What is the prevalence of Paroxysmal Kinesigenic Choreathetosis / Dyskinesia?

Paroxysmal Kinesigenic Choreathetosis/Dyskinesia (PKC/D) is a rare neurological disorder characterized by sudden, brief episodes of involuntary movements. These episodes, known as paroxysms, can be triggered by sudden movements or changes in posture. PKC/D typically begins in childhood or adolescence, with symptoms often improving or disappearing in adulthood.

The prevalence of PKC/D is estimated to be around 1 in 150,000 individuals. Although it is considered a rare condition, it may be underdiagnosed due to its variable presentation and lack of awareness among healthcare professionals. PKC/D has been reported in various ethnic groups worldwide, suggesting that it is not limited to a specific population.

PKC/D is thought to be caused by genetic mutations that affect the functioning of certain ion channels in the brain. These mutations disrupt the normal regulation of electrical signals, leading to the characteristic episodes of abnormal movements. While the exact mechanisms are not fully understood, it is believed that the abnormal movements arise from an imbalance between inhibitory and excitatory signals in the brain.

Diagnosis of PKC/D is based on clinical features and ruling out other conditions that may present with similar symptoms. Genetic testing can help confirm the diagnosis by identifying specific mutations associated with PKC/D.

Although PKC/D can significantly impact an individual's quality of life, it is generally considered a benign condition. Treatment options include medications that help reduce the frequency and severity of paroxysms. With proper management, individuals with PKC/D can lead fulfilling lives and participate in daily activities without major limitations.