Dystonia

Dystonia is a movement disorder closely related to Parkinson’s disease. Unlike Parkinson’s, many people have never heard of dystonia, despite the fact that there are nearly 250,000 patients in the United States alone.

Definition & Facts

Dystonia is a neurological disorder specifically affecting movement. Dystonia is characterized by irrepressible muscle spasms and prolonged contractions. These contractions often result in irregular postures and/or repetitive motions. Many individuals experience pain during these movements.

Dystonia may present on its own or with accompanying neurological complications such as tremors or poor motor control. The severity of symptoms can vary, as can the areas of the body that are affected. Both are determined by the type of dystonia, of which there are several. In some cases, dystonia may affect only one solitary muscle, while others may involve entire muscle groups. 

Symptoms & Complaints

On occasion, dystonia may inhibit a particular action while other functions remain. Symptoms also vary depending on the type of dystonia, with some forms considered more debilitating than others.

There are several general signs that are often present at the onset of dystonia that are not type-specific. One of the most common symptoms of dystonia is cramping in one or both feet, often following physical activity. It is also possible for an individual to experience seemingly random foot cramps while at rest.

Rapid, irrepressible eye blinking is relatively common, typically made worse by stress or fatigue. Dystonia may lead to decreased fine motor control, which may result in handwriting becoming sloppy or illegible.

Other early symptoms may include impaired speech, involuntary neck movements and tremors. Dystonia generally does not disrupt cognitive abilities such as language comprehension or problem-solving.

The initial onset of symptoms is typically mild; so mild, in fact, that an individual may not recognize them at first. Lack of sleep, intense physical activity, or prolonged stress may cause symptoms to manifest. In the majority of cases, symptoms will begin to spread throughout the body and become progressively worse.

Causes

When discussing causes, dystonia is often separated into three groups. The first, known as idiopathic dystonia, is the most common. Unfortunately, despite extensive study, the exact cause remains unknown for many cases. Research indicates that dystonia likely results from anomalies or damage to the basal ganglia, the area of the brain largely responsible for controlling movement and initiating muscle contraction.

Researchers believe that complications in the brain’s processing of neurotransmitters, chemicals that enable communication between brain cells, or other irregularities in the brain may interfere with the brain’s ability to generate movement and could contribute to or cause dystonia.

The second group is called acquired dystonia. It is believed that acquired dystonia occurs after an individual has sustained damage to the brain or after being exposed to certain categories of medicine. Injuries sustained at birth may be the source of acquired dystonia, especially in cases where the brain was deprived of oxygen.

Acquired dystonia may also be caused by drug reactions, traumatic brain injury, certain infections, and stroke. This type of dystonia often stays in the affected area of the body and does not spread.

The third group is known as genetic dystonia. Genetic dystonia can be the result of several factors. Most cases of genetic dystonia are dominantly inherited. This means that the disorder may be passed from parent to child even if only one parent is a genetic carrier. An individual who inherits the gene will not necessarily develop the disorder; however the presence of the defective gene may cause chemical imbalances that predispose the individual to dystonia.

Diagnosis & Tests

Diagnosing dystonia can be challenging for several reasons, primarily the sporadic onset of symptoms and the similarity of dystonia symptoms. The symptoms of the disorder are also often mild in the early stages, meaning that the person may not realize that they are displaying symptoms at all.

The symptoms of dystonia are similar to the symptoms of numerous illnesses and disorders. This combination of challenges has led to dystonia being misdiagnosed fairly regularly.

Diagnosis of dystonia now involves several elements, including a detailed medical history and family history and a thorough physical examination. Obtaining a comprehensive patient history is especially helpful in ruling out other disorders with similar symptoms, as a family history of movement disorders may indicate a pattern of inheritance.

Blood tests and clinical urine tests may also be used to help identify any underlying conditions or eliminate possible causes for the existing symptoms.

Certain diagnostic tests are available to help accurately identify dystonia. Magnetic resonance imaging (MRI) and computed tomography (CT) scans can be used to detect the presence of irregularities in the brain, such as lesions and tumors.

Electromyography is used to evaluate the health and activity of the muscles. Genetic testing can be used to test for genetic mutations associated with genetic dystonia.

Treatment & Therapy

There is currently no cure for dystonia, nor is there any treatment to slow its progression. There are, however, several options for the management of symptoms. Treatment options are varied and depend on several factors, including the type of dystonia and the severity of the case.

Botulinum injections are often used to treat dystonia. Botulinum can help inhibit muscle spasms, affording temporary relief from symptoms. Patients typically will begin to feel the effects of botulinum injections within several days of administration. This treatment is effective for several months at a time.

Several physical therapy options are available to help minimize the effects of symptoms. Individuals with dystonia often benefit from speech therapy, stress management, strengthening and stretching exercises, neuromuscular electrical stimulation, and biofeedback. Physical therapy may help to improve posture, balance, and endurance. Physical therapy treats the ancillary conditions but does not treat the dystonia itself.

Deep brain stimulation is a surgical procedure often used to treat dystonia. For deep brain stimulation, electrodes are implanted into the regions of the brain responsible for movement. Measured quantities of electricity are conducted through the electrodes and into the brain in order to inhibit the electrical impulses responsible for the manifestation of symptoms.

Prevention & Prophylaxis

Experts do believe, however, that certain lifestyle choices may help to reduce the risk of dystonia. These include a balanced diet, regular physical activity, and abstaining from drugs and other toxic substances.