Dystonia Treatment and Deep Brain Stimulation: Promising Solutions

Dystonia treatment and deep brain stimulation (DBS) are modern medical approaches that open a new window of life for patients suffering from movement disorders, where involuntary muscle contractions severely reduce the quality of life. Particularly in pediatric dystonia cases where medication falls short, deep brain stimulation steps in, allowing patients to regain independent movement and live a pain-free life. With accurate diagnosis and a multidisciplinary surgical intervention, it is possible to achieve promising results even in the most challenging cases.

At a glance:

• Dystonia is a condition characterised by involuntary and repetitive muscle contractions caused by the brain sending incorrect signals to the muscles.
• In children, dystonia usually develops due to genetic factors or brain damage, such as a lack of oxygen during birth.
• Deep brain stimulation (DBS) is one of the most effective methods for severe cases where medication is insufficient.
• DBS controls contractions by regulating abnormal signals through electrodes placed in the brain's movement centre.
• Istanbul's deep brain stimulation centres offer hope to both local and international patients with their advanced technology and expert teams.

What is Dystonia?

Dystonia is a neurological movement disorder that causes muscles to contract involuntarily, leading to twisting and abnormal postures. It stems from a dysfunction in the basal ganglia, a region at the base of the brain responsible for coordinating movements. Instead of sending relaxation signals to the muscles, the brain sends contraction signals, causing uncontrollable movements in specific parts or the entire body.

If this condition affects only one part of the body, it is called focal dystonia; if it affects two or more adjacent areas, it is segmental dystonia; and if it affects the entire body, it is known as generalised dystonia. The generalised form, in particular, can make it impossible for a patient to perform daily life activities independently. Pediatric dystonia cases often begin at an early age and tend to progress over time. Therefore, planning the right treatment in the early stages is of great importance for the child's physical and psychological development.

Causes and Risk Factors of Dystonia

Although the exact cause of dystonia cannot always be determined, the medical world generally divides this condition into two main categories: primary and secondary. In primary dystonias, there is no underlying neurological disease or brain damage; the problem usually stems from genetic mutations. This genetic transmission is more frequently observed in individuals with a family history of dystonia.

Secondary dystonias, on the other hand, occur as a result of specific damage to the brain. Conditions such as oxygen deprivation during birth (hypoxia), carbon monoxide poisoning, severe brain trauma, infections like meningitis, or the side effects of certain heavy medications can pave the way for this condition. Especially in secondary generalised dystonia cases, the extent of the brain damage directly affects the severity of the contractions. Age is also a determining factor in the course of the disease; dystonias starting in childhood are usually linked to genetic or congenital traumas, while those beginning in adulthood tend to remain more focal (regional).

What Are the Symptoms of Dystonia?

Dystonia symptoms vary widely depending on the type and severity of the disease, as well as the patient's age. In the initial stages, symptoms are usually mild and may only appear during stress, fatigue, or specific physical activities. Over time, however, these involuntary movements can become permanent, bothering the patient even while resting.

In the advanced stages of the disease, the contractions can become so severe that permanent deformities may occur in the patient's joints. The most common symptoms include:

• Involuntary pulling or turning of the neck to one side (cervical dystonia).
• Cramps and contractions in the hand during fine motor skills like writing or eating.
• Dragging one leg or the foot turning inward while walking.
• Involuntary and tight closing of the eyelids (blepharospasm).
• Difficulty speaking or swallowing, trembling, or hoarseness in the voice.
• Severe and painful muscle spasms affecting the entire body, bending the arms and legs backwards.

Diagnosis: How Is It Diagnosed in the Hospital?

Diagnosing dystonia primarily begins with a detailed clinical evaluation by a specialist neurologist or neurosurgeon. Your doctor will ask when the involuntary movements started, which areas they affect, and whether there is a similar condition in your family. During the physical examination, muscle tone, reflexes, and mobility are carefully assessed.

Various tests are used to support the clinical examination and rule out other underlying diseases. Magnetic Resonance Imaging (MRI) is a standard procedure to check for conditions like tumours, structural abnormalities, or strokes in the brain. For more information on the role of early diagnosis in protecting brain health, you can also read our article titled The Importance of First Response in Stroke Treatment for Brain Health. Additionally, Electromyography (EMG) is requested to measure the electrical activity of the muscles, and genetic blood tests are ordered if a genetic-origin dystonia is suspected.

Treatment and How Deep Brain Stimulation (DBS) Is Applied

Dystonia treatment is planned in a step-by-step manner according to the severity of the patient's complaints and the extent of the disease. In mild cases, muscle relaxants and anticholinergic medications are used to try and control the contractions. For focal dystonias, botulinum toxin (Botox) injections are highly effective in stopping spasms by temporarily weakening the targeted muscle. However, surgical intervention comes to the forefront in generalised dystonia cases where medication is insufficient or cannot be used due to side effects.

Deep brain stimulation (DBS), commonly known as a brain pacemaker surgery, is the most effective surgical method offered by modern medicine. In this procedure, fine electrodes are placed with millimetric precision into the basal ganglia region, which controls movements in the brain. These electrodes are connected via a cable passed under the skin to a battery (neurostimulator) device placed in the chest area (under the collarbone). The battery sends continuous and regular electrical signals to the relevant area of the brain, suppressing the abnormal brain activity that causes dystonia.

