eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases
Primary Torsion Dystonia: Treatment & Medication
Updated: Mar 30, 2007
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Medical Care
Therapy for most people with dystonia is symptomatic, directed at controlling the intensity of the dystonic contractions.
- Although no curative treatment for dystonia is available, secondary forms of dystonia, such as Wilson disease and DRD, can be treated with specific therapy, which may help reverse symptoms.
- Early diagnosis and start of treatment for dystonia, though not proven to alter its course or increase the likelihood for remission, may improve quality of life and alleviate the disability of patients with dystonia.
- Available therapies for dystonia include oral medications, intramuscular or subcutaneous botulinum toxin injections, surgical procedures, and physical and/or rehabilitation therapies.
- Overall, about 40% of patients improve with oral therapy. Adverse effects of the particular agents used can limit the benefits.
- Overall, the goals of therapy should be directed at increasing movement, alleviating pain, preventing contractures, restoring functional abilities, and minimizing adverse effects from medical therapy.
Surgical Care
Surgical care is reserved for patients with severe symptoms in whom drug therapy fails. In general, it should be considered in patients with generalized dystonia because these patients are severely affected, because their condition is most likely to be refractory to therapy, or because they have unfavorable responses to medical therapy primarily due to adverse effects related to their need for increasing doses or to drug interactions from polypharmacy. Careful patient selection is one of the most important aspects of ensuring a successful surgical outcome.
- Thalamotomy was originally the preferred surgery for dystonia. However, dystonic symptoms associated with Parkinson disease have remarkably improved after pallidotomy or pallidal deep brain stimulation (DBS). Bilateral pallidotomy surgery may be associated with uncontrollable adverse effects, and initial improvement of symptoms may not be sustained.
- Given the development of high-frequency stimulation instead of inducing lesions, surgical procedures have become safer and adverse effects are easier to control than before. As the disease progresses, stimulation may be varied (Krause, 2004).
- Over the past few years, DBS of the globus pallidus interna (GPI) has gained widespread acceptance as an effective treatment for primary generalized dystonia (Tronnier, 2000; Vercueil, 2001; Coubes, 2004)
- In a 2-year follow-up study, Coubes et al (2004) found that GPI DBS was efficient in most cases of primary dystonia, whatever the topography of the symptoms (ranging from spasmodic torticollis to generalized dystonia).
- In a 3-year follow up study by Krause et al (2004), patients with primary generalized dystonia benefited from GPI stimulation, though in 1 patient had secondary worsening of symptoms approximately 3 years after DBS implantation.
- GPI DBS is becoming popular in patients with primary dystonia because of its effectiveness and safety. It can be proposed at the initial phase of the disease to limit the functional consequences and to improve the prognosis for functional recovery. The consensus is that the secondary forms are less responsive than primary forms, yet responses in secondary forms do occur (Bakay, 2004).
- At present, although the GPI is the most common target for dystonia, other targets used in the past, included pallidal and nigral outflow or the thalamus, should also be considered (Lozano, 2004).
- Selective peripheral denervation with partial rhizotomy performed by an experienced surgeon may have a role in cervical dystonia that does not respond to other therapies (Bertrand, 1988).
- Myectomy may be beneficial for blepharospasm and minimally effective for cervical dystonia. Problems include weakness and disfigurement.
Medication
The goals of pharmacotherapy are to reduce morbidity and prevent complications.
Anticholinergics
In general, these are the most successful medications for oral therapy for most forms of dystonia. This family of drugs includes trihexyphenidyl (Artane), benztropine (Cogentin), procyclidine (Kemadrin), diphenhydramine (Benadryl), and ethopropazine (Parsidol). Approximately 40% of patients improve, though adverse effects often limit the benefits. Slow uptitration helps to reduce the occurrence of early adverse effects.
High doses of up to 120 mg/day have been used to achieve maximal benefit. In general, the dose is increased slowly in 3 or 4 divided doses until adverse effects limit further increases.
Trihexyphenidyl (Artane, Benzhexol hydrochloride)
Benefits often delayed by several wk; patients must take for several wk before full benefits appear. Trial may take as long as 3 mo.
