Dystonia in children
Dystonia is a movement disorder that affects at least 70,000 people in the UK, and in about a third of them, the disorder begins in childhood. The main clinical feature of dystonia is the incorrect position of the affected part of the body, caused by abnormal involuntary muscle activity.
Dystonia often occurs on the background of a specific task or action, for example, it can develop only at the time of writing.
The diagnosis of dystonia in children, as in adults, is mainly related to the assessment of the clinical picture, analysis of the history of life and the determination of predisposing factors. In general, with timely treatment, the patient's condition may improve, but sometimes recurrences of the disease are observed throughout life.
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Characteristics of dystonia in children
Dystonia in childhood is a movement disorder that causes involuntary muscle contractions. These muscle contractions lead to twisting, repetitive movements and the incorrect position of various parts of the body. Wrong movements and postures can be chronic or occur sporadically. Symptoms often vary depending on the position of the body, the specific tasks performed, the emotional state of the patient and the level of his consciousness.
The mechanism of development of dystonia is usually associated with a shift in the pathological contraction of an agonist and antagonist. This causes a rather agile abnormal posture combined with slow writhing movements, sometimes known as athetosis.
Dystonia may be relatively absent alone, but may manifest itself sharply during certain or even any actions. This specificity of the disease can also be determined when dystonia occurs during walking - it can be very difficult for the patient to go forward, but at the same time he moves backwards easily.
In some cases, is a positive touch reception. This is when a light touch to the affected part of the body can significantly improve its position. Pain or discomfort can occur due to muscle spasm, but such signs are usually not the dominant clinical feature.
Common problems for children with dystonia may look like this:
- Pain management
- Difficulties with daily tasks.
- Hand problems.
- Difficulty sitting
- Mobility problems.
- Trouble sleeping
- Communication problems.
Children with dystonia, especially the hereditary form of the disease, may have a higher level of anxiety and depression than other children in general.
The simplest classification of dystonia is based on the location of the affected part of the body.
- Dystonia is focal - only one part of the body is affected.
- Segmental dystonia - the disease affects two adjacent parts of the body.
- Hemidystonia - the pathological process is determined only on one side of the body.
- Generalized dystonia , if it affects several parts of the body, including the torso.
Dystonia affecting certain parts of the body is called blepharospasm (eyes) and torticollis / cervical dystonia (cervical).
A common classification of dystonia is based on the cause of the disease:
- Primary dystonia.
- Secondary dystonia.
- Degenerative dystonia.
In primary dystonia , a single clinical feature is determined, and other neurological and systemic manifestations are not found. Also, brain degeneration is often absent, but after about one year of progression of the disease dystonia can lead to disability.
Primary dystonia in children and adolescents almost always affects the extremities, and not the face, while in adults (over 45), face and neck dystonia is more often diagnosed.
In secondary dystonia, there is an external cause, such as stroke, traumatic brain injury, or exposure to certain drugs (drugs that block dopamine receptors).
With degenerative dystonia, there may be multiple neurological (and sometimes systemic) symptoms. In a sick child, the progressive severity of symptoms is also determined.
Dystonia in a child: symptoms
Dystonia in children can manifest itself with the following symptoms:
- Part of the body is bent or twisted, is in an abnormal position.
- Observed repeated body movements that may resemble tremor.
- Movement disturbances are aggravated by voluntary actions. (This can lead to a wrong perception that the child is “simulating” the symptoms.)
- Symptoms may be present with one activity, but not with other actions. For example, symptoms may occur when walking forward, but not at all determined by running or swimming.
- The manifestations most often diminish or disappear during sleep.
- Attempting movement on one side of the body may contribute to the appearance of dystonia symptoms on the other.
It is important to remember that dystonic movements and postures can be temporarily reduced by a light touch or a special action called sensory reception. This method of exposure is especially effective in primary dystonia, whereas it may not work in the secondary form of the disease.
Video: Dystonia in Children & Adolescents Webinar
Features of dystonia in infants and children in the first year of life
Not all symptoms of dystonia in children indicate a chronic movement disorder. There are conditions that must be diagnosed by a qualified physician, and they can usually be resolved during the first few months or years of a child’s life:
- Benign idiopathic dystonia in infants
Children may experience transient dystonic postures and / or movements. Symptoms appear in the first months of life and pass without treatment.
- Benign paroxysmal torticollis
It is a repeated inclination of the head or twisting of the neck, often accompanied by vomiting and irritability. Episodes tend to occur with some regularity and become less frequent as the child develops.
- Congenital muscular torticollis
A rare disease characterized by shortening of the neck muscles, causing it to twist and turn the head. This can be seen in newborns or very young children. The disease is not a true dystonic disorder. Treatment includes physical rehabilitation, and sometimes surgery.
- Tonic paroxysmal attack
Characterized by recurring episodes of sustained eye movements in children under one year of age. Symptoms may outwardly resemble an epileptic seizure, but there is no loss of consciousness. Episodes of tonic paroxysms decrease with time.