After the surgery, the battery settings are custom-programmed from the outside using a computer, depending on the patient's clinical condition. It may take a little longer for the brain pacemaker to show its maximum benefit in dystonia patients compared to Parkinson's disease; seeing the full effect usually takes a few months. However, with proper patient selection and successful surgery, a dramatic improvement in the patients' quality of life is achieved.

A Treatment Journey from Russia to Türkiye

Reaching the right centre and experienced physicians is vital in advanced dystonia cases. The story of 13-year-old Iunuz Amın Teboev, the son of Khavazh Teboev and Lema Katıeva living in the Republic of Ingushetia, Russia, is one of the most striking examples of this challenging process. The family searched for a cure for years for their young son, who experienced severe contractions due to secondary generalised dystonia, had his arms and legs bent backwards, and even had difficulty speaking. After undergoing baclofen pump surgery twice in Russia, his contractions continued. At the point where doctors said, "There is nothing left to do," the family came to Türkiye with one last hope.

The patient's file was meticulously examined in the BHT Clinic Neurosurgery department. Following detailed evaluations, it was decided to apply deep brain stimulation to 13-year-old Iunuz. Assoc. Prof. Dr. Mustafa Kılıç, who successfully performed the operation, summarises the process with these words: "When our patient came to us, he had painful contractions affecting his entire body, reducing his quality of life to zero. We removed the old and non-functional pump and performed a deep brain stimulation surgery. Even just two weeks after the operation, our patient's dystonia and painful contractions decreased significantly, and almost all of the symptoms began to improve."

Although Assoc. Prof. Dr. Kılıç notes that it can take up to 6 months for the deep brain stimulation to fully settle in dystonia patients, he emphasises that achieving this result in such a short time made both the team and the family very happy. Watching his child suffer for years, father Khavazh Teboev says, "Our son even stayed in intensive care. Our lives changed after coming to Türkiye and meeting Dr. Mustafa. I will pray for our doctor for the rest of my life," while mother Lema Katıeva expresses her feelings with tears of joy, saying, "They gave my child a new life."

Complications and Risk Groups

When left untreated, dystonia leads to serious complications not only physically but also psychologically and socially. Continuous severe contractions can cause permanent stiffening in the joints called contractures, severe chronic pain, and spinal curvatures over time. The patient may become unable to meet even the most basic daily needs such as walking, eating, and dressing. This state of dependency increases the risk of severe depression and social isolation, especially in adolescent children and young adults.

While deep brain stimulation surgery is generally a highly reliable procedure, like any surgical intervention, it carries a low rate of risks such as infection, bleeding, or technical issues related to the device (cable breakage, battery displacement). Therefore, it is of utmost importance that the operation is performed in a well-equipped hospital by surgical teams with specific experience in this field.

When to See a Doctor?

When you notice inexplicable, uncontrollable muscle movements in your body or your child's, you should consult a neurology or neurosurgery specialist without delay. Early intervention plays a key role in slowing the progression of the disease and preserving the quality of life. Medical evaluation is essential if you observe any of the following symptoms:

• Involuntary contractions and twisting in the neck, arms, or legs.
• Cramps that increase during movement and decrease while resting.
• A sudden deterioration in speech or difficulty swallowing.
• Severe joint and muscle pains accompanying the contractions.

If muscle spasms suddenly intensify, completely preventing breathing or swallowing, this is a medical emergency, and you should immediately call 112 or go to the nearest emergency room.

The Process at BHT CLINIC

At BHT CLINIC İstanbul Tema Hastanesi, the treatment of dystonia and movement disorders is carried out at international standards and with a multidisciplinary approach. When our patients apply to our hospital, they are evaluated by a council consisting of neurology, neurosurgery, and physical therapy and rehabilitation specialists. With our 24/7 emergency department and fully equipped intensive care units, we can instantly respond to any neurological emergency.

Especially in cases where severe contractions occur, such as generalised dystonia, and the patient remains bedridden for a long time, there may be a risk of skin integrity deterioration. In such situations, our Dermatology specialists also actively support the treatment process to protect our patients' skin health and prevent possible bedsores. To regain your health and get an opinion from our expert physicians, you can easily book an appointment through our website.

Frequently Asked Questions

Is dystonia completely curable?

Dystonia is a chronic condition, and there is no definitive cure that eliminates it entirely. However, with methods such as medication, Botox injections, and deep brain stimulation surgery, symptoms can be largely controlled, allowing the patient to lead a normal life.

How long does deep brain stimulation surgery take?

Deep brain stimulation surgeries generally take between 4 to 6 hours. A large part of the procedure involves precise measurements and tests to find the exact target point in the brain.

Can deep brain stimulation be applied to children?

Yes, deep brain stimulation surgery can be safely applied to children, especially in severe genetic or secondary dystonia cases that do not respond to medication. Interventions at an early age are highly effective in preventing permanent joint deformities.

What should be considered after a brain pacemaker is implanted?

Patients must avoid strong magnetic fields (for example, security detectors or standard MRI machines). Although MRI-compatible brain pacemakers are used today, the physician must be informed before any radiological procedure.

Can dystonia patients lead a normal life?

Following accurate diagnosis and appropriate treatment planning (especially a successful deep brain stimulation application), the vast majority of patients can perform their daily tasks independently, go to school or work, and lead an independent life.

This article is for informational purposes only; please consult your physician for diagnosis and treatment.