Adult
Starting dose: 2.5 mg/d PO; increase weekly to tid/qid until benefit achieved or adverse effects appear; adults rarely tolerate high doses
Maintenance dose: 5-15 mg/d PO divided tid/qid
Pediatric
100-120 mg/d PO is maximum tolerated dose
Amantadine may increase anticholinergic adverse effects (disappear when dose reduced); may decrease serum concentrations of haloperidol, worsening schizophrenic symptoms; may reduce pharmacologic or therapeutic actions of phenothiazines
Documented hypersensitivity; acute narrow-angle glaucoma; pyloric or duodenal obstruction; stenosing peptic ulcers; bladder-neck obstruction; achalasia; myasthenia gravis; relative contraindications are dementia, memory impairment, and urinary hesitancy
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Adverse effects include blurred vision, constipation, dry mouth, urinary retention, short-term memory loss, confusion, psychosis, restlessness, insomnia, nightmares, hallucinations, and heat intolerance; rapid decrease in dose may precipitate cholinergic symptoms, including nausea, diarrhea, and bradycardia; dose adjustment may be required in elderly patients; caution in tachycardia, cardiac hypotension, prostatic hypertrophy, arrhythmias, hypertension; caution in any tendency to urinary retention, liver or kidney disorders, or obstructive disease of GI or GU tract; if dry mouth severe and impairs swallowing or speaking or if loss of appetite and weight occurs, reduce dosage or temporarily discontinue
Muscle relaxants
The most commonly used muscle relaxant in dystonia is baclofen, but other muscle relaxants include tizanidine (Zanaflex) and cyclobenzaprine (Flexeril), with limited benefits reported in some patients. Adverse effects are common and include sedation and dysphoria.
Baclofen (Lioresal)
Derivative of gamma-aminobutyric acid (GABA) that reduces spinal-cord interneuron and motor neuron excitability, possibly by activating presynaptic GABA-B receptor by L-isomer. Effective in about 20% of patients. Appears to offer dramatic benefit in as many as 30% of children with dystonia, though not always sustained. Adults less likely than children to benefit.
Intrathecal baclofen infusion given with implanted refillable pump of some benefit in secondary dystonia, especially with spasticity (Ford, 1996). Patients with primary dystonia also may benefit. Before implantation, trial of intrathecal series of bolus infusions during lumbar puncture (LP) usually performed.
Adult
Standard dose varies, successful therapeutic range 40-120 mg/d PO divided tid/qid; to achieve therapeutic levels without adverse effects, gradually increase by 2.5-5 mg/wk
Intrathecal administration: Test dosing during LP usually carried out on 3 consecutive days by using infusions of 50, 75, and 100 mcg; some patients with dystonia respond to high doses, but risk of CNS depression and respiratory arrest increases with dose; after pump implantation, pump rate usually adjusted to deliver successful trial dose over 24 h and increased by 10-15% q2d until maximum response achieved (Bressman, 2000)
Pediatric
10-20 mg/d PO
May exacerbate lethargy produced by CNS depressants or dry mouth produced by anticholinergics; may increase blood glucose levels, requiring adjustments of antidiabetic medications; may cause additive sedation with psychotropics; may potentiate hypotensive effects of monoamine oxidase inhibitors (MAOIs)
Documented hypersensitivity
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Main adverse effects are lethargy, upset stomach, dizziness, dry mouth, urinary urgency or hesitation; confusion, hallucinosis, and paranoia rare; rapid decrease in dose may precipitate psychosis or seizures; adjust dose in renal impairment; avoid abrupt withdrawal in elderly patients; caution in patients with history of autonomic dysreflexia and when spasticity used to increase function; withdrawal can cause autonomic dysreflexia
Benzodiazepines
Lorazepam and clonazepam (Klonopin) may be used. They should be uptitrated slowly and decreased gradually, as abrupt cessation may lead to withdrawal symptoms.
Clonazepam (Klonopin)
Suppresses muscle contractions by facilitating inhibitory GABA neurotransmission and other inhibitory transmitters.
Adult
1-8 mg/d PO
Pediatric
Not established
Phenytoin and barbiturates may reduce effects; CNS depressants increase toxicity
Documented hypersensitivity; severe liver disease; acute narrow-angle glaucoma
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Sedation and ataxia are limiting adverse effects for most patients; some patients have irritability, confusion, psychosis, or depression at high doses; withdrawal symptoms, including worsening of dystonia, if doses lowered suddenly
Dopaminergic medications
Levodopa is the first drug that many specialists in dystonia prescribe. The dopa-responsive form of dystonia shows a dramatic response to levodopa. Levodopa has minimal adverse effects (eg, nausea) and can be administered for an indefinite time. Rapid discontinuation is possible. Other dopamine agonists, such as pramipexole (Mirapex) may also be tried.
