Dystonia diagnosis & treatment

Dystonia is an unusual movement disorder that results in involuntary muscle movements (dyskinesia). These movements produce slow repetitive movements, tremors or unusual postures. Dystonia often begins slowly and can happen at any point in life. It can get progressively worse or plateau.

The movements from dystonia can affect the face, eyelids, neck, jaw, vocal cords, torso, hands, arms, feet or legs. Dystonia can look very different from person to person because it affects so many muscles in so many different ways.

Dystonia is often described based on the areas where symptoms occur. Some of the most common types of dystonia are:

• Generalized dystonia, which affects the torso and at least two other body parts
• Focal dystonia, which affects only a specific body part:
  • Cervical dystonia (also known as “spasmodic torticollis”), which affects the neck muscles and is the most common focal dystonia
  • Facial dystonia, which affects the muscles in your face
  • Blepharospasm, or dystonia of the eye
• Multifocal dystonia, which affects more than one unrelated body part
• Myoclonus dystonia, which affects only the upper part of the body
• Hemidystonia, which affects an arm and leg on the same side of the body
• Segmental dystonia, which affects two or more connected body parts such as the arm, neck and face

Causes of dystonia

Researchers aren’t sure what causes dystonia. They believe it’s caused by an abnormality or damage to parts of the brain that control movement. Dystonia may also be tied to problems with the way the brain processes neurotransmitters. Most of the time, imaging of the brain (such as MRI) shows no abnormalities in the brains of people who are affected by dystonia.

Researchers have identified several genes that are associated with dystonia, although a person can have one of those genes and not inherit dystonia. And family members who have dystonia may have a wide variety of symptoms.

Dystonia is also described based on the way it seems to have started.

• Idiopathic dystonia: When it has has no direct or clear cause. Most common.
• Genetic dystonia: Related to heredity or a defective gene.
• Acquired dystonia: Results from a variety of environmental causes like brain damage or taking certain medications.

Medication-induced dystonia is often referred to as tardive dystonia. Acquired dystonia may also result from neurodegenerative disorders like Parkinson's disease.

Diagnosing dystonia

There is no single test to diagnose dystonia. It’s a diagnosis of exclusion, which means your doctor will need to observe your potential dystonia symptoms carefully and rule out any other conditions that you might have. You may be referred to a neurologist specially trained in movement disorders like dystonia.

The steps in dystonia diagnosis may include:

• Health history, including family health history
• Physical exam to test nervous system functioning
• Blood, urine and cerebrospinal fluid tests
• Electromyography (EMG), electroencephalography (EEG) or magnetic resonance imaging (MRI)
• Genetic testing
• Other tests and screenings to rule out other conditions

From there, you’ll talk with your doctor about your dystonia diagnosis and discuss ways to improve your condition.

Your Aurora Heath Care team, which will include expert neurologists, will work with you to create a custom dystonia treatment plan that fits your needs.

Treatment for dystonia

Dystonia treatment options may include:

• Medications to calm muscle spasms, dystonic spasms and muscle twitching.
• Physical therapy to reduce muscle spasms.
• Surgery, which may include deep brain stimulation (DBS), a process in which surgeons implant a hair-thin electrode in the brain to help control body movements.