Dystonia – Types, Causes, Symptoms, and Diagnosis

What is Dystonia?

Dystonia is a disorder that causes involuntary contractions. These involuntary contractions can cause abnormal postures and slow movements that are usually repetitive. In some cases, dystonia causes severe symptoms like neurological tremors.

Dystonia symptoms can worsen depending upon a person’s activity and posture. It can occur as a pattern of over-flexion or over tension of the hand and feet, lateral flexion and retroflexion of the head and twisting of the back.

Dystonia can occur when a person is wide awake or during sleep. It can cause obvious fluctuations in movement, and the severity of the disorder can differ from one individual to another.

According to NCBI, dystonia is very common and the third most prevalent movement disorder after Parkinson’s, which affects approximately 5,00,000 adults and children. Additionally, women are more prone to the risk of dystonia than men.

Types of dystonia

Dystonia is commonly caused due to abnormalities in the brain region that controls movement. Neurotransmitters are a group of chemicals that help with the communication of the brain with other organs. When an abnormality occurs in brain function, it can cause dystonia.

Dystonia is divided into three types.

• Idiopathic dystonia

The cause of idiopathic dystonia is still unknown. According to research, idiopathic dystonia accounts for 62.3% of the total population.

• Genetic dystonia

Some dystonia can run in families. The symptoms within the family also vary, and the severity depends on the disorder. Mutated genes can lead to dystonia. In rare cases, individuals who inherit the defective gene will not develop dystonia.

Apart from mutation, other genetic and environmental factors can also lead to dystonia.

DYT1 dystonia

It is a rare form of dystonia which is inherited that is caused by a defect in the DYT1 gene. The disorder usually develops during childhood and affects the limbs first. The progression of the disability often leads to disability. However, in some cases, the mutation remains dominant.

Dopa-responsive dystonia

Dopa-responsive dystonia is also called Segawa’s disease, which is caused due to genetic reasons. The disease usually onsets during childhood, and the child will face difficulty walking.

The symptoms can fluctuate and worsen as the disorder progresses. Some conditions can be caused due to mutation in the DYT5 gene.

Acquired dystonia

Acquired dystonia is also called as secondary dystonia, which is caused due to environmental damage caused to the brain or certain medications.

Acquired dystonia can be caused during birth, infections, reactions to certain drugs, carbon monoxide poisoning, stroke and trauma.

Dystonia that occurs due to medication can be cured when the medication is stopped. In some cases, dystonia caused can be a symptom of other underlying conditions, and some can be hereditary.

Causes of dystonia

The cause of dystonia is mainly due to the dysfunction of the basal ganglia— structures in the brain that perform important connections. The basal ganglia manage the signals that the brain sends to the muscles—the reason why dystonia affects your movement.

According to NCBI, dystonia causes dysfunction in the central nervous system involved in motor control.

However, dystonia can occur to anyone, and in some cases, it can be age-related and can affect people at birth or in their childhood.

Dystonia is quite common among people, and experts believe that most cases can be underdiagnosed. The reason stated behind it is dystonia takes different forms, and the symptoms can also differ.

Symptoms of dystonia

The common symptom of dystonia is dysfunction of muscle movements or uncontrolled movements.

• Sudden electric shocks that can be painful and uncomfortable.
• Most actions will be repetitive, accompanied by tremors.
• Unusual twists and turns that give an unusual look.
• Twits and stretch that give an unusual pose.
• The affected muscles can worsen the pain.

Some of the commonly affected parts that can be dysfunctional are listed below.

• Neck
• Hand and forearms
• Jaws and tongues
• Eyelids
• The voice box and vocal cords

The different forms of dystonia are

Generalised dystonia

This type of dystonia affects the whole body.

Focal dystonia

Focal dystonia affects a localised or specific part of the body.

Multifocal dystonia

Multifocal dystonia causes dysfunction in two unrelated body parts.

Segmental dystonia

It affects the adjacent body parts.

Hemidystonia

When arms and hands on the same side of the body get affected, it is called hemidystonia.

Common body parts that are affected

• Neck (cervical dystonia)
• Eyelids
• Jaw or tongue (oromandibular dystonia)
• The voice box and vocal cords (laryngeal dystonia)
• Hand and forearm

Diagnosis of dystonia

Diagnosis of dystonia will depend on the symptoms. Initially, a neurological test will be done and depending on the results, other tests will be carried out.

Blood or urine tests

Blood tests will be carried out to test the presence of toxins. It can also detect the dysfunction of immune cells.

MRI or CT scan

If a person is affected with dystonia, neurodegeneration is a prominent feature. So the MRI of the brain, slit-lamp test, nerve conduction smear and lysosomal screening will be carried out.

Additionally, imaging studies can help determine haemorrhage, hypoxic damage and central lesions.

Electromyography (EMG)

Electromyography is used to evaluate the functions of the nerves and the muscles. When a person has symptoms like weakness or numbness, electromyography will be recommended by a healthcare professional.

