Paroxysmal kinesigenic dyskinesia: Causes, symptoms, treatment

The movement disorder paroxysmal kinesigenic dyskinesia (PKD) is caused by abrupt voluntary movements where the disease is characterised by outbreaks of chorea that dissipate within minutes and may recur often throughout the day. PKD is a neurologic condition that can be inherited, acquired or induced by another neurologic disorder and PKD attacks can occur many times each day and have numerous triggers.

Attacks might occur anywhere from once a year to hundreds of times each day while voluntary motions such as getting in and out of a car or changing from sitting to standing are common triggers. In an interview with HT Lifestyle, Dr Pankaj Agarwal, Senior Consultant – Neurology, Head – Movement Disorders Clinic and In-charge – DBS program at Global Hospital in Mumbai, highlighted the causes of paroxysmal kinesigenic dyskinesia and said, “Variants (also known as mutations) in the PRRT2 gene can cause familial paroxysmal kinesigenic dyskinesia. This gene’s protein regulates communication between nerve cells (neurons) in the brain. PRRT2 gene variations that produce less PRRT2 protein result in aberrant neural signalling. Individuals with familial paroxysmal kinesigenic dyskinesia have periods of jerking or shaking motions triggered by abrupt action, such as getting up fast or being startled.”

Revealing that the symptoms are generally unilateral, he said, “They can alternate or even be bilateral. The limbs are the most usually afflicted, but the neck, face, and trunk may also be impacted. Dystonic jaw or facial spasms can cause dysarthria. After an assault, there is a refractory phase in which unexpected movement may not induce an attack. Awareness is constantly maintained.”

Talking about the treatment of Paroxysmal Kinesigenic Dyskinesia, he shared, “Therapy for paroxysmal dyskinesias must be personalised to the individual, and numerous alternatives may need to be tried before symptoms are reduced or eliminated. Both the physician and the patient must exercise patience. Oral medicines are frequently used as the primary mode of therapy. Anticonvulsants such as phenytoin, primidone, valproate, carbamazepine, phenobarbital, and diazepam work well for those with paroxysmal kinesigenic dyskinesia (PKD).”

He added, “Anticholinergics, levodopa, flunarizine and tetrabenazine are among more medications that may be beneficial. Haloperidol has shown inconclusive outcomes. Clonazepam, haloperidol, alternate day oxazepam, and anticholinergics may help with paroxysmal non kinesigenic dyskinesia (PNKD). In most situations, anticonvulsants are useless. It is critical to avoid triggering variables such as alcohol and coffee.”

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