Dystonia. Symptoms, Causes, Modern Treatment

History of the Name

Term “dystonia “ was proposed by Hermann Oppenheim in 1911, but mentions of cervical dystonia were found in literature from the Roman Empire era. In the 1960s, a psychoanalytic approach to determining the etiology of dystonias was popular, based on Freud’s ideas about the “unconscious” transforming into physical symptoms. A breakthrough in understanding the causes of the disease occurred after the publication of David Marsden’s works in the 1970s-1980s, where dystonia was defined as a movement disorder caused by basal ganglia dysfunction. ²

Causes and Possible Risk Factors dystonias

1. Genetic factors, especially in familial inheritance patterns. Hereditary dystonias include:
2. Early-onset dystonia
3. Isolated (primary) cervical dystonia
4. DOPA-responsive dystonias
5. Myoclonus-dystonia
6. Paroxysmal dystonias/dyskinesias
7. Rapid-onset dystonia-parkinsonism
8. X-linked dystonia-parkinsonism
9. Environmental factors. Their role in the development of the disease continues to be studied.
10. Structural pathology of the central nervous system (basal ganglia, cerebellum, motor and sensory areas of the cerebral cortex) resulting from injuries, use of certain medications, cerebrovascular accidents, tumor lesions, etc., leading to impaired inhibition processes, abnormal neuronal plasticity, and sensorimotor dysfunction ³
11. Diseases of other body systems. Dystonia may be associated with the development of vascular diseases, infections, metabolic disorders, etc.

Early Signs of Dystonia ³

1. The appearance of involuntary movements causing changes in the usual nature of movements and posture
2. Excessive eye blinking
3. Voice and speech changes (poor articulation, indistinctness)
4. Muscle spasms in the legs or arms

Symptoms of dystonia ³

In the clinical picture of dystonias, motor (movement) and non-motor (not related to the motor sphere) symptoms are distinguished.

Motor symptoms of dystonia:

Dystonia has diverse movement manifestations , since different parts of the body (eyelids, face, jaw, neck, vocal cords, torso, limbs) are involved in the formation of symptoms in patients. Movement disorders of the dystonia type are characterized by patterns and repetition at certain intervals. Patterns may resemble tremor. When dystonia affects only one part of the body, it is called focal. Segmental dystonia affects two or more interconnected body areas (e.g., neck, shoulder, and arm). If two or more anatomically unrelated areas are affected, it is called multifocal dystonia (e.g., eyes and vocal cords). Motor symptoms may occur in isolation on one side of the body—hemidystonia. In generalized forms involving many areas of the torso, movements resemble twisting or bending, described as “torsion dystonia.” Often, motor symptoms appear and intensify only when performing certain tasks, and a deliberate attempt to perform an action may lead to the opposite side. In some cases, certain tactile stimuli (so-called sensory tricks) help reduce the severity of motor symptoms.

Motor symptoms may appear episodically and last for several minutes or hours – this type of dystonia is called paroxysmal, or dyskinesia.

Non-motor symptoms of dystonia

1. Emotional Disorders (Anxiety, Depressive Disorder)
2. Social Anxiety Disorder
3. Cognitive impairments. It should be noted that some medications for dystonia can cause cognitive spectrum disorders (particularly memory impairments), which is why it is important to assess the symptom dynamically, in conjunction with other factors.
4. Attention disorders (weakening of attention – hypoprosexia)
5. Sleep problems
6. A feeling of inexplicable fatigue
7. Pain, more often associated with excessive movement and unfamiliar posture
8. Sensory disturbances. For example, patients with pronounced blepharospasm may complain of increased sensitivity to light.

