Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated

Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a total of 559 IMDs. We outlined the more common and treatable causes, sorted by the dominant movement disorder phenomenology, and provided a practical clinical approach for suspected IMDs presenting with movement disorders. This work represents an updated catalog in a series of articles aimed at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses based on system involvement.