Rapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation

Abstract

Rapid-onset dystonia-parkinsonism (RDP), also known as DYT12 dystonia, is a rare neurological disorder caused by a mutations in the ATP1A3 gene. It typically presents with a sudden or rapidly progressive onset of dystonia, parkinsonism, and bulbar symptoms, which tend to stabilize shortly after onset and show minimal to no response to levodopa treatment.

We report the first documented case of RDP in Africa, involving a Moroccan patient carrying a novel ATP1A3 mutation. The patient exhibited a partial clinical response to levodopa, challenging the conventional understanding of treatment response. This case broadens the known geographic distribution of the disorder and highlights the divergence in therapeutic response.