Dystonia: Symptoms, Diagnosis & Treatment

This information is useful for children, adults, and older adults
man looking thoughtful, possibly thinking about dystonia diagnosis

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Unless you are engaged in an activity that requires conscious movement—like physical therapy or learning a new dance move—you probably don’t spend much time thinking about how to control your muscles. That’s because your brain and nervous system are working smoothly together—but, though it is unusual, problems sometimes arise. Dystonia is a neurological movement disorder that results in unwanted muscle contractions or spasms. The involuntary twisting, repetitive motions, or abnormal postures associated with dystonia can affect anyone at any age. The movements can be slow or fast, range from mild to debilitating and happen predictably or randomly. An estimated 300,000 people in North America have dystonia, according to the National Organization for Rare Disorders. 

Dystonia is a multi-faceted, complex disorder. Different subtypes affect areas across the body, and its symptoms can vary significantly from person to person. In its early stages and in milder forms, dystonia might register as an annoyance. For example, dystonia that affects only the vocal cords may mean a person has to make an extra effort to talk. But other forms of dystonia can interfere with a person’s ability to walk or eat and are severe enough to require surgery.

Adding a layer of complexity to the condition, researchers are unsure of its cause. Dystonia can develop in multiple ways, ranging from genetic mutations or as a side effect of a medication. It can be a symptom of another disease, like Huntington’s or Parkinson’s diseases. In many cases, dystonia emerges for unknown reasons.  

While the disorder has no cure, some forms of it can be well-managed through personalized treatment plans that may include medication, botulinum toxin injections, or deep brain stimulation (DBS) surgery.

At Yale Medicine, a team of expert neurologists and neurosurgeons work together to find solutions for each patient. Your doctor will perform a detailed interview and examination to understand your symptoms and how best to help you. “One goal will be to identify the underlying cause of your dystonia and any treatments,” says Yale Medicine neurologist Christine Kim, MD. “An equally important goal will be the development of a treatment plan for your symptoms that will be carefully tailored to your individual needs by a doctor with extensive experience in the treatment of dystonia. This may involve trying oral medications, botulinum toxin injections, or considering DBS surgery in appropriate cases. Treatment often involves a combination of approaches.”