Diagnosis of Dystonia ⁴

• The diagnosis is based on clinical research data (uncharacteristic for a person, unnatural and involuntary postures (with or without tremor), excessive mirror movements, use of corrective gestures)
• There are no specific laboratory and instrumental methods for confirming the diagnosis, but they can be used for differential diagnosis. Neuroimaging methods (CT, MRI) can be useful for patients suspected of having structural pathology.
• A trial of levodopa therapy is justified in early-onset dystonia of unspecified cause.
• DaT scan (visualization of striatal dopamine transporters using single-photon emission computed tomography allows for reliable differentiation between DOPA-responsive dystonia and early-onset Parkinson’s disease with dystonia symptoms
• Genetic testing is recommended after establishing a clinical diagnosis.
• Testing for DYT1: patients with primary dystonia with onset before the age of 30, as well as subjects with a family history of early cases of dystonia
• Testing for DYT6: early onset, family cases of cranio-cervical dystonia, or after excluding polymorphisms DYT1.
• Testing for DYT11: early myoclonus

Treatment of Dystonia ^3,5

There are effective treatment methods that can reduce the severity of symptoms, but it is impossible to completely cure dystonia. These include:

Medication Therapy dystonias

1. Anticholinergic drugs (Trihexyphenidyl, benztropine, biperiden, scopolamine). Side effects: pronounced sedative effect, impaired thinking, constipation, urinary retention, anxiety, insomnia, vision impairment, dry mouth
2. Benzodiazepines (Chlordiazepoxide, Diazepam, Lorazepam, Clonazepam). Side effects: pronounced sedative effect, impaired thinking or coordination, depression. There is a risk of dependence and tachyphylaxis. Abrupt discontinuation or rapid dose reduction may lead to delusional disorder and seizures.
3. GABA receptor agonists (Baclofen). Side effects: pronounced sedative effect, nausea, altered consciousness, dizziness, loss of muscle tone. Abrupt discontinuation or rapid dose reduction may lead to delirium and seizures.
4. Dopaminergic influence activators (Levodopa, Bromocriptine). Their use can alleviate symptoms in DOPA-responsive dystonia.
5. Dopaminergic influence blockers (Fluphenazine, Haloperidol, Risperidone, Clozapine). Side effects: tardive dyskinesia, pronounced sedative effect, drooling, agranulocytosis
6. Tetrabenazine. Depletes dopamine stores in neurons, reduces dopaminergic transmission in the basal ganglia. Side effects: pronounced sedative effect, drug-induced parkinsonism, impaired thinking, depression, insomnia.
7. Muscle relaxants (Tizanidine, Carisoprodol)

Botulinum toxin injections . Frequency of administration – once every 3-4 months. Side effects: temporary in nature and include muscle weakness, flu-like symptoms, pain at the injection site, and dry mouth.

Surgical Methods treatment of dystonia

1. Deep brain stimulation ( Deep Brain Stimulation, DBS) – a surgical treatment method involving the implantation of a neurostimulator—a special medical device—into the brain. The disadvantages of this operation include invasiveness (electrodes must be lowered to the target point, piercing brain tissue, which causes irreversible fibrotic changes), the likelihood of infection penetrating the brain via the electrodes with the risk of developing a brain abscess or encephalitis. In some cases, anatomical features do not allow precise targeting, and electrical stimulation after surgery does not suppress movement symptoms. Wearing a neurostimulator under the skin and electrodes in the brain causes significant discomfort, and maintaining this equipment in working condition (stimulator adjustment, battery replacement) is economically costly.
2. Selective peripheral denervation is a surgical method of isolating and treating nerve fibers that innervate affected muscles.
3. Selective denervation of laryngeal nerves and thyroplasty of the thyroid cartilage of the larynx have demonstrated high clinical efficacy in laryngeal dystonia. Side effects most often resolve in the early postoperative period and include temporary shortness of breath and difficulty swallowing.
4. Selective myectomy involves the targeted excision of muscle fibers of the eyelids and eyebrows for the treatment of blepharospasm.
5. Intrathecal baclofen therapy (administration of baclofen under the membranes of the spinal cord). Side effects: muscle weakness, fatigue, constipation, disruption of the integrity of the membranes and spinal cord.
6. Invasive thalamotomy and pallidotomy. Types of brain surgery in which certain nuclei of the thalamus and globus pallidus are destroyed. The method is invasive, which increases the risk of intra- and postoperative complications.
7. Treatment with MRI-guided focused ultrasound (MRgFUS, MRgFUS). Focused ultrasound waves heat a point in the thalamus area and disrupt the nerve connections that provoke the motor symptoms of dystonia, while MRI helps target the correct brain area with millimeter precision. The distinctive feature of this method, setting it apart from all other approaches, is that doctors can ensure the targeting is correct: heating to low temperatures temporarily “disables” neurons for a few minutes, allowing them to check if the dystonia has subsided. Have any complications arisen? If the result is unsatisfactory, doctors shift the target point and recheck the symptoms. The previous point “revives” without any damage. Only after identifying the correct target point does the surgeon increase the ultrasound power to secure the achieved clinical effect. The non-invasive nature, reversibility of changes in the brain during initial impact on “target tissues,” and the absence of the need for anesthesia are advantages of choosing this surgical method. Unwanted clinical manifestations generally do not have a long-term impact on patients’ quality of life. Immediately after the procedure, there may be instability in walking, sensations of tingling, numbness, or incoherent speech. These manifestations typically resolve on their own within the first days or months of the postoperative period as the natural fluid exchange in brain tissues recovers.
8. Non-pharmacological therapy
9. Physiotherapy
10. Voice therapy (effective for spasmodic dysphonia against the background of laryngeal dystonia)

