Dystonia - All You Need to Know

Introduction:

Dystonia is a neurological muscle disorder that causes involuntary or unintended movement of muscles. It causes jerky hand movements and muscle spasms. Unusual and awkward postures can also be seen as a part of the condition. There can be different types of dystonia, one that affects one muscle, one that involves a group of muscles, or all the muscles in the body. They can be inherited genetically due to a brain injury or exposure to some toxins or medication.

What Is Dystonia?

Dystonia is a neurological disorder that can be painful. It can include unintentional movements like muscle spasms and contractions. There are different types of dystonia that affect other parts of the body. The symptoms may worsen with fatigue, stress, or prolonged activity. Some cases worsen with time. The condition occurs due to faulty signals sent from the brain. Dystonia can be temporary or can be present life-long.

What Are the Causes of Dystonia?

Dystonia is caused by faulty signals from the brain, which is usually related to the basal ganglia. It is a group of brain structures that connect the different areas of the brain. They also coordinate how those areas work together. The causes of dystonia are classified into three categories by the experts.

1. Primary Dystonia: When dystonia is the main condition, it is called primary dystonia. The exact reason behind it has yet to be apparent. Hence the cause is idiopathic. However, experts consider the grounds to be genetic.

2. Secondary Dystonia: When dystonia occurs due to some other disease or condition, it is called secondary dystonia. Secondary dystonia can occur as a result of;

• Brain tumor.

• Other brain conditions like Parkinsonism, epilepsy, etc.

• Cerebral hypoxia (a condition where there is insufficient oxygen supply to the brain).

• Certain drugs.

• Genetic conditions like Wilson’s disease.

• Some infections like encephalitis (inflammation of the brain).

• Metabolic conditions.

• Stroke.

• Need for more supply of oxygen.

• Traumatic injuries to the brain.

3. Dystonia Plus: This is a neurologic condition where dystonia is the primary symptom, but there can also be other associated conditions.

What Are the Symptoms of Dystonia?

Uncontrolled muscle movements are the most common symptoms seen. They can include;

• Movements that are uncomfortable and painful sometimes feel like an electric shock.

• Repetitive tremors.

• Cramping of the foot.

• Uncontrollable blinking, grinding actions.

• Difficulty in speech.

• Some movements may last a few seconds or minutes, while others may last many days or months.

• Some movements can cause twitching or stretching, making the patient appear in some weird posture.

• The symptoms often tend to become worse while trying to use the affected muscle.

What Are the Types of Dystonia?

There can be differences in the symptoms depending on where the movement occurs. There are five main types of Dystonia based on the part affected and signs seen, which are;

1. Focal Dystonia: This type affects only one part of the body. According to studies, this affects more people, more than ten percent, compared to generalized dystonia. When it involves the eyelids, it causes spasms in the eyelids. The condition is called blepharospasm. When it affects the oral cavity, it causes grinding of teeth and is called bruxism. It causes cramps in the hands or wrist, causing ‘writer’s cramps’.

2. Segmental Dystonia: This condition affects two or more parts of the body adjacent to each other. It can affect adjacent areas like parts of the face, head and neck, or the wrist and the arm, etc. Cervical dystonia is the most common example of segmental dystonia. It affects the head and neck. Meige syndrome is another example of segmental dystonia. It is a rare condition in which a person has frequent spasms that are forceful in the eye, jaw, tongue, and lower facial muscles.

3. Multifocal Dystonia: This affects one or more body parts that are not connected. Dystonia that affects both hands can be an example. Another example is Tardive dyskinesia, an uncommon side effect of some medicines. Involuntary facial movements like blinking rapidly, chewing, frowning, sucking movements with lips, etc. It can affect other body parts like fingers making movements like playing piano, rocking the pelvis, etc.

4. Hemidystonia: This condition affects half of the body. Hemi is derived from a Greek word meaning ‘half.’ Movements in the right hand along with the right side of the face are an example of this. A stroke usually causes it.

5. Generalized Dystonia: This type of dystonia can affect the legs and the main part of the body to which the hands and legs are connected (or the trunk).This usually happens when dystonia progresses over time.

How Is Dystonia Diagnosed?

There is no specific test by which dystonia can be diagnosed, as it can also be a symptom in many other syndromes. However, a detailed case history might point to this condition.

• Detailed Case History: The condition is diagnosed initially by taking a detailed case history. Questions regarding the symptoms, associated conditions, and family history of dystonia are asked during the case history.

• Blood and Urine Tests: These tests check for toxins and infections that may cause the condition.

• Magnetic Resonance Imaging (MRI): An MRI is carried out to rule out the presence of tumors that can cause the condition. A brain MRI is usually recommended.

• Genetic Testing: Tests are done to find if the condition is inherited. It provides details on some mutations that would have happened.

How Is Dystonia Treated?

The treatment for dystonia depends upon the cause and symptoms. Currently, there is no complete cure for the condition. However, the symptoms can be managed by treatment.

• Botulin Toxin: Botox prevents the release of the neurotransmitter acetylcholine, which causes muscle spasms. They need to be repeated every three months.

• Dopaminergic Agents: It boosts or lowers dopamine levels, which can also influence movements.

• Anticholinergic Drugs: They block the release of acetylcholine, thereby reducing muscle spasms.

• Muscle Relaxants: Drugs like Diazepam can be used but causes sedation.

Physiotherapy and occupational therapy may help in some cases. Some cases might require a surgical procedure called ‘deep brain stimulation'.

Conclusion:

Dystonia affects different people in different ways. The severity can vary from one person to another. It is usually a life-long procedure that can affect daily living. It may improve, stay as it is, or worsen with time. It is a neural condition that cannot be diagnosed or managed without medical help. Avoiding or limiting caffeine, alcohol, smoking, etc., helps to prevent worsening the condition. Eye and ear infections must be treated appropriately to prevent their spread to the brain.