Causes of Muscular Dystonia in a Child
Numerous underlying causes of dystonia in children are treatable, so much attention should be paid to the predisposing factors of dystonia. Possible reasons include:
- Hypoxic brain damage.
- Infectious damage.
- Autoimmune disorders.
- Metabolic Disorder.
- Exposure to toxic substances and some drugs.
Diskinetic cerebral palsy is one of the most common causes of dystonia in children. Dyskinetic cerebral palsy is characterized by a combination of involuntary movements, including dystonia and choreoathetosis (wriggling, tortuous movements). Symptoms usually occur on both sides of the body and appear after the first year of life. Patients can also determine spasticity (muscle tension).
Dystonia acquired due to stroke-like brain injury or a brain tumor may develop several months or years after the underlying disease.
There are a number of hereditary dystonias affecting children, many of which belong to the same gene variant. These genes include DYT1 / TOR1A, DYT6 / THAP1, DYT11 / SGCE and others.
Several gene panel tests are available for screening dystonic genes. But even if a gene associated with dystonia is identified, the likelihood that a person will develop the disease is only about 30%. Also, the degree to which a child can be affected often varies widely. If you want to learn more about hereditary predisposition, you can contact a genetic counselor.
Dopa-responsive dystonia is a group of diverse hereditary disorders, often mistakenly diagnosed as cerebral palsy. A consensus among most clinicians suggests that children suffering from dystonia should be prescribed a levodopa study, because dystonia that responds to dopa usually responds well to this therapy, and children with various additional types of dystonia can also improve.
Diagnosis of dystonia syndrome in children
Diagnosis of dystonia in children is difficult and requires careful evaluation by experts in the field of movement disorders in children. Dystonia may be the only symptom of a movement disorder in a child or manifest along with other pathological signs, for example, in the form of myoclonus (jerky movements).
Diagnosing dystonia in children can be a difficult process, given its many manifestations and causes. Some questions may be useful for discussion with the doctor in charge of the child during the assessment process or after the diagnosis of dystonia.
- How was it possible to come to the diagnosis of dystonia in a child?
- Are pathological movements or neurological symptoms determined?
- Can dystonia occur as a result of drug reactions?
- Can dystonia be attributed to cerebral palsy, brain damage, autoimmune disease or infection?
- Is neuroimaging recommended, such as an MRI?
- Is dystonia a metabolic disorder? Is lumbar puncture recommended?
- Is genetic testing necessary? Can a genetic counselor be recommended?
- What treatments are recommended and why?
- What can be done to eliminate certain symptoms (for example, pain, problems with sleep, etc.)?
- Who can help develop strategies to assist in everyday life? (For example, in matters of mobility, self-care, communication, etc.)
Dystonia in children is diagnosed, above all, with expert observation of physical symptoms. Diagnostic tests may include:
- Blood tests.
- Genetic testing.
- Study on metabolic disorders (lumbar puncture)
- Magnetic resonance imaging (MRI).
- Electroencephalography (EEG).
During diagnosis, the physician must ensure that dystonia is not mistaken for spasticity, weakness, bradykinesis, or other signs of movement disorders, such as tics.
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Dystonia treatment in children
For the treatment of dystonia in children, a team of medical professionals may be required, including a neurologist or a pediatric (pediatric) neurologist who has undergone special training in movement disorders.
The symptoms of dystonia in most cases are difficult to completely eliminate, but still the treatment is carried out and it may include:
- Occupational therapy.
- Occupations on the adaptive equipment and devices.
- Speech therapy
- Behavioral strategies.
Behavioral strategies can be based on relaxation techniques, oral medications, and injections of botulinum neurotoxin.In the extreme case, an operation is performed on deep brain stimulation.
Drug treatment is ineffective, but when indicated, baclofen, trihexyphenidyl, levodopa and diazepam are used. Side effects are common. It is important to know that children may be less likely to recognize or complain about the side effects of medications than adults.
Dystonic treatment in children tends to focus on reducing motor symptoms, but other, non-motor aspects of dystonia can have a significant impact on overall quality of life, and therefore should be considered as part of a comprehensive treatment plan.
Dystonia is a movement disorder that affects the physical body and can also affect emotional and psychological health.In children, there are several forms of the disease, such as primary, secondary and degenerative, as well as focal, segmental, hemidystonia and generalized dystonia.
Diagnosis of the disease is based on a medical examination of the child by a neurologist, best of all children. If necessary, MRI, EEG, blood tests, genetic testing can be performed.
In the treatment of dystonia in children, an important role is played by conservative methods of influence, physiotherapy, and complex rehabilitation. If indicated, deep brain stimulation can be performed.
Living with dystonia involves treating physical symptoms, protecting emotional and psychological well-being, and meeting the individual needs of the child as a person.
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