Dystonia

Symptoms

• 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.