Carbidopa/levodopa is a valuable diagnostic and therapeutic tool for DRD; when administered in gradually increasing doses, it is well tolerated in children.
Carbidopa/levodopa (Sinemet)
Large neutral amino acid absorbed in proximal small intestine by saturable carrier-mediated transport system. Meals that include other large neutral amino acids decrease absorption. Only patients with meaningful motor fluctuations need consider low-protein or protein-redistributed diet. Increased consistency of absorption achieved when levodopa taken 1 h after meals. Nausea often reduced if levodopa taken immediately after meals; some patients with nausea benefit from additional carbidopa in doses up to 200 mg/d.
Half-life of levodopa/carbidopa approximately 2 h.
Provide at least 70-100 mg/d of carbidopa. When more carbidopa required, substitute 1 25-mg/100-mg tab for each 10-mg/100-mg tab. When more levodopa required, substitute 25-mg/250-mg tab for 25-mg/100-mg or 10-mg/100-mg tab.
Slow-release (SR) formulation absorbed more slowly and provides more sustained levodopa levels than immediate-release (IR) form. SR form as effective as IR form when levodopa initially required and may be more convenient when fewer intakes desired.
Adult
Starting dose: Half of 25-mg/100-mg tab PO qd; increase q5-7d by half tab in bid/tid schedule
DRD: Half to 1 tab PO bid/tid
Non-DRD dystonia: 25-mg/250-mg PO tid
Pediatric
Not established
Hydantoins, pyridoxine, phenothiazine, and hypotensive agents may decrease effects; antacids and MAOIs increase toxicity
Documented hypersensitivity; narrow-angle glaucoma; malignant melanoma; undiagnosed skin lesions
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Most common acute adverse effects are nausea, hypotension, and hallucinations. Long-term adverse effects include motor fluctuations and dyskinesia (eg, chorea); certain adverse CNS effects (eg, dyskinesias) may occur at low dosages and early in therapy with SR form; caution in patients with history of myocardial infarction, arrhythmias, asthma, or peptic ulcer disease; sudden discontinuation may cause worsening of Parkinson disease; high-protein diets should be distributed throughout day to avoid fluctuations in levodopa absorption
Antidopaminergic medications
The usefulness of these agents in primary dystonia is controversial. Some small controlled studies have shown a benefit, whereas others have not. Percentages of patients who benefitted in large, open-label studies were 11-30%.
The risk of developing permanent involuntary movements (ie, tardive syndromes) superimposed on preexisting dystonia limits the long-term use of most dopamine receptor blockers. Because of the risk of permanent tardive syndromes, typical neuroleptics should not be used to treat dystonia except in extremely severe cases.
Dopamine depleters, such as reserpine and tetrabenazine, are especially useful in the treatment of tardive dystonia. Neither tetrabenazine nor reserpine is convincingly implicated as the cause of tardive syndromes.
Atypical neuroleptics, such as clozapine, have been used to treat tardive dystonia. Initial data on the use of these agents in treating primary dystonia are not promising.
For severe dystonia in children, a combination of an anticholinergic, a dopamine depleter, and a dopamine receptor blocker called the Marsden cocktail, is reported to be of benefit. However, treatment with dopamine receptor blocker may cause involuntary movements (eg, dyskinesia, akathisia, dystonia) that may persist after the agent is stopped and may be permanent.
Tetrabenazine
Dopamine depleter/receptor blocker not available in United States but preferred over reserpine because, unlike reserpine, adverse effects and maximal benefits usually seen in <2 wk.