Nerve conduction studies will be carried out by placing small discs on the skin. These discs will detect or record the nerve function. Electrical simulations will be applied to the skin to test the ability of the nerves to carry these signals.

If there is damage to the nerves, the electrical signal conduction will be prevented. These signals will be recorded, and the diagnosis will be made accordingly.

Follow these steps before going for an EMG test.

Wear loose-fitting clothes and avoid the usage of lotion and creams. These creams can affect the test results.

If you are under blood thinner medications, confess it to your healthcare provider. Blood thinners can increase bleeding. Do not stop or pause it on your own. Consult your doctor and follow their instructions.

Genetic testing

Genetic tests will help determine mutations. These mutations can run in families, which increases the risk in the future generation.

Treatment of dystonia

Dystonia can be treated with certain medications, and they are effective. However, there are no specific medications for dystonia. There are many alternative medications available.

Medications for dystonia

There are many drugs available to treat neurotransmission dysfunction.

Carbidopa-levodopa

These classes of drugs help increase the levels of dopamine. These drugs are currently subjected to trials to diagnose dystonia.

Trihexyphenidyl and benztropine

These drugs help increase other neurotransmitters other than dopamine.

Tetrabenazine (Xenazine) and deutetrabenazine (Austedo)

These medications are used to block dopamine.

Diazepam, clonazepam and baclofen

These medications help reduce the overproduction of neurotransmitters and help with the symptoms of dystonia.

Therapy for dystonia

Therapy will be suggested by healthcare professionals. Physical therapy will help to reduce the severity of the symptoms. Additionally, speech therapy will be administered if speech is affected. Stretching and massage will also be administered to reduce muscle pain.

Surgery

If the symptoms do not reduce with the administration of medications and other therapy, surgery will be suggested.

Deep brain stimulation

There will be implants in certain parts of the brain. These will help in the conduction of brain signals which can reduce muscle contractions.

Selective denervation surgery

Certain nerves that control muscle spasms will be disconnected. The selective peripheral denervation technique is a procedure used to remove the nerves that can make a muscle hyperactive.

Muscles become hyperactive or overactive due to metabolic disorders, excessive caffeine intake and vitamin deficiency. So selective denervation can help with dystonia in cases where the symptoms cannot be controlled.

Alternative medicine

There are no proven effects that alternative medicine can help with dystonia. However, with medication, they can reduce the side effects of drugs and can ease the symptoms of dystonia. Consult your doctor about the effectiveness of alternative medicines.

Meditation

Meditation and breathing exercises can help with symptoms of dystonia. It can reduce the pain and stress caused due to muscle spasms. Medication can be a good relaxation technique.

It is important to learn the techniques from a professional and perform them daily at home.

Biofeedback

Biofeedback is an alternative therapy to improve both physical and mental health. The professional will monitor the body’s function with certain instruments. With the help of the feedback received, the professional will suggest the changes required for a healthy life.

The sensor will help measure physiological signals like heart rate, muscle activity, sweat and breathing.

Yoga

Yoga can offer a wide range of benefits and reduce the pain caused due to dystonia. According to NCBI, research supports that yoga can be an effective alternative medicine to reduce neurological disorders.

However, it does not cure dystonia. Yoga can alleviate the symptoms. With the help of yoga, poor posture can be corrected and improves mobility.

Lifestyle and home remedies

Currently, there is no cure for dystonia. However, certain lifestyle changes and home remedies can help reduce the severity of the symptoms and cope with pain.

Sensory tricks to reduce spasms

Sensory tricks are procedures used to improve their symptoms and reduce the pain caused due to dystonia. This will also improve involuntary movements. These procedures will be carried out in episodes.

Heat or cold

Hot and cold packs can help reduce the pain caused due to muscle spasms.

Stress management

Stress can also affect the quality of life. So, learn to cope with stress and always seek help when required.

Complications

Dystonia can cause certain complications. Some of these are listed below.

Blurred vision can disturb routine life. Sometimes, people with dystonia might require help to carry out their daily activities.

There will be certain difficulties in speech, swallowing and jaw movement.

When to consult a doctor?

Consult your doctor if you have symptoms that are listed below.

• Muscle spasm.
• Pain spreads from the hands to other parts.
• Involuntary muscle contractions.
• Slurred speech.

Additionally, there can be certain restrictions to control the symptoms. Consumption of alcohol should be avoided as alcohol can interfere with medications.

However, different forms of dystonia can exhibit the same symptoms. So suddenly pausing or stopping the medication can worsen the symptoms of dystonia.

Conclusion

The cause of dystonia is not clearly known. And some types of dystonia can run in families.

Dystonia can also be indicative symptoms of other diseases or conditions like

• Parkinson’s disease
• Wilson’s disease
• Stroke
• Birth injury
• Brain tumour
• Infections like tuberculosis.

Dystonia can affect the quality of life and can interfere with routine life. So, if you suspect symptoms consider consulting your doctor immediately.

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