Dystonia

ConditionsDystonia

Dystonia refers to abnormal muscle postures or positioning, and can affect the entire body (generalized dystonia) or one body part (focal dystonia). Sometimes this is brought on by a specific action, such as writer’s cramp or musician’s dystonia (this is called task-specific dystonia).

Dystonia can also be associated with cramping and tremor (shaking) of the body part. Common types of focal dystonia include cervical dystonia (affecting the neck, causing head tilt or twist, head tremor, and often neck pain); blepharospasm (affects the eyelids, causing them to squeeze shut uncontrollably); hemifacial spasm (causing twitching of one side of the face).

Our specialists have extensive experience with both non-surgical and surgical treatment options. Non-surgical treatments include optimizing chemodenervation (botulinum toxin, Botox injections), using EMG guidance to pinpoint the exact muscles which are over-active, to reduce unwanted twisting, twitching, turning, and cramping. Our restorative neurosurgery program offers a frameless approach to deep brain stimulation (DBS) which improves customization and patient comfort during surgery for patients whose dystonia has not improved with medications or botulinum toxin injections.

Learn more about:

Cervical dystonia

Hemifacial spasm

Blepharospasm

  • Generalized dystonia causes twisting, turning and abnormal posturing in the whole body, often affecting children and young adults, mostly related to a genetic cause (most commonly DYT1 and DYT6 mutations). Children with generalized dystonia are developmentally normal but if left untreated, the dystonia can cause dramatic twisting and contortions resulting in inability to run, or even walk, inability to feed oneself, inability to dress oneself, slurred speech or trouble swallowing. Some children (and adults) with generalized dystonia may have a genetic cause of a biochemical lack of dopamine, called Segawa syndrome (with mutations in DYT5 gene). This is dramatically improved with a medication called levodopa (the same medication as used for Parkinson’s disease, Sinemet). Therefore, all patients with generalized dystonia (especially if it’s better in the morning and worse in the evening) should have a levodopa trial (a time period of a couple weeks where they take levodopa and monitor for improvement). This condition is also known as Dopa-responsive dystonia (DRD).
  • Craniocervical dystonia is a type of segmental dystonia affecting the head and neck. Patients may have blepharospasm (eyelid closure resulting in trouble keeping the eyes open), orofacial dystonia (twitching or spasms of the face around the mouth, tongue, jaw, cheeks, and/or cervical dystonia (pulling or twisting of the neck, often with head tremor). The combination of blepharospasm and facial dystonia is known as Meige syndrome. Craniocervical dystonia affects a wide range of ages, often beginning between the ages of 20 and 50.
  • Cervical dystonia affects the neck muscles only and is often misdiagnosed as musculoskeletal neck pain. When it causes tremor, it can sometimes be misdiagnosed as essential tremor. An exam conducted by one of our specialists can distinguish between the two and provide a correct diagnosis.
  • Spasmodic dysphonia, sometimes called laryngeal dystonia, affects the muscles of the vocal cords, causing the speech to sound strangled, strained or distorted.
  • Task-specific dystonias include writer’s cramp (finger or hand twisting brought on with writing) and musician’s dystonia, which can manifest as finger or hand twisting or abnormal postures when playing violin or guitar, or as oral dystonia when playing a brass or woodwind instrument.
  • Drug-induced dystonia, also known as tardive dystonia or tardive dyskinesia, occurs after months or years of neuroleptic use. Medications in this class may be used for psychiatric conditions such as depression, schizophrenia and bipolar disorder, or for gastrointestinal conditions such as nausea. These medications may include haloperidol (Haldol), risperidone (Risperdal), aripiprazole (Abilify), olanzapine (Zyprexa), prochlorperazine (Compazine), metoclopramide (Reglan), or lurasidone (Latuda), among others. Drug-induced dystonia is called “tardive” (like the word “tardy”) because it may take months or years of chronic use before the abnormal movement manifests. It may manifest as jaw, tongue or mouth movements or affect other parts of the body. These medications can also cause tremor and the appearance of parkinsonism. The movements may improve when the medication is stopped but can in many cases be permanent, unfortunately. Because the side effect is due to changes in the dopamine receptors in the brain after chronic use, stopping these medications abruptly may paradoxically make the movements worse. If you are using these medications for a psychiatric condition, we can work closely with your psychiatrist to adjust your regimen to improve the abnormal movements.

Dystonia is diagnosed based on the clinical exam by a skilled movement disorders neurologist. In many cases imaging is required to exclude a structural cause or blood tests, and sometimes urine tests are conducted to rule out other specific causes. In certain cases, especially in generalized dystonia, genetic testing may be done.

Oral medications given for treatment of dystonia include:

  • Muscle relaxants such as baclofen, tizanidine (Xanaflex), cyclobenzaprine (Flexeril)
  • Benzodiazepines such as diazepam (Valium) and clonazepam (Klonopin)
  • Anticholinergic medications such as trihexyphenidyl (Artane)

These medications can be effective for relaxing the abnormal postures or reducing abnormal involuntary movements but at high doses can cause sedation (sleepiness), fogginess, dizziness, imbalance and blurry vision. Artane can also cause dry mouth, constipation, confusion, depression and anxiety. These side effects often limit the effectiveness of the medication.

Other treatments include intrathecal baclofen, which means the baclofen is directly infused into the spinal fluid using a pump, reducing the cognitive side effects.

The mainstay of treatment of dystonia is botulinum toxin injections such as Botox and Xeomin. Botulinum toxin works to partially block the communication between the nerve and the muscle, thereby relaxing overly tight muscles. We utilize EMG (electromyography) guidance to target the most active fibers within the muscle. The procedure takes about 20-30 minutes and may be associated with pain and bruising but this is typically temporary. Botox takes 3-10 days to kick in and lasts 3-4 months, meaning that most patients return for repeat injection 3-4 times per year. Botox is covered by insurance for treatment of cervical dystonia, upper and lower limb spasticity, blepharospasm and hemifacial spasm.

Patients with dystonia who do not have adequate control of symptoms with oral medication and/or botulinum toxin injections may be a candidate for deep brain stimulation (DBS) surgery which can significantly improve the symptoms and signs of dystonia as well as improving quality of life.