Rehabilitation

Rehabilitation is an important part of treating dystonia, as it can significantly improve the patient’s quality of life, prevent the development of muscle and joint contractures, support functional status, and maintain range of motion in the joints. The V.S. Buzaev International Medical Centre has created a Community for patients with Parkinson’s disease “Semitsvetik “, participation in which will be beneficial for individuals with various forms of dystonia—movement disorders similar to Parkinson’s disease. Its goal is the motor and social rehabilitation of patients who have encountered these conditions

Forecast ³

Dystonias generally do not shorten life expectancy and are not conditions that directly lead to death. In very severe forms of generalized dystonia, secondary problems related to dystonia may arise, which can cause life-threatening conditions: in rare cases, increasingly frequent and intense episodes develop—dystonic status, which may contribute to swallowing or breathing difficulties. In such cases, it may be necessary to call an emergency team.

Dystonia can be a separate symptom of neurodegenerative diseases, which may affect life expectancy, but isolated dystonia does not lead to this.

In rare cases, spontaneous remission may occur; however, in these situations, the risk of recurrence of clinical symptoms remains high.

How is this material searched on the Internet : Dystonia, causes; Dystonia, why it is not treated; Dystonia, how it manifests; Dystonia, types; Cervical dystonia, treatment; How to relieve symptoms of muscle dystonia; What is deforming muscle dystonia; Muscle dystonia, consequences.

References:

1. International Parkinson and Movement Disorder Society. Dystonia: Clinical Overview.
2. Rachel E. Newby et al. A History of Dystonia: Ancient to Modern / Mov Disord Clin Pract. // 2017 – Vol. 4(4) – P.478–485.
3. Dystonia Medical Research Foundation.
4. EFNS MDS-ES Task Force. Guidelines for the diagnosis and treatment of primary (idiopathic) dystonia.
5. American Academy of Neurology. Treatment Strategies for Dystonia: Medical and surgical treatment strategies (2013).

Video on the Diagnosis and Treatment of Dystonia
at the V.S. Buzaev Centre

Dystonia. Explained by PhD, neurosurgeon at the International Medical Centre
V.S. Buzaev®, Rezida Maratovna Galimova.

Dystonias. Causes of Development

Acquired dystonias

Focused ultrasound against dystonia. Patient of the V.S. Buzaev Centre.

Cervical dystonia (symptoms) can only be treated in Japan and Russia, at the V.S. Buzaev Clinic.

Focused Ultrasound Against Dystonia. Patient of the V.S. Buzaev Centre.

Read more

1. See the link research review of global experience on the treatment of dystonia using focused ultrasound, published in 2024, and our experience in the field of dystonias.
2. Our article in a leading research journal, where we, together with the world-renowned neurologist and expert in movement disorders, Academician Sergey Nikolaevich Illarioshkin, published the results of the first surgeries. https://annaly-nevrologii.com/journal/files/journals/1/articles/1020/public/1020-34291-1-PB.pdf We observe patients for at least a year and analyze the long-term results of each surgery. We are currently preparing a new publication.