Neurology diagnoses and treats disorders of the nervous system, including the brain, spinal cord, and nerves, as well as thought and memory.
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The diagnosis of a pediatric movement disorder is primarily clinical, relying on the “eye” of the specialist. The physician must observe the child in various states: at rest, during action, while distracted, and while performing specific tasks. Describing the “phenomenology”—the specific character of the movement—is the most critical step.
Doctors often ask the child to perform tasks that bring out the symptoms, such as writing, pouring water, or walking down a hallway. They look for suppressibility (can the child stop it?), rhythmicity (is it a beat?), and triggers. Home videos provided by parents are invaluable, as symptoms often disappear in the doctor’s office.
Magnetic Resonance Imaging (MRI) of the brain is the standard imaging modality. It is used to look for structural abnormalities, scarring from birth injuries, or signs of metabolic disease. The basal ganglia are highly metabolically active and often show specific signal changes in mitochondrial or metal storage disorders.
Specific sequences are used to visualize iron deposition (as in Neurodegeneration with Brain Iron Accumulation) or delayed myelination. While MRI is crucial, it is important to note that in many genetic movement disorders, such as primary dystonia or Tourette syndrome, the MRI is typically normal.
With the advent of Next Generation Sequencing, genetic testing has revolutionized the diagnosis of pediatric movement disorders. Whole Exome Sequencing (WES) can analyze thousands of genes simultaneously to find mutations associated with rare channelopathies or neurotransmitter defects. This is particularly useful for “cerebral palsy mimics.”
Metabolic testing is urgent if the child has a treatable condition. Tests on blood, urine, and cerebrospinal fluid (CSF) look for biomarkers of energy failure, neurotransmitter deficiency, or vitamin responsiveness. For example, a lumbar puncture can diagnose glucose transporter deficiency or dopamine synthesis defects.
For children with cerebral palsy or spasticity, a computerized gait analysis laboratory provides objective data on how the child walks. Cameras and sensors on the skin measure joint angles and muscle firing patterns (EMG) during the gait cycle. This helps surgeons plan orthopedic interventions precisely.
Electromyography (EMG) and nerve conduction studies are used to distinguish between central movement disorders and problems with the peripheral nerves or muscles. In myoclonus, “back averaging” EEG techniques can determine if the jerk originates in the cortex or the brainstem.
Functional Neurological Disorders (FND), or psychogenic movement disorders, are common in older children and adolescents. These are real disorders where the “software” of the brain is glitching, rather than the “hardware” being damaged. Diagnosing FND is a positive process based on specific signs, not just a diagnosis of exclusion.
Clinicians look for variability, entrainment (the movement changes to match a tapped rhythm), and distractibility. The “Whack-a-Mole” sign describes how holding one moving limb down causes the movement to pop up in another limb. Confirming FND is crucial to avoid unnecessary invasive testing and medications.
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Many movement disorders are caused by problems with the chemical signaling or electrical function of the brain cells, which does not show up on a structural picture like an MRI.
This is a comprehensive genetic test that reads the protein coding parts of your child’s DNA (about 20,000 genes) to look for mutations that could cause the disorder.
A spinal tap is necessary if we suspect a neurotransmitter deficiency (like low dopamine) or a glucose transport problem, as these can only be accurately measured in the spinal fluid.
Wilson’s disease is screened for using blood tests (ceruloplasmin), urine tests (copper), and an eye exam (Kayser-Fleischer rings) to detect copper overload.
Gait analysis tells the surgeon exactly which muscles are firing at the wrong time, preventing “guesswork” surgery and leading to better outcomes for walking.
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