Infantile-onset limb and orofacial dyskinesia

Definition:

Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum.

References:

[1]. Christine P Diggle, et al. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-43. [Content Brief]

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