Dystonia in childhood is a movement disorder that causes uncontrollable muscle contractions. These muscle contractions result in twisting, repetitive movements and abnormal postures. The movements and postures may be chronic or occur in episodes. Symptoms can vary with body position, specific tasks, emotions, and state of consciousness.
Diagnosing dystonia in children is complex and requires careful evaluation by experts in pediatric movement disorders. Childhood dystonia often occurs as a symptom of an underlying brain disorder.
Dystonia can be the only movement symptom a child has or occur along with other movement symptoms—for example, myoclonus (jerking movements).
Signs of Dystonia:
- A body part is flexed or twisted into an abnormal position.
- Repetitive and patterned body movements, which may resemble tremor.
- Movement symptoms worsen with voluntary action. This can cause the incorrect perception that the child is ‘faking’ the symptoms.
- Symptoms may be present while walking but not running or swimming.
- Symptoms diminish or disappear during sleep.
- Attempting a movement task on one side of the body may activate dystonia symptoms on the opposite side.
- Dystonic movements and postures may be temporarily relieved by a gentle touch or specific action called a sensory trick.
Dystonia in children is diagnosed primarily by expert observation of the physical symptoms. The diagnostic work up may include blood tests, genetic testing, testing for metabolic disorders (lumbar puncture), magnetic resonance imaging (MRI), and electroencephalography (EEG).
Cerebral palsy is among the most common causes of dystonia in children. Additional causes can include hypoxic brain injury, infections, autoimmune disorders, metabolic disorders, stroke, toxins, and certain medications.
There are a number of inherited dystonias that affect children, many of which are attributed to a single gene variant.
Treatment may include physical therapy, occupational therapy, adaptive equipment and devices, speech therapy, behavioral strategies such as relaxation techniques, oral medications, botulinum neurotoxin injections, and/or deep brain stimulation surgery.
Treatment for dystonia in children tends to focus on reducing the movement symptoms, but there are non-movement aspects of dystonia can have a significant impact on overall quality of life and should be considered as part of a comprehensive treatment plan. These may include pain management, difficulties with daily tasks, trouble using the hands, difficulty with seating, mobility challenges, sleep difficulties, and sometimes communication issues. Children with dystonia, especially inherited dystonias, may have higher rates of anxiety and depression than children overall.