Definition & Overview

Dystonia is a medical condition characterized by involuntary muscle contractions causing abnormal posture or repetitive movements. In some cases, the movements are similar to those of a tremor. Voluntarily moving the affected muscles may cause the condition to worsen and spread to nearby muscles.

The exact causes of dystonia are yet to be established, but researchers believe that the inability of the brain to perform some functions contribute to the development of the condition. Other possible causes are accidents (such as those resulting in injuries that affect the brain) and heredity. Research shows that a child is at a higher risk of developing the condition even if only one of his or her parent carries the abnormal gene that is linked to the development of dystonia.

Therefore, dystonia is classified into three types: Idiopathic, genetic, and acquired. Idiopathic dystonia refers to conditions wherein the exact cause cannot be determined. Genetic dystonia refers to cases wherein the condition was passed on from parent to child. Acquired dystonia is a secondary result of an accident, such as a head injury, hypoxia (lack of oxygen to the brain), infections, stroke, or neonatal brain haemorrhage.

Apart from the three main classifications, dystonia is also classified according to the affected part of the body:

  • Generalized dystonia refers to conditions where most or all parts of the body are affected.
  • Focal dystonia describes a condition wherein only a specific body part is affected.
  • Multifocal dystonia refers to conditions wherein two or more unrelated body parts are affected.
  • Segmental dystonia is a medical term used when two adjacent body parts are affected.
  • Hemidystonia describes a condition wherein the arms and legs on either the left or right side of the body are affected.

Cause of Condition

Although doctors believe that complications with the brain play a role in the development of dystonia, the exact causes are unknown. However, there are factors that contribute to its occurrence. In genetic dystonia, either one of the child’s parents may pass on the abnormal gene that causes the condition. In acquired dystonia, head injuries, infections, and other medical disorders may affect brain functions resulting to dystonia.

However, if the condition is classified as idiopathic dystonia, it means that the doctors have not been able to determine the exact cause and have eliminated the possibility that it stemmed from heredity or other existing medical disorders.

Key Symptoms

The primary symptom of dystonia is involuntary muscle contractions. The condition can affect any muscle of the head, face, or body. The symptoms usually begin slowly but will likely progress until they have reached their plateau. This can take anywhere between a few months to a couple of years.

Some of the most common affected muscles are the ones on the neck. Neck spasms have a tendency to move the neck sideways or in a jerking motion repeatedly. If dystonia progresses to advanced stages, or when it reaches its plateau, it will likely affect the shoulder, arms, and legs as well.

In some cases, facial muscles are affected. If dystonia affects the eyelids, it can cause them to shut completely causing functional blindness.

Dystonia can also affect the vocal chords and cause the person to speak in a tight whispering voice.

It’s important to note that while dystonia is a chronic disorder, it does not affect a person’s intelligence or cognitive abilities in any way.

When the symptoms first appear, they often tend to be mild. In fact, some people may not realize they have already developed the disorder. However, it’s best to consult a doctor when the symptoms are still mild.

If the condition is left untreated, there is a risk of developing complications, such as permanent physical deformities and disabilities, functional blindness, speech problems, and chronic pain and fatigue.

Who to See and Types of Treatment Available

Most people visit a doctor when they notice that the symptoms are worsening. By then, they would have already experienced months or even years of discomfort.

To diagnose the condition, a family doctor or a general practitioner will start by obtaining a detailed description of the symptoms. The patient will also be asked to provide a detailed medical history and the history of diseases in the family. The doctor will then attempt to identify any underlying condition. The disorder may be a symptom of another medical problem. If so, treatment will include finding a solution for the underlying problem and not just the symptom.

Unfortunately, there is no available cure for dystonia. The available treatment options are designed to manage the symptoms so that the person can continue living a normal life. Before deciding on the most appropriate treatment plan, the doctor will request several diagnostic exams that typically include blood and urine tests, a CT scan, X-ray, or MRI. Electromyography, which is a test to measure the electrical activity in the muscles, will also be performed.

Dystonia cannot be cured using any type of medication or surgery. However, some medications can reduce the symptoms, especially if they’ve already affected the person’s way of living.

Medications such as, Botulinum Toxin A, more popularly known as Botox, can reduce the contractions by temporarily paralyzing the muscles that cause them. Botox is only effective for a certain time period. For some people, the effects of Botox may only last a few weeks. For others, the effects can last for a few months or even more. When the effects begin to fade, the person will need to consult a doctor for another Botox injection.

Drugs that increase or reduce the brain’s ability to produce dopamine can also help relieve the symptoms of dystonia. Other than medications, dystonia patients will also likely to undergo physical therapy, speech therapy, or a sensory trick to help them cope with the symptoms.

In some cases, the doctor may recommend surgery, such as deep brain stimulation. However, this is only recommended if non-surgical treatment methods have failed to improve the person’s condition.

Alternative forms of treatment, such as yoga, acupuncture, meditation, and Pilates may also be taken advantage of as long as they are approved by your physician.

References:

  • National Institute of Neurological Disorders and Stroke: "Dystonia Fact Sheet."
  • Dystonia Medical Research Foundation: "What is Dystonia?"
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