Dystonia Treatment in Mumbai, India

Dystonia is a group of neuromuscular disorders characterized by excessive involuntary movements of muscles leading to abnormal postures. Patients who suffer from dystonia experience uncontrollable twisting and repetitive movements that sustain from a few minutes to hours, causing pain and discomfort.

The pain becomes more intense if a person tries to perform a voluntary action. Dystonia may affect a single muscle, group of muscles, or entire body, depending upon the underlying issue.

Associated Anatomy

Brain and muscles of the body.

Dystonia Symptoms

The signs and symptoms of dystonia vary according to the target organs. Some common features of dystonia are:

• spasms and painful involuntary movements
• repetitive and jerky movements
• abnormal posture
• leg dragging
• tremors (may or may not be present).

Different kinds of dystonia show specific signs and symptoms.

• Cervical Dystonia: It is one of the more commonly occurring dystonias, causing neck muscles to twist to one side. The chin tilts towards the shoulder, causing abnormal head movement.
• Blepharospasm: It is an uncontrollable twitching of the eye muscles leading to excessive blinking accompanied by other distorted facial movements
• Dopa Responsive Dystonia: It usually occurs in childhood. This type of dystonia is accompanied by upwards and inward movement of feet, known as club feet. It affects limb movements while walking and running. It also causes depression and sleep disorders. It is relieved by taking the drug levodopa.
• Laryngeal Dystonia: It causes spasms in the larynx and vocal cords leading to the inability to speak.
• Oro-mandibular Dystonia: It causes spasms in the mouth and jaw muscles accompanied by drooling, slurred speech, and problems swallowing.
• Task-Specific Dystonia: It occurs in specific muscle groups involved in specific tasks, such as writer's cramps, which affect the muscles of hands and wrist, and musician dystonia, which causes spasms of fingers.
• Paroxysmal Dystonia: It occurs in any part of the body and resembles seizures. Sudden twisting of muscles of hands, arms, and face occurs.
• Myoclonic Dystonia or Muscle Jerk Dystonia: It causes sudden spasms or jerks in the limbs or torso, causing distorted body posture.
• Tardive Dystonia: It usually occurs in people using antipsychotic medicines. Its symptoms involve protruding of the tongue, excessive blinking of eyes, lip-puckering, and excess movements of limbs and fingers.

Dystonia Causes

The exact cause of dystonia is still unknown. Some dystonias are genetic in origin, and others occur over the lifetime (acquired). Any pathological problem in the basal ganglia can cause a disturbance that can lead to abnormal muscle movements.

Some other underlying causes of dystonia are:

• X-linked Dystonia Parkinson's Disease: A rare inherited disorder that occurs after 3rd decade of life causes this dystonia.
• Brain Stroke: lack of oxygen to the brain due to blockage in blood supply
• Wilson Disease: Wilson Disease occurs due to excess copper in the body that causes tremors and muscle stiffness in the body.
• Huntington’s Disease: Huntington's Disease a neurological condition causing uncontrollable movements, lack of coordination, and problems in swallowing and eating.
• Other Causes: any injury to the brain during birth, brain infections like meningitis and encephalitis, poisoning with heavy metals like lead, cyanide, disulfiram, carbon monoxide poisoning, etc.

Dystonia Types

According to the body distribution, dystonia is classified into five types.

• Generalized Dystonia: affects the whole body.
• Focal dystonia: impacts a specific part of the body, e.g. blepharospasm, writer’s cramp, etc.
• Multifocal Dystonia: involves more than one part of the body from different areas.
• Segmental Dystonia: involves adjacent areas of the body.
• Hemidystonia: affects only one side of the whole body.

Dystonia Tests

There is no single test to diagnose dystonia. For primary dystonia or dystonia occurring in childhood, Genetic testing for DYT1 and DYT6 testing can be done. Electromyography can be used to diagnose the abnormal electrical activity of the nerves and muscles. Along with that, neuroimaging can be done to check for any brain lesions for diagnosing dystonia.

Dystonia Treatment

The dystonia treatment modality varies according to the degree of severity and type of dystonia. The aim of the dystonia treatment is to relieve unnecessary muscular contractions and improve the patient's quality of life.

Medication

Botulinum toxin, commonly known as Botox, is injected into the affected muscle to relieve uncontrollable and shaky contractions. It works by blocking the release of excess acetylcholine, a neurotransmitter that causes muscle movements.

Other medications include

• Baclofen: it is taken to alleviate spasms and relax the muscles.
• Benzodiazepines like diazepam or clonazepam: to reduce stress and relax muscles.
• Dopaminergic drugs like levodopa can be used in dopa-responsive dystonia.
• Anticholinergic drugs like atropine can counter the excess effect of acetylcholine.

Surgical

• Selective Peripheral Denervation: In selective peripheral denervation, some nerves are removed at a neural conduction junction to counter the effect of hyperexcitability of nerve conduction.
• Pallidal Deep Brain Stimulation (DBS): In this technique, electrodes are inserted into the brain and chest that helps in blocking out abnormal nerve stimulation generated by over-excited neurons

Alternate Dystonia Treatments

• Physiotherapy is employed to mobilize muscles, relieve contractions and improve posture.
• Specific therapies like constraint-induced movement therapy should be done for dystonias occurring on hand.
• Biofeedback is combined with relaxation techniques to better control the movement of involuntary muscles.

Dystonia Diagnosis

Dystonia takes a long time to be diagnosed. The doctors take the medical history and conduct a physical examination to assess abnormal postures and movements. After that, some tests are done to confirm the diagnoses which are

• Blood profile and cerebrospinal fluid tests
• Neuroimaging: Electromyography (EMG) and EEG (Electroencephalography)

Dystonia Prevention

Different therapies can be used to prevent the severity and frequency of involuntary movements occurring in dystonia:

• Sensory Stimulation (Geste Antagoniste): This is done by touching certain body parts like the neck or chin to counter the effect of dystonia.
• Hot and Cold Compression: This can help reduce pain and spasms in the affected part.

Prognosis

Expected Prognosis

If dystonias occur in childhood, then it spreads to other body parts. Adult-onset dystonia remains confined to one part or area of the body. The severity varies from person to person. However, if treatment is taken in earlier stages, better outcomes are expected in patients with this condition.

Natural Progression

Dystonia progression varies in different people. In some cases, the severity of symptoms remains mild, from tremors to mild stiffness. In some patients, severe painful involuntary movements occur, leading to postural deformity.

Dystonia Risk Factors

• Age: Dystonia can occur at any age. However, dystonia occurring in childhood is more common.
• Drugs: Some anti-psychotropic drugs are known to cause dystonia.
• Family history: Dystonia is hereditary, and the chance of developing this condition in the future is more if any parent or immediate relative carries this condition.
• Injury during birth: Any head injury during childbirth can induce dystonia later.

Dystonia Complications

If left undiagnosed and untreated, dystonias can cause permanent damage to affected muscles in due course of time and other issues like:

• permanent deformity of the affected muscles
• difficulty in swallowing and chewing
• unable to perform day-to-day activities if dystonia sustains for a long time
• depression
• difficulty in vision

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