Overview
Muscles contract involuntarily uncontrollably due to the movement disorder called dystonia. This may result in repetitive or twisting motions. The Latin prefix “dys-” and the Greek term “-tonos,” which denotes muscle tension, are combined to form the name “dystonia.” The two words together indicate a condition when your muscles tense up improperly or incorrectly. This condition can manifest in various ways: it can affect a single part of your body (referred to as focal dystonia), involve two or more adjacent parts (known as segmental dystonia), or impact all parts of your body (referred to as general dystonia). Mild to severe muscular spasms are possible. They might hurt, and they might make it difficult for you to carry out your everyday activities.
Dystonia cannot be cured, however treatment and medicines can lessen symptoms. In patients with severe dystonia, surgery may be utilized to block or regulate nerves or specific brain regions.
Symptoms
Different people are impacted by dystonia in various ways. A muscle spasm could:
- Start in a single location, such your arm, neck, or leg. After age 21, the neck, arm, or face are typically where focal dystonia first manifests itself. It often stays localized or progresses to become segmental.
- Accompanied by stress, exhaustion, or anxiety.
- Become increasingly obvious over time.
- Take place while performing a certain task, like handwriting.
The following body parts may be impacted:
- Eyelids. Rapid blinking or spasms can lead to the involuntary closure of your eyes, a condition known as blepharospasms, which can impede your ability to see. Typically painless, spasms can worsen in bright light, while reading, watching TV, when stressed, or when engaging with others. Your eyes may feel gritty, dry, or light–sensitive.
- Neck (cervical dystonia). Your head may twist and move to one side, pull forward or backward, or both during contractions, which may be painful.
- Voice box and vocal cords (laryngeal dystonia). Your voice may be strained or whispery.
- Jaw or tongue (oromandibular dystonia). Drooling, slurred speech, and trouble swallowing or chewing are all possible symptoms. Oromandibular dystonia, which frequently coexists with cervical dystonia or blepharospasm, can be uncomfortable.
- Hand and forearm. Writer’s dystonia or musician’s dystonia, for example, are specialized varieties of dystonia that only happen when you perform a repetitive task like writing or playing a certain musical instrument. In most cases, symptoms don’t appear when your arm is at rest.
Early dystonia symptoms are frequently sporadic, minor, and associated with a particular activity. If you experience involuntary muscle contractions, consult your doctor.
Causes
It is unknown what causes dystonia specifically. However, it might entail modifications to how nerve cells in various parts of the brain communicate with one another. Certain types of dystonia run in families.
The three categories of dystonia causes are primary, secondary, and “dystonia plus” problems, according to experts.
- Primary dystonia: At this point, dystonia is the predominant illness. Typically, it is “idiopathic,” which means it occurs for no apparent reason. Experts believe genetics, or the fact that illness runs in families, may also be a factor.
- Secondary dystonia: This is the case when dystonia is a symptom of another problem or condition.
- Dystonia plus: Dystonia is a primary symptom of several neurological diseases, although there are other symptoms as well.
Dystonia may also be a symptom of one or more additional illnesses or conditions, such as:
- Brain injury from trauma
- Brain tumors or specific conditions that certain cancer patients develop (paraneoplastic syndromes)
- Carbon monoxide poisoning or a lack of oxygen
- Infections like encephalitis or TB
- Adverse drug reactions or heavy metal toxicity
- Stroke
- Injury from birth
- Huntington’s disease
- Parkinson’s disease
- Wilson’s disease
Diagnosis
Your doctor may begin the diagnosis of dystonia by reviewing your medical history and performing a physical exam.
Your doctor might advise the following to ascertain whether underlying disorders are the source of your symptoms:
- Blood or urine tests. These tests may show signs of toxins or other diseases.
- Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scan. The results of these imaging tests can reveal any issues with your brain, including tumors, lesions, or signs of a stroke.
- Electromyography (EMG). The electrical activity of the muscles is assessed with this technique.
- Genetic testing. Some types of dystonia are linked to particular genes. Treatment can be influenced by knowing if you carry certain genes.
Treatment
Your doctor might suggest a mix of drugs, therapy, or surgery to treat dystonia.
Medications
Your muscular spasms may be lessened or stopped by injections of botulinum toxin into specific muscles. Typically, injections are repeated every three to four months.
The majority of side effects are minor and transient. Weakness, a dry mouth, or vocal changes are a few examples.
Other drugs target neurotransmitters, which are brain chemicals that influence how your muscles move. The choices consist of:
- Carbidopa–levodopa. Dopamine levels may rise as a result of this treatment. Additionally, this medication may be tried as a diagnostic aid for some forms of dystonia.
- Trihexyphenidyl and benztropine. Other than dopamine, these two drugs affect other neurotransmitters. Memory loss, impaired vision, tiredness, dry mouth, and constipation are possible side effects.
- Diazepam, clonazepam, and baclofen. These drugs lessen neurotransmission, which may help with some types of dystonia. They could have adverse consequences, such drowsiness.
- Tetrabenazine and deutetrabenazine. These two drugs stop dopamine from working. Sedation, anxiety, and depression are examples of possible side effects.
Therapy
Your doctor may advise you to:
- Physical therapy, occupational therapy, or both can be used to improve functionality and reduce symptoms.
- Muscle stretches or massages to relieve discomfort.
- Speech therapy if your voice is affected by dystonia.
Surgery
If you have significant symptoms, surgery might be beneficial. Several surgical procedures can be used to treat dystonia:
- Deep brain stimulation. A generator is surgically implanted in your chest, and electrodes are placed in a specific area of your brain. Your brain receives electrical pulses from the generator that may aid in controlling the contraction of your muscles. You can modify the generator’s settings to cure your particular problem.
- Selective denervation surgery. The nerves responsible for regulating muscular spasms are cut during this surgery. When other cervical dystonia treatments have failed, this can be a possibility.
