Hyperkinetic movements in a cohort with congenital disorders of glycosylation

Takeaway

  • Hyperkinetic movement disorders represent a key clinical feature in individuals with congenital disorders of glycosylation (CDG).

Why this matters

  • Congenital disorders of glycosylation are a rare group of inheritable diseases that are often misdiagnosed.

  • The results of this study suggest that clinicians consider hyperkinetic movement disorders observed in childhood when diagnosing the subtype of CDG.