Dystonia Research

Medical researchers don’t know what causes this movement disorder. However, they believe that condition results from damage to or an abnormality in the basal ganglia or some other regions of the brain control movement. Individuals suffering from this condition could be having an abnormality in their brain’s capability to process neurotransmitters (a group of chemicals that help brain cells to communicate with each other).

Research also shows that the dystonia could be as a result of abnormalities in the way the human brain generates commands to move and processes information. In most cases, there are no abnormalities that have seen using diagnostic imaging, such as magnetic resonance imaging.

Dystonias can be categorized into 3 groups: genetic, idiopathic, and acquired:

Idiopathic dystonia is the form of dystonia that doesn’t have a clear cause. This is the most common instance of dystonia, more and more resources are currently being directed towards this form of dystonia in a bid to find out what causes it.

There are several causes of genetic dystonia. Some forms seem to be inherited in a somewhat a dominant manner, meaning only a single defective gene carrier parent is needed to pass over the disorder to their offspring. Each offspring of a parent carrying the defective gene will have a 50-50 chance of carrying the gene. It’s important to take note that genetic dystonia symptoms may widely in severity and type even among same family members.

In some cases, individuals who inherit the abnormal gene might not develop the condition. Research shows that having a single mutated gene may be sufficient to trigger the chemical imbalances which may cause dystonia. However, other environmental or genetic factors may come into play. Knowing your family’s inheritance pattern can help greatly help in understanding the risk of passing the condition along to future generations.

Also known as secondary dystonia, acquired dystonia, results from environmental factors, exposure to some types of medications, or due to damage on the brain. Some causes of secondary dystonia include reaction to certain drugs, carbon monoxide or heavy metal poisoning, stroke, trauma, certain infections or birth injury (including lack of oxygen in the brain, neonatal brain hemorrhage and hypoxia).

Dystonia may also be a symptom of other impending diseases/conditions, some of which might be hereditary. Secondary dystonia often comes to a halt and doesn’t spread to other muscles in the body. Dystonia that is as a result of certain drugs often plateaus if they are stopped quickly.

Dystonia Diagnosis

As of now, there is no one test to confirm the diagnosis of this condition. The diagnosis of dystonia rests in the ability of a physician to observe its symptoms and obtain a thorough medical history of the patient. Doctors must be familiar with the symptoms and be able to recognize the physical signs in order to diagnose it correctly.

Tests may be ordered in certain instances to rule out other disorders or conditions. The kind of medical specialists who are typically trained to treat and diagnose this condition are movement disorder neurologists.

The dystonia diagnosis process may include:

Family historyPatient historyLab studies such as urine and blood tests, and a cerebrospinal fluid analysisElectrical recording techniques, like electroencephalography (EEG) or electromyography (EMG)Genetic testing for particular forms of dystoniaOther screenings and tests aimed at ruling out other disorders of conditions

Even though this condition has no cure, medications can greatly help to cut out the symptoms. At times, surgery is used to regulate or disable nerves or specific regions of the brain in people with acute dystonia.