Dystonia

What Is Dystonia?

Dystonia is a neurological movement disorder that causes uncontrollable muscle contractions. People with dystonia experience abnormal postures and repeated or sustained twisting movements that may be painful and interfere with daily activities.

Dystonia affects around 250,000 people in the United States. It is the third most common movement disorder. Parkinson’s disease and essential tremor are more common.

Dystonia affects people of all ages, ethnicities and races. Women are three times more likely than men to experience dystonia.

Dystonia Symptoms

Symptoms of dystonia differ from person to person. Involuntary muscle contractions can affect different body parts, causing specific movement problems.

• Cervical dystonia or spasmodic torticollis affects the neck muscles, causing the head to tilt and/or turn to one side, forward, or backward.
• Cranial dystonia affects the muscles of the head and face, causing problems with facial expressions and involuntary jaw and mouth movements. Cranial dystonia includes blepharospasm and oromandibular dystonia.
• Blepharospasm affects the muscles in the eyelids, causing problems with vision due to sustained eyelid closure.
• Oromandibular dystonia affects the muscles of the jaw, mouth, or tongue, causing problems with speech, swallowing, and chewing.
• Laryngeal dystonia or spasmodic dysphonia affects the vocal cords, causing strained or breathy speech or low speaking volume.
• Dystonia affecting the muscles of hands or forearms causes problems with handwriting or other activities using the hands.
• Dystonia affecting the muscles of the legs or feet causes difficulties when walking or running.
• Task-specific dystonia occurs only during performance of a specific activity. It doesn’t occur during other activities that use the same muscles. For example, a musician may experience problems with the right hand while playing the piano, but not while writing with that hand.

Symptoms may worsen over time, and in some cases spread to adjacent body parts. Certain triggers, including anxiety, fatigue, and stress can worsen muscle contractions. Specific repetitive activities, such as writing (writer’s dystonia) or playing a musical instrument (musician’s dystonia) may also worsen symptoms of dystonia.

What Causes Dystonia?

The exact cause of dystonia is unknown. Researchers think abnormalities in or damage to specific brain regions change the way nerves communicate, affecting control of movement.

Some types of dystonia are passed down in families. Others are symptoms of another underlying condition or disease, including:

• Parkinson’s disease, Huntington’s disease, or Wilson’s disease
• Brain injuries due to childbirth or trauma
• Stroke or any other condition causing lack of oxygen to the brain
• Brain tumors
• Infections such as encephalitis or tuberculosis
• Heavy metal or carbon monoxide poisoning
• Reactions to certain medications

Types of Dystonia

The characteristics of dystonia are classified in two categories: Axis I and Axis II. Both Axis I and Axis II are used to describe every type of dystonia.

Axis I Classifications

Axis I characterizes dystonia types based on clinical features:

• Age of onset refers to the age when dystonia symptoms began:
  • Infancy (birth to 2 years of age)
  • Childhood (3 to 12 years of age)
  • Adolescence (13 to 20 years of age)
  • Early adulthood (21 to 40 years of age)
  • Late adulthood (41 years of age and older)
• Body distribution describes the affected body regions and how close these areas are to each other. Subgroups include:
  • Focal dystonia: Symptoms are in one body part or one muscle group
  • Generalized dystonia: Affects most or all of the body, including the torso
  • Hemidystonia: Affects the arm and leg on the same side of the body
  • Multifocal dystonia: Affects two or more unconnected body regions
  • Segmental dystonia: Involves two or more body regions next to each other
• Temporal patterns describe the changes in symptoms over time:
  • Static (unchanging)
  • Progressive (worsening)
  • Symptoms that happen at specific moments (task-related symptoms, persistent symptoms, daytime-only symptoms or sudden, unexpected symptoms)
• Related clinical features describe whether dystonia occurs along with other neurological signs or symptoms:
  • Isolated dystonia occurs without other signs
  • Combined dystonia occurs with other signs

Axis II Classifications

Axis II characterizes the cause of dystonia:

• Problems of the nervous system: Brain scans or other testing may show structural issues or injuries to the brain causing dystonia. Some medications used to treat psychiatric conditions (neuroleptics) can cause dystonia symptoms. These symptoms may be short-lived (acute dystonia) or more long-lasting (tardive dystonia).
• Genetics: Some dystonia types are passed down from parents to children through inherited gene mutations. Other types may result from changes to genes that happen over a person’s lifetime (acquired gene mutations).
• No known cause: Dystonia with no known cause is called idiopathic dystonia.

Evaluating and Treating Dystonia

Diagnosing dystonia involves a comprehensive physical examination. In many cases, that is all that is required for diagnosis. In some cases, doctors may order imaging or genetic testing in order to confirm a dystonia diagnosis.

Learn more about dystonia diagnosis at Penn Medicine

Our movement disorder specialists customize treatment plans to meet the needs for every individual with dystonia. Penn’s Movement Disorders Center offers all of the available treatments for dystonia, including medications, botulinum toxin injections, and surgical options.

Learn more about dystonia treatment at Penn Medicine

Make an Appointment

Please call 800-789-7366 or make an appointment.

Penn Programs & Services for Dystonia