Paroxysmal Kinesigenic Dyskinesia: Causes, Symptoms, and Treatment
Paroxysmal Kinesigenic Dyskinