Dystonia (Muscle Spasms)

• Dystonia is a disorder that causes involuntary muscle spasms or contractions. People with this disorder can experience uncontrollable twisting, jerking or abnormal postures or body positions. Dystonia can affect any part of the body, including the arms, legs, trunk, face, and vocal cords.
• Dystonia affects people of all ages, races, and ethnicities. Symptoms may start in childhood. Some people have symptoms that start in their late teens or early adulthood.
• Some people get worse over time. Others have mild symptoms that do not change over time.
• Depending on the part of the body affected, dystonia can seriously impact day to day life. For example, if neck muscles are affected, it can cause difficulty chewing and swallowing.
• Because of the involuntary nature of this disorder, it can be embarrassing, causing emotional distress, anxiety, and depression.

• Dystonia happens when a deep part of the brain (called the basal ganglia) does not function properly. This part of the brain controls movement and prevents unwanted movements.
• There are many different causes for dystonia:
  
  • Some people get dystonia, because it was passed down from a family member (inherited).
  • Other people get dystonia because of a brain injury, infection, or exposure to a drug or chemical.
  • Some people get dystonia after many years of a very repetitive activity, such as writing or playing a musical instrument.

Doctors diagnose dystonia by:

• Learning about your child’s medical history.
• Identifying risk factors your child may have been exposed to.
• Performing a physical and neurologic exam. Review the videos of abnormal movements. For some children, doctors may also order blood and urine tests, brain wave testing, or brain scanning.
• It is possible that doctors will not find the cause. Some people with mild dystonia may go undiagnosed for many years.

• Currently, there are no medicines to prevent or cure dystonia.
• There are treatment options that can help with symptoms. Your child’s doctor will select treatments that are best for your child based on their symptoms. If your child’s doctor finds a cause, they may recommend a specific treatment.

Medicines are helpful to some people. The most common medicines are:

• Anti-cholinergics, such as trihexyphenidyl (Artane)
• Dopamine replacement therapy, such as carbidopa/levodopa (Sinemet)
• Benzodiazepines, such as clonazepam (Klonopin) and diazepam (Valium)
• Baclofen (Lioresal, Gablofen or Ozobax)
• Muscle relaxants

Doctors prescribe these medicines 1 at a time to see how your child responds, balancing the benefits against potential side effects.

• Some people with dystonia benefit from Botox. We inject this medicine in clinic. Botox can help the most when dystonia affects 1 part of the body (focal dystonia). The toxin in Botox weakens the affected muscles and can help prevent abnormal movements and postures.
• Botox injections wear off over time, so we may give them every 3 to 4 months.

• Rehabilitation therapies, such as physical and speech therapy, can help some people with dystonia.
  
  • For example, speech therapy can help people with dystonia that involves their oral or neck muscles.
  • Physical therapy, the use of splints, stress management, and biofeedback can help to treat and reduce symptoms.

• If medicine, Botox, and rehabilitation therapies do not help enough, we may recommend surgery. With Deep Brain Stimulation (DBS), we surgically implant small metal cups (electrodes) into specific parts of the brain. They are connected to a pulse generator. The generator sends small amounts of electricity to the exact part of the brain that causes symptoms, blocking the electrical signals that cause the symptoms.
• DBS involves a team of doctors working together, including neurologists, neurosurgeons, psychiatrists, and neuropsychologists. DBS requires regular follow-up appointments and adjustments to the electrical settings.
• Your child’s doctor will talk with you about the benefits and risks of DBS surgery. Although some children greatly benefit from surgery, there is no guarantee that surgery will help everyone with dystonia.