Dystonia Basics

Dystonia is a brain disorder. There are several types. Dystonia causes uncontrollable body movements and postures. The brain sends chaotic signals to the muscles, telling the muscles to contract, even if the person does not want them too.

Dystonia is a neurological disorder that causes excessive, involuntary muscle contractions. These muscle contractions result in abnormal muscle movements and body postures, making it difficult for individuals to control their movements. The movements and postures may be painful. Dystonic movements are typically patterned and repetitive.

Dystonia can affect any region of the body including the eyelids, face, jaw, neck, vocal cords, torso, limbs, hands, and feet. Depending on the region of the body affected, dystonia may look quite different from person to person.

In addition involuntary movements and postures, depression and anxiety are frequent non-motor symptoms of dystonia.

Common Dystonia Symptoms

• Involuntary movements and pain in the neck
• Excessive blinking
• A breathy or strangled-sounding voice
• Slurred speech
• Hand cramps
• A twisted leg or foot

Signs of Dystonia

• A body part is flexed or twisted into an abnormal position.
• Repetitive and patterned body movements, which may resemble tremor.
• Dystonic symptoms may worsen or occur only with specific tasks. For example, hand dystonia may be present only when writing or playing a musical instrument.
• Attempting a movement task on one side of the body my activate dystonia symptoms on the opposite side.
• Dystonic movements and postures may be temporarily relieved by a gentle touch or specific action called a sensory trick.

How is Dystonia Diagnosed?

At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician’s ability to observe the symptoms and obtain a thorough patient history. Medical tests may be ordered to rule out other conditions or disorders.

The subspecialist who typically has the training to diagnose and treat dystonia is a movement disorder neurologist. Physical Medicine and Rehabilitation (PM&R) physicians, also known as physiatrists, also work with dystonia patients to help restore movement and manage physical symptoms. A dystonia patient’s treatment team may include physical, occupational, and speech therapists who assist with daily function, muscle stretching, and control. Some patients may be surgically treated. For example, a neurologist would work with a neurosurgeon to do deep brain stimulation (DBS).

The dystonia diagnostic process may include:

• Additional tests and screenings intended to rule out other conditions or disorders
• Patient history
• Family history
• Physical examination to assess functioning of the nervous system
• Observation of movement and gait (the way in which a person moves). For example, use of their hands, the tilt of the head or how they walk or run.
• Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid
• Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)
• Genetic testing for inherited forms of dystonia

Common Misdiagnoses

Dystonia symptoms should not be confused with:

• Tics
• Orthopedic conditions (for example, scoliosis and congenital torticollis)
• Muscle cramps
• Muscle contractures
• Essential tremor

Dystonia Vocabulary

Your healthcare providers may use unfamiliar language to talk about dystonia:

• Focal: Dystonia that affects a single body part, for example, the neck.
• Segmental: Dystonia that affects two or more connected body parts, for example the face, neck, and arm.
• Generalized: Dystonia that affects the torso and at least two other body areas, frequently the limbs.
• Isolated or Primary: Dystonia is the only neurological symptom a person appears to have.
• Acquired (Formerly Known as Secondary Dystonia): Dystonia that appears to have a specific cause such as drug reaction, brain injury, or as a symptom of another neurological or metabolic disorder.
• Paroxysmal Dyskinesias: Dystonia may occur in episodes, often with additional movement symptoms.
• Functional: Dystonia may occur as part of a functional neurological disorder.