Dystonia: Causes, Signs, Symptoms, Treatment, Types, Diagnosis

Dystonia is a movement disorder where there is uncontrollable contraction of a person’s muscles resulting in involuntarily twisting of the affected body part and abnormal postures or repetitive movements.¹ Dystonia can affect a muscle group or only one muscle or the entire body. Women are affected more from Dystonia than men.

Treatment for Dystonia comprises of Botox injections, deep brain stimulation, medications, sensory tricks, physiotherapy, speech therapy and stress management.

Symptoms of dystonia can be very mild to severe. As mentioned before, dystonia can affect different parts of the body and usually the symptoms of dystonia increase through stages. Early symptoms of this condition include:

• Patient has a “dragging leg.”
• Patient suffering from dystonia has involuntary pulling of the neck
• Patient experiences cramping of the foot
• Patient finds difficulty in speech
• Patient suffering from Dystonia experiences uncontrollable blinking
• Patient feels pain and is exhausted all the time due to repetitive muscle contractions in Dystonia.
• Stress and fatigue triggers the symptoms of Dystonia or worsens them.
• If dystonia symptoms occur during childhood, then they usually start to appear first in the hand or foot. However, they quickly move on to rest of the body. The progression of the symptoms usually slows down after adolescence.
• If dystonia symptoms appear in early adulthood, then they usually start in the upper body followed by slow progression of the symptoms. Dystonia which starts in early adulthood remains focal or segmental, i.e. they tend to affect only one body part or two or more adjacent parts of the body.

There is no specific cause found for majority of the cases of dystonia. The main cause seems to be related to a problem in the basal ganglia, which is the area of the brain that is responsible for initiation of the muscle contractions. The problem occurs when there is some disruption in the communication of the nerve cells. The cause of acquired dystonia is damage to the basal ganglia and this damage could occur from:

• Trauma/injury to the brain.
• Tumor.
• Stroke.
• Oxygen deprivation.
• Drug reactions.
• Infection.
• Lead or carbon monoxide poisoning.
• The cause of primary or idiopathic dystonia is usually inherited from a parent. There are some carriers of the disorder which alone do not develop dystonia.
• The symptoms of Dystonia differ among the members of the family.

Depending on the body part affected, Dystonia is classified as:

• Focal Dystonia: In this type of dystonia, only a specific body part is affected.²
• Generalized Dystonia: In this type of dystonia, the entire body or almost the complete body is affected.³
• Segmental Dystonia: In this type of dystonia, adjacent body parts are affected.
• Multifocal Dystonia: In this type of dystonia, more than one unrelated body part is affected.
• Hemidystonia: In this type of dystonia, the arm and leg on the same side of the body are affected.

Depending on the patterns, Dystonia can be classified as syndromes:

• Cervical Dystonia or Torticollis: This is the most common type of dystonia. Middle-aged individuals are commonly affected by cervical dystonia. In this type of dystonia, the muscles of the neck are affected resulting in twisting or turning of the head or the head is pulled backward or forward.⁴
• Blepharospasm: In this type of dystonia, the eyes are affected. It commonly starts with uncontrollable blinking. Initially only one eye is affected. Then gradually it progresses to both the eyes. The eyelids close involuntarily due to the spasms. Sometimes, the eyes remain closed due to the spasms. The patient can have normal vision; however, person patient becomes functionally blind due to closing of the eyelids.
• Oromandibular Dystonia: In this type of dystonia, there are spasms in the muscles of the lips, jaw and tongue. Due to this, the patient has problems with swallowing and speech.
• Cranial Dystonia: In this type of dystonia, the muscles of the face, head and neck are affected.
• Spasmodic Dystonia: In this type of dystonia, the muscles of the throat, which are responsible for speech, are affected.
• Tardive Dystonia: This type of dystonia occurs as a result of a reaction to a drug. The symptoms are usually temporary and subside with treatment.
• Paroxysmal Dystonia: This type of dystonia is episodic in nature. Patient experiences symptoms only during attacks; otherwise the patient remains normal.
• Torsion Dystonia: This is a rare type of dystonia and it affects the complete body resulting in severe disability in the patient. Symptoms commonly start in childhood and worsen as the patient grows older. According to research, torsion dystonia can be inherited and is caused by a gene DYT1 mutation.
• Writer’s Cramp: This is a type of dystonia in which the muscles of the hand and/or forearm are affected. This type of dystonia occurs only when writing.

The doctor will take a complete medical history and conduct a physical examination. Some of the tests done for diagnosing Dystonia include:

• Blood and urine tests, which can identify the presence of toxins.
• CT scan (Computerized Tomography) where a series of x-rays are taken to create a detailed 3-D picture of the brain.
• MRI (Magnetic Resonance Imaging) in which powerful radio waves and magnets are used to create a detailed view of the brain. This test is helpful in identifying tumors, lesions and other indicators of a stroke.
• EMG (Electromyography) is a test, which measures the electrical activity in the muscles.

There are different treatment options for dystonia. Treatment depends on the type and severity of the dystonia.

• Botox or xeomin (botulinum toxin) is a recently introduced treatment for Dystonia where the toxin is injected into the affected muscle where it blocks the effect of acetylcholine, which is a chemical that produces muscle contractions. However, this injection needs to be repeated every three months.
• Deep brain stimulation can be done in patients who have become severely disabled due to dystonia. In deep brain stimulation, there is an electrode which is implanted into a specific area of the brain. This electrode is connected to a battery powered stimulator which is implanted in the chest. The electrode then sends electrical pulses which are generated by the stimulator to the brain area to reduce the contractions of the muscles. Frequency and intensity of the electrical pulses are regulated by the patient’s doctor.
• Medications which help in reducing the impulses, which excessively contract the muscles include: Levodopa, diazepam, procyclidine hydrochloride, lorazepam, baclofen and clonazepam.
• Another treatment option is sensory trick where stimulation is applied to the affected or adjacent body part which helps in reducing muscle contractions. Just by touching this region, patients can control their own muscle contractions.
• Symptoms of dystonia can also be treated with physical therapy, speech therapy and management of stress.

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Also Read:

• Tardive Dystonia: Causes, Symptoms, Treatment, Diagnosis
• Vegetovascular Dystonia: Causes, Symptoms, Treatment