Dystonia Meaning
Dystonia is a medical condition that affects body movement. It occurs when muscles contract involuntarily, causing repetitive or twisting movements. It can affect one part of the body (focal dystonia), two or more related parts (segmental dystonia), or the entire body (generalized dystonia). Muscle contractions (spasms) can be mild or severe and can affect a person’s performance or activities.
This condition can be painful and can affect daily activities. Unfortunately, there is no cure for dystonia. However, there are medications available to improve the symptoms. In severe dystonia, surgery is sometimes also performed to deactivate or rewire certain nerves or areas of the brain.
Symptoms of Dystonia
Dystonia can occur at any age, but genetic and idiopathic dystonia usually appear earlier, namely during childhood. Dystonia that occurs in early childhood usually begins with symptoms in the legs and can progress to other areas. Some symptoms tend to occur after a day of activity.
In adults, dystonia usually occurs in one adjacent part of the body, most often involving the muscles of the neck and face. This condition can arise when doing certain activities, such as writing or walking. Well, symptoms can get worse when someone is stressed, tired, or anxious. These symptoms then become clearer over time. Symptoms of dystonia based on the area affected include:
- Neck (cervical dystonia), characterized by the head turning to one side, moving forward and backward, and sometimes causing pain.
- Eyelid twitching, characterized by rapid blinking or involuntary spasms that can affect vision.
- Jaw or tongue (oromandibular dystonia), characterized by unclear speech, drooling, or difficulty chewing and swallowing.
- The voice box and vocal cords, characterized by a voice that sounds pinched or whispered.
- Hand or lower arm. This symptom usually occurs when the sufferer makes repetitive movements. Examples include playing a musical instrument or writing.
Causes of Dystonia
The exact cause of dystonia is unknown but likely involves changes in areas of the brain or problems with communication between the brain and nerves . Dystonia can be inherited, acquired, or idiopathic (no known cause).
In congenital dystonia, the disorder is passed down genetically. In acquired dystonia, it is caused by brain damage or degeneration (for example after a brain injury or stroke) or the use of certain medications.
In idiopathic dystonia, there is no identifiable cause and no structural damage or degeneration of the brain. Dystonia is often caused by damage to the basal ganglia. This damage can be caused by brain trauma, stroke, tumors, lack of oxygen, infection, drug reactions, and lead or carbon monoxide poisoning.
Dystonia Risk Factors
There are several factors that can trigger dystonia in a person, such as:
- Certain genetic conditions.
- Certain diseases or medical conditions. For example, Wilson’s, Huntington’s, or Parkinson’s disease.
- Traumatic brain injury.
- Stroke.
- Brain tumors or brain abnormalities caused by cancer.
- Lack of oxygen or carbon monoxide poisoning.
- Infections, such as tuberculosis or encephalitis.
- Reactions to certain medications.
Diagnosis of Dystonia
In the initial stage, the doctor will conduct a medical interview about the patient’s symptoms and medical history. After that, the doctor will conduct a physical examination. If necessary, the doctor will also conduct supporting examinations, such as:
- Blood or urine tests, to show the presence of toxic substances or other health conditions that are causing dystonia.
- Magnetic Resonance Imaging ( MRI) or Computerized Tomography (CT) Scan, to identify abnormalities in the brain, such as tumors, lesions, or strokes.
- Electromyography (EMG), to measure electrical activity in muscles.
Known Types of Dystonia
Based on the part of the body affected, dystonia is divided into several types. Here are some types:
- Generalized dystonia: The entire body can be affected by generalized dystonia.
- Focal dystonia: Only one part of the body is affected by focal dystonia.
- Multifocal dystonia: Several disconnected body parts are affected by multifocal dystonia.
- Segmental dystonia: Adjacent body parts are affected by segmental dystonia.
- Hemi dystonia: When dystonia affects both arms and legs on the same side of the body, it is called Hemi dystonia.
Based on its pattern, dystonia can also be classified as a syndrome:
- Blepharospasm: This is a form of dystonia that affects the eyes. Uncontrolled blinking often marks its onset. Usually, in the early stages, this condition affects only one eye. However, eventually, both eyes will be affected. The eyelids close involuntarily due to spasms, and sometimes, this condition keeps the eyelids closed. The affected person can see clearly despite blinking. However, they can become functionally blind if the eyelids close permanently.
