Dystonia

Dystonia

It is a neurological syndrome characterized by a continuous, often repetitive, involuntary contraction of muscles in a certain direction and abnormal posture.

It affects one or more body parts. Abnormal posture and curl movement can be painful.

They usually increase voluntarily. Contractions that occur during repetitive movement of the hand, forearm, or a part of the body (printer cramps, playing musical instruments, playing golf) are called work-related dystonia.

Dystonia may vary with posture changes. It increases with stress and fatigue and disappears while resting and sleeping.

Classification

The age of onset is classified according to etiology and anatomical localization.

Classification by age of onset:

  • Infantile dystonia. Starts before the age of 2.
  • Childhood dystonia. Starts between the ages of 2-12.
  • Juvenile dystonia. Starts between the ages of 13-20.
  • Adult dystonia. Starts after the age of 20.

Etiological classification:

Dystonia of unknown origin may be genetic. Hereditary childhood-onset dystonia is particularly prevalent among Ashkenazi Jews.

Anatomical classification:

  • Focal dystonia. One body part is involved. The most common is cervical dystonia or torticollis.
  • Segmental dystonia. Affects 2 or more adjacent regions.
  • Multifocal dystonia. Dystonia of non-adjacent body parts.
  • Generalized dystonia. Includes body, arms and legs.
  • Hemidystonia. It is also called unilateral dystonia.

Common Dystonia Types:

Cervical Dystonia

Cervical dystonia (torticollis) is the most common focal dystonia. It starts quietly at the age of 30-50. It mostly affects women.

Intermittent spasm of the neck muscles or abnormal head movements occur due to contraction of the sternocleidomastoid, trapezoidal and posterior cervical muscles. Dizziness (rotational torticollis) occur toward back, front or side directions in the form of a pattern of repetitive and spasmodic movements. Depression or anxiety may occur.

Dystonia of the upper extremity

It is the cramping and posture of the wrist, hands and fingers which led to failure of performing some professional activities. The age of onset is 10-50 years, and men and women are equally affected.

In work-specific dystonia which can be triggered by repetitive activities such as typing and playing a musical instrument, hyperextension or hyperflexion in the wrist and fingers occur. Spasm disappears when the job is stopped. Torticollis, tremor and pain are accompanying symptoms.

Lower extremity dystonia

It is not common in adults. It may occur in stroke and dystonia-parkinsonism syndrome. It causes painful position and gait disturbance in the leg.

Oromandibular and Lingual Dystonia

Oromandibular, facial and lingual dystonia are found in groups. Cranial dystonia is known as Meige syndrome.

Dystonia muscularis deformance (Torsion dystonia)

It is a generalized form of dystonia involving the trunk and extremities. It may begin in childhood or adolescence.

The severity and frequency of the disease progresses to the continuous spasm of the body in the form of bending and twisting. Spasms that initially heal with rest are not affected by rest as the disease progresses. Shoulder, trunk and pelvic muscles and extremities show spasmodic curl. Hands are rarely affected. If the orofacial muscles are involved, it results in dysarthria and dysphagia.

Tardive dyskinesia (dystonia)

Tardive dyskinesia is a common complication caused by long-term use of antipsychotic drugs, a dopamine receptor antagonist. Tardive dyskinesia causes abnormal choreoathetoid movements in the face and mouth in adults and extremities in children.

ETIOLOGY

Depending on the involvement of the basal ganglia, different forms of dystonia occur. Unilateral putamen lesions cause hemidystonia and bilateral lesions cause generalized dystonia. Torticollis and hand dystonia are thought to arise from the involvement of the caudate nucleus head and thalamus.

44% of patients with dystonia have similar or other movement disorders in their families.

Dystonia can be a clinical symptom of many curable neurological diseases. Therefore, Wilson's disease, hypoxic brain injury, traumatic brain injury, Huntington's disease, Leigh's disease, lipid storage disease and Parkinson's disease should be reviewed.

Drugs that can cause acute dystonic movements should also be considered. Brain MRI and CT should be performed in children. The determination of copper in the Kayser-Fleischer ring and 24-hour urine may be useful. Genetic DST gene anomalies should be investigated in primary dystonias starting before the age of 30 and for those who have relatives with dystonia.

TREATMENT:

Rehabilitation

As in most movement disorders, dystonia is affected by fatigue, anxiety, relaxation or sleep. Therefore, paying attention to general health, the environment and stress factors may make dystonia more easily treatable.

Dystonic movements can often be triggered or exacerbated by voluntary movements of the same or other body parts. Involuntary movements can be suppressed temporarily with the contact stimulus.

Respiratory assisted inhibition pattern can be applied.

PNF rhythmic stabilization. The rhythmic stabilization time should be chosen according to the benefit.

As stress and anxiety increase dystonic movements, psychological analysis and therapy are also beneficial.

Some dystonic movements take seconds and minutes, while others continue for hours and patients. This can lead to permanent contractures, bone deformities and significant dysfunction. Utilizing devices for the upper and lower extremities can help prevent deformities by supporting, reducing, or stabilizing movements.

Massage, slow stretching, ultrasound and biofeedback may be useful in focal dystonia. Patients with generalized dystonia often benefit from gait and mobility training and the use of assistive devices.

Limited success has been achieved in symptomatic therapy from relaxation, sensory stimulation, biofeedback, TENS and percutaneous dorsal colon stimulation.

Occupational therapy is important in performing daily life activities.

Speech therapy may be required in oromandibular or laryngeal dystonia. Botulinum toxin injection can be used for difficulty in swallowing.

Training for regaining the occupation and occupational rehabilitation involving adaptation to the work place can help the patient.

Pharmacological Treatment

Drugs can control dystonic movements to some degree. Drugs taken systemically are useful in 1/3 of the patients. These include cholinergic, benzodiazepine, antiparkinsonism drugs, anticonvulsants, baclofen, carbamazepine and lithium.

The combination of several drugs is often necessary for successful drug treatment. The choice of combination is usually based on empirical experience and side effect profile. The dose should be gradually increased over several weeks and months until the therapeutic benefit is optimized, or side effects occur. Drugs should be tapered to prevent discontinuation symptoms.

Especially in some types of dystonia associated with spasticity, baclofen given intrathecally by an implanted pump can be very effective.

Neurochemolysis

Injection of botulinum toxins and phenol / alcohol is a powerful tool in the symptomatic treatment of focal dystonia. These injections temporarily reduce muscle contraction. Blepharospasm may be an elite treatment for cervical dystonia and hemifacial spasm. Botunilum toxin injection in the muscles reduces muscle contraction for about 3 months. The injection has no significant complications and may lead to dysphagia and dry mouth. In most patients, repeated injections may also be used effectively for years if necessary. The effect of nerve blocks with phenol and alcohol lasts about 6 months.

Deep Brain Stimulation

Wire is placed unilaterally or bilaterally in the target areas such as thalamus, subthalamic nuclei and globus pallidus.

Diseases & Treatments