Adult
Starting dose: 12.5 mg PO qd/bid; increase slowly
Maintenance dose: 25-400 mg/d; mean effective dose in author's center is 100 mg/d
Pediatric
Not established
Inhibits actions of most dopaminergic medications, including vasoconstrictive effects of high-dose dopamine; may potentiate hypotensive effects of antihypertensive medications
Documented hypersensitivity; Parkinson symptoms and depression, which may be exacerbated
Pregnancy
Precautions
Adverse effects include sedation, apathy, nausea, orthostatic hypotension, insomnia, acute (reversible) dystonic reactions, acute (reversible) restlessness (known as akathisia), and confusion (can be reversed with dose reduction or discontinuation); depression uncommon but can be severe and life threatening if not recognized and treated (usually with dose reduction); drug-induced parkinsonism often limiting factor in treating patients who seem to benefit from antidopaminergic agents; parkinsonism reversible and dose dependent and can be controlled with dose reduction
Toxoids
Botulinum toxins are the most effective way to treat focal dystonia. The benefit from botulinum toxin A was proven in controlled trials for several focal dystonias: blepharospasm, torticollis, spasmodic dysphonia, and brachial dystonia.
Botulinum toxin B (Myobloc) is a sterile liquid formulation of purified neurotoxin that acts at neuromuscular junctions to produce flaccid paralysis by inhibiting acetylcholine release. It specifically cleaves synaptic vesicle-associated membrane protein (VAMP, also known as synaptobrevin), a component of the protein complex responsible for docking and fusion of synaptic vesicles to presynaptic membranes, a necessary step for neurotransmitter release. The most commonly reported adverse events are dry mouth, dysphagia, dyspepsia, and pain at the injection site.
Botulinum toxin A (Botox)
Potent neurotoxin that prevents release of acetylcholine at neuromuscular junction by specific action on proteins responsible for fusion of acetylcholine-containing vesicles with presynaptic membrane. Injected into affected muscle, producing temporary muscle weakness and atrophy. Seven serotypes; at present, only serotypes A and B are commercially available. Effect not permanent. Onset of benefit usually within 3-7 d. Duration of benefit may be 3-6 mo.
Adult
Varies according to muscles involved and individual patient; use small doses initially and increase prn; mean doses for common dystonias as follows:
Spasmodic dysphonia: 1.5 U
Blepharospasm: 50 U
Oromandibular dystonia: 50 U
Cervical dystonia: 200 U
Limb injection doses vary from <5 U when small muscles involved to high doses when large muscles involved
Pediatric
Not established
Aminoglycosides or drugs that interfere with neuromuscular transmission may potentiate effects
Documented hypersensitivity
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Major adverse effects are weakness of noninjected muscles or weakness of noninjected muscles due to local spread of toxin (symptoms due depend on site of injection); with eyelid injection, ptosis and diplopia may occur, whereas dysphagia may occur after cervical or intraoral injections; systemic symptoms of malaise, upset stomach, muscle aches, and low-grade fever uncommon; may worsen symptoms of myasthenia gravis, Eaton-Lambert syndrome, and amyotrophic lateral sclerosis
Limitations of injections include inability to treat many muscles because of dose considerations; involvement of muscles inaccessible or unsafe to inject, eg, prevertebral muscles involved in anterocollis; adverse effects include excessive weakness and diffusion of toxin to uninvolved muscles
Botulinum Toxin Type B (Myobloc)
Paralyzes muscle by blocking neurotransmitter release. Cleaves synaptic vesicle association membrane protein (VAMP, synaptobrevin), component of protein complex responsible for docking and fusion of synaptic vesicle to presynaptic membrane (necessary step for neurotransmitter release).
Adult
Cervical dystonia: 2500-5000 U IM divided among affected muscles in patients treated previously with any type of botulinum toxin; use decreased dose in untreated patients
Pediatric
Not established
Aminoglycosides or drugs that interfere with neuromuscular transmission may potentiate effects
Documented hypersensitivity; coadministration of neuromuscular blockers; diseases of neuromuscular transmission; coagulopathy; uncooperative patient
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Caution if inflammation, excessive weakness, or atrophy at proposed injection site; may increase risk of dysphagia and respiratory complications; concurrent use with botulinum toxin type A or within 4 mo of type B administration not recommended; presence of antibodies to botulinum toxin type B may reduce effects of therapy (avoid high doses or frequent administration)
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| Differential Diagnoses & Workup: Primary Torsion Dystonia |
 Treatment & Medication: Primary Torsion Dystonia |
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Further Reading
Keywords
PTD, DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, Oppenheim's disease, primary torsion dystonia, idiopathic torsion dystonia, DYT1 gene