- Torticollis: This type of cervical dystonia is most common in middle-aged people. Due to cervical dystonia, the neck muscles can be affected, and the head can rotate and move backward or forward.
- Cranial dystonia: Muscles in the head, face, and neck are affected by cranial dystonia.
- Oromandibular dystonia: The jaw, lip, and tongue muscles spasm with this dystonia. People who experience it may have difficulty speaking and swallowing.
- Spasmodic dystonia: This type of dystonia affects the muscles that enable speech.
- Tardive dystonia: This type is caused by a reaction to a medicine. Usually, the symptoms are temporary and can be treated with medication.
- Paroxysmal dystonia: This type of dystonia occurs only in certain episodes. The sufferer remains normal at other times.
- Torsion dystonia: This is a very uncommon condition where a person has severe deformity and their entire body is affected. Symptoms usually begin in childhood and worsen with age. Research suggests that torsion dystonia can be inherited and is caused by a mutation in the DYT1 gene.
- Writer’s cramp: Dystonia that occurs specifically while writing is known as writer’s cramp. The muscles of the hand or forearm are particularly affected.
Dystonia Treatment
To date, there is no cure for or slow down dystonia. However, there are a number of treatments that can ease some of the symptoms of dystonia. Here are some treatment options to ease the symptoms of dystonia:
1. Botulinum toxin
Botulinum injections are one of the most effective treatments for focal dystonia. Botulinum is injected into the affected muscle to prevent muscle contractions and correct abnormal movements. The effects are usually seen a few days after the injection and can last for several months before repeat injections.
2. Medicines
There are several classes of drugs that affect neurotransmitters to reduce the effects of dystonia. These drugs include:
- Anticholinergic agents are able to block the effects of the neurotransmitter acetylcholine. Drugs in this group include trihexyphenidyl and benztropine.
- GABAergic agents are drugs that regulate the neurotransmitter GABA. These drugs include benzodiazepines such as diazepam, lorazepam, clonazepam, and baclofen.
- Dopaminergic agents that work on the dopamine system and the neurotransmitter dopamine, to help control muscle movement.
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Deep Brain Stimulation (DBS)
DBS, or deep brain stimulation, is usually recommended for people with dystonia who are not affected by medication. DBS involves surgically implanting small electrodes connected to a pulse generator into specific areas of the brain that control movement. Controlled amounts of electricity are then sent to the area of the brain to block the electrical signals that cause symptoms.
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Operation
This procedure is needed when dystonia disrupts the pathways responsible for abnormal movements at various levels of the nervous system. Surgery is performed to cut nerves leading to nerve roots deep in the neck near the spinal cord or to remove nerves at the point where they contract.
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Therapy
Speech therapy or voice therapy may help some people with spasmodic dystonia. Physical therapy, splinting, stress management, and biofeedback may also help individuals with certain forms of dystonia.
Complications of Dystonia
Dystonia that is left untreated can cause several complications, including:
- Limited movement, making it difficult to carry out daily activities.
- Difficulty moving the jaw, swallowing, or speaking.
- Fatigue and pain due to excessive muscle contractions.
- Blindness if dystonia affects the eyelids.
- Psychological problems, such as anxiety, depression, or social withdrawal.
Prevention of Dystonia
It is almost impossible to prevent dystonia when it occurs due to unknown causes. However, for cases of dystonia caused by certain medical conditions, prevention can be done by exercising regularly and consuming a balanced nutritious diet.
When to see a doctor?
Symptoms of early dystonia are often sporadic, mild, and related to specific activities. If you experience involuntary muscle contractions, consult your healthcare provider.
Frequently Asked Questions
What are alternative treatment methods for dystonia?
Research is ongoing to prove the effectiveness of alternative treatments for dystonia. However, yoga, meditation, breathing techniques and others can help relieve tension and pain in the body.
Does therapy help manage dystonia?
Physical therapy, occupational therapy, speech therapy, etc., can help relieve the symptoms of dystonia.
What tests are helpful in diagnosing dystonia?
To diagnose dystonia, a healthcare provider may order blood tests, urine tests, MRI / CT scans, electromyography tests or gene tests to determine the cause.
