Pediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. The broad differential diagnosis and complexity of genotype–phenotype relationships can make the diagnostic process time-consuming and difficult.

The diagnostic approach for PMDs includes several steps: recognition of distinct movement disorders (MDs), identification of clinical syndromes, consideration of genetic or acquired causes, and making findings on neuroimaging.

Various neuroimaging alterations have been described for MDs, and MRI findings can assist in ruling an etiological diagnosis in or out. For example, SWI allows for detection of biometal deposition. Diffusion-weighted imaging (DWI) can assess acute energy failure in the setting of metabolic disorders. A few imaging features are pathognomonic for specific disorders. More commonly, the combination of imaging and clinical features helps guide more efficient diagnostic workup. Arriving at an etiological diagnosis is critical for identification of potential targeted therapeutic tools.

In this chapter, we discuss various causes of PMDs, their differential diagnoses, and the importance of neuroimaging in determining etiology.