How is Dystonia Diagnosed?

Diagnosis

While there is no definitive test to diagnose dystonia, NewYork-Presbyterian physicians will perform a thorough physical examination and neurologic assessment to determine what symptoms are present and when and how they occur. Doctors may also order:

  • Magnetic resonance imaging (MRI) to rule out other disorders that may be causing symptoms.
  • Genetic testing to look for dystonia mutations in individuals who experience dystonia early in life or who have a relative with dystonia.

How is Dystonia Treated?

Treatment

NewYork-Presbyterian provides comprehensive treatment for people with dystonia. The goal of therapy is to decrease muscle spasms, pain, and awkward postures, and improve your quality of life. Our doctors may try a number of different dystonia treatments or combinations of therapies before finding the approach that is most effective for you.

Medical treatment

Oral medications used to treat dystonia include drugs that alter the levels of certain brain chemicals that are important for normal movement. Examples include:

  • Acetylcholine blockers, such as trihexyphenidyl and benztropine
  • Drugs that regulate the neurotransmitter GABA, including diazepam, lorazepam, clonazepam, and baclofen
  • Drugs that influence the effects of dopamine, such as tetrabenazine and levodopa

Our neurologists also treat some patients with dystonia using botulinum toxin therapy (Botox®), a safe and effective treatment that relaxes affected muscles for several months and allows patients to maintain more normal posture and movement. We collaborate with members of the Department of Otorhinolaryngology (Ear, Nose, and Throat) to provide botulinum treatment for people with spasmodic dysphonia (dystonia affecting the voice).

Surgical treatment

Deep brain stimulation (DBS) has become an important tool in treating dystonia, especially for people in whom nonsurgical therapies are ineffective. NewYork-Presbyterian is one of the busiest and most prestigious centers offering this treatment. With DBS, neurosurgeons implant a device that acts like a pacemaker for the brain, reducing abnormal brain activity in dystonia and minimizing spasms. DBS also enables many patients to reduce their dependence on medications, which may cause unpleasant side effects over time.

Other surgical approaches may be performed to interrupt the nerve pathways responsible for the abnormal movements experienced by people with dystonia. The surgeon may intentionally damage the thalamus, globus pallidus, or other deep centers of the brain responsible for dystonia; cut the nerves leading to the nerve roots deep in the neck near the spinal cord; or remove nerves at the point where they enter contracting muscles (selective denervation surgery).

Rehabilitation

Physical, occupational, speech, and nutritional therapy can all be helpful to patients with dystonia. Special equipment can help patients communicate effectively and remain mobile while ensuring their safety. Rehabilitation specialists are available at NewYork-Presbyterian to:

  • Evaluate muscle strength and motor skills and develop an individualized program to maintain existing physical function
  • Recommend devices (including neck supports, canes, walkers, and wheelchairs) and equipment for the home to help ensure patients’ safety and mobility
  • Discuss ways to modify activities, conserve energy, and simplify work

Some people with dystonia find that complementary therapies (such as yoga, meditation, Pilates, biofeedback, and acupuncture) are also helpful in relieving their symptoms.

Clinical trials and research

Investigators at Columbia University and Weill Cornell Medicine are conducting basic science and clinical research to learn more about the causes of dystonia and find new and more effective ways to diagnose and treat it. You may have an opportunity to participate in a clinical trial of a promising new therapy.

FAQs

FAQs

Yes, certain medications can cause acute dystonia. Examples include antipsychotic, antiemetic (nausea-preventing), and antidepressant drugs.

Some forms of dystonia are genetic, caused by mutations in a family of genes called DYT. Examples include DYT1, DYT5, and DYT6 mutations, which may be inherited. Not everyone who inherits a defective gene will develop dystonia, however.

Yes, children can develop dystonia, and in this case, it is considered early-onset dystonia. Pediatric dystonia often begins with symptoms in the arms or legs and may spread to other parts of the body. Symptoms may occur after periods of physical activity and come and go throughout the day. Childhood-onset dystonia occurs between birth and age 12, while adolescent dystonia afflicts people ages 13 to 20.

Get Care

Trust NewYork-Presbyterian for Dystonia Treatment

NewYork-Presbyterian is known around the world for expert neurology and neurosurgical care. We perform a comprehensive examination to assess your symptoms, determine their cause, and match you with the most effective therapies for improving your quality of life. Contact us today to make an appointment to see one of our dystonia specialists.