Neurodevelopmental Disorder with Involuntary Movements (NEDIM)

Neurodevelopmental Disorder with Involuntary Movements (NEDIM)

OMIM number: 617493

Comments closing date: 07/10/2024

Initially, the alterations in the GNAO1 gene were linked to developmental and epileptic encephalopathy 17. However, it later emerged that they can also cause another type of condition. NEDIM is characterized by global developmental delay and infantile or childhood onset of hyperkinetic involuntary movements. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures. In some cases, NEDIM can be fatal.

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