TOR1A (also known as DYT1) mutations, although no randomized controlled trials investigating its use exist.[49]

Clonazepam or zonisamide may also be helpful, particularly for myoclonic dystonia.[48][50]

Intrathecal baclofen has been proposed for use in cases of acquired dystonia when accompanied by spasticity, and may also be considered in children when dystonia is accompanied by cerebral palsy.[51][52]

Primary options

baclofen: children: 2.5 mg/day orally initially, increase by 2.5 mg/dose increments every 3 days according to response, maximum 30 mg/day given in 3 divided doses; adults: 5 mg orally three times daily initially, increase by 5 mg/dose increments every 3 days according to response, maximum 80 mg/day

clonazepam: children: consult specialist for guidance on dose; adults: 0.5 mg/day orally initially, increase by 0.5 mg/dose increments according to response, maximum 4 mg/day

zonisamide: children and adults: consult specialist for guidance on dose

Secondary options

baclofen intrathecal: children and adults: consult specialist for guidance on dose

Consider – treatment of underlying disease

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Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with acquired dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

2nd line – trihexyphenidyl

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2nd line –

trihexyphenidyl

If the dystonia does not improve with levodopa given for at least 4 weeks, the mainstay of oral symptomatic therapy consists of anticholinergic therapy.

Trihexyphenidyl was shown in a double-blind, randomized, placebo-controlled study to produce a 50% improvement in dystonia ratings.[47]

Anticholinergics in general are thought to be more effective in children than in adults, although this may be the result of higher doses being tolerated more easily by children.[48]

Primary options

trihexyphenidyl: children: consult specialist for guidance on dose; adults: 1-2 mg/day orally initially, increase according to response, maximum 15 mg/day given in 3-4 divided doses

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – antispasmodic

Back

Consider –

antispasmodic

Treatment recommended for SOME patients in selected patient group

Oral baclofen has demonstrated efficacy in improving gait in some patients with TOR1A (also known as DYT1) mutations, although no randomized controlled trials investigating its use exist.[49]

Clonazepam or zonisamide may also be helpful, particularly for myoclonic dystonia.[48][50]

Intrathecal baclofen has been proposed for use in cases of secondary dystonia when accompanied by spasticity, and may also be considered in children when dystonia is accompanied by cerebral palsy.[51][52]

Primary options

clonazepam: children: consult specialist for guidance on dose; adults: 0.5 mg/day orally initially, increase by 0.5 mg/dose increments according to response, maximum 4 mg/day

zonisamide: children and adults: consult specialist for guidance on dose

Secondary options

baclofen intrathecal: children and adults: consult specialist for guidance on dose

Consider – treatment of underlying disease

Back

Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with acquired dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

3rd line – deep brain stimulation (DBS)

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3rd line –

deep brain stimulation (DBS)

DBS of the internal globus pallidus is only used in patients who are refractory to medication. Referral to a neurosurgery center experienced in DBS implantation in dystonia is strongly recommended, especially in the case of children, for whom early referral may be a factor in a successful outcome.[70]

One Cochrane review found that DBS may improve functional capacity and reduce symptom severity in adults with cervical, segmental, or generalized moderate to severe dystonia, and may improve quality of life in adults with generalized or segmental dystonia, although the evidence was of low quality.[63]

Although data are equivocal, there are several case series indicating that primary dystonias may be more likely than secondary dystonias to respond to a clinically meaningful degree, with the exception of tardive dystonias, which appear to respond very well to DBS of the internal globus pallidus.[67][68]

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

focal dystonia: other than adult isolated foot

1st line – botulinum toxin

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1st line –

botulinum toxin

Most focal dystonias in adults and children do not respond to oral medications such as trihexyphenidyl and levodopa so botulinum toxin is usually the first line treatment.[39] A number of randomized, placebo-controlled trials for various movement disorders have demonstrated efficacy of botulinum toxin in reducing the severity of the dystonia as well as pain and disability, and in improving quality of life measures.[55][56] The best evidence exists for cervical dystonia.[57][58][59][60] [ ] One Cochrane review found a significant and clinically relevant reduction in cervical dystonia-specific impairment and pain following a single treatment session of botulinum toxin type A.[60]

Botulinum toxin dosing depends upon the size of the muscle being injected and the serotype used (type A or type B).[61] Type A is available in the US as onabotulinumtoxinA, abobotulinumtoxinA, or incobotulinumtoxinA. Type B is available in the US as rimabotulinumtoxinB.

Referral to a neurologist experienced in movement disorders and injection of botulinum toxin is strongly recommended when considering this treatment for cervical dystonia, blepharospasm, spasmodic dysphonia, writer's cramp, or focal lower limb dystonia.

Primary options

onabotulinumtoxinA: consult specialist for guidance on dose

abobotulinumtoxinA: consult specialist for guidance on dose

incobotulinumtoxinA: consult specialist for guidance on dose

rimabotulinumtoxinB: consult specialist for guidance on dose

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – transcutaneous electrical nerve stimulation

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Consider –

transcutaneous electrical nerve stimulation

Treatment recommended for SOME patients in selected patient group

Transcutaneous electrical nerve stimulation (TENS) has shown to be helpful for writer's cramp.[62]

Consider – treatment of underlying disease

Back

Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with acquired dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

Consider – speech therapy

Back

Consider –

speech therapy

Treatment recommended for SOME patients in selected patient group

Speech therapy may be helpful as an adjunct to botulinum toxin for laryngeal dystonia.[62]

2nd line – deep brain stimulation (DBS)

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2nd line –

deep brain stimulation (DBS)

DBS is approved by the US Food and Drug Administration under a humanitarian device exemption for treatment of primary generalized, segmental, cervical dystonia, or hemidystonia. DBS is thought to restore abnormal firing rates and patterns in the main outflow nucleus from the basal ganglia to the motor cortex. One Cochrane review found that DBS may improve functional capacity and reduce symptom severity in adults with cervical, segmental, or generalized moderate to severe dystonia, and may improve quality of life in adults with generalized or segmental dystonia, although the evidence was of very low quality.[63]

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

adult isolated foot dystonia

1st line – levodopa

Back

1st line –

levodopa

Focal dystonias are often poorly responsive to oral medications. However, a trial of levodopa is suggested in adult isolated foot dystonia, especially if subtle signs of parkinsonism are present.

Primary options

carbidopa/levodopa: adults: 25/100 mg orally (immediate-release) three times daily initially, increase dose gradually according to response

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – treatment of underlying disease

Back

Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with acquired dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

2nd line – trihexyphenidyl

Back

2nd line –

trihexyphenidyl

Focal dystonias are often poorly responsive to oral medications. However, trihexyphenidyl may be tried to a maximum tolerated dose.

Primary options

trihexyphenidyl: adults: 1-2 mg/day orally initially, increase according to response, maximum 15 mg/day given in 3-4 divided doses

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – treatment of underlying disease

Back

Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with secondary dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

3rd line – botulinum toxin

Back

3rd line –

botulinum toxin

Many of the focal dystonias respond well to botulinum toxin with reduction of dystonia severity and pain and disability scores.

Referral to a neurologist experienced in movement disorders and injection of botulinum toxin is strongly recommended when considering this treatment for focal lower limb dystonia.

Primary options

onabotulinumtoxinA: consult specialist for guidance on dose

abobotulinumtoxinA: consult specialist for guidance on dose

incobotulinumtoxinA: consult specialist for guidance on dose

rimabotulinumtoxinB: consult specialist for guidance on dose

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

Consider – treatment of underlying disease

Back

Consider –

treatment of underlying disease

Treatment recommended for SOME patients in selected patient group

Patients with acquired dystonia (e.g., Wilson disease, Parkinson disease) and a treatable underlying cause should receive appropriate disease-specific treatment.

4th line – deep brain stimulation (DBS)

Back

4th line –

deep brain stimulation (DBS)

DBS is only used in patients who are refractory to medication. Subthalamic nucleus DBS has shown some benefit in patients with toe dystonia related to Parkinson disease.[64] Referral to a neurosurgery center experienced in DBS implantation in dystonia is strongly recommended.

Plus – physical therapy

Back

Plus –

physical therapy

Treatment recommended for ALL patients in selected patient group

Regular physical therapy, bracing, and stretching are recommended to alleviate pain and prevent contractures.[37]

Stretching exercises are best provided by a physical therapist.

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Dystonias

Treatment algorithm

acute dystonic reactions

diphenhydramine or benztropine

Primary options

generalized dystonia

levodopa

Primary options

physical therapy

antispasmodic

Primary options

Secondary options

treatment of underlying disease

trihexyphenidyl

Primary options

physical therapy

antispasmodic

Primary options

Secondary options

treatment of underlying disease

deep brain stimulation (DBS)

physical therapy

focal dystonia: other than adult isolated foot

botulinum toxin

Primary options

physical therapy

transcutaneous electrical nerve stimulation

treatment of underlying disease

speech therapy

deep brain stimulation (DBS)

physical therapy

adult isolated foot dystonia

levodopa

Primary options

physical therapy

treatment of underlying disease

trihexyphenidyl

Primary options

physical therapy

treatment of underlying disease

botulinum toxin

Primary options

physical therapy

treatment of underlying disease

deep brain stimulation (DBS)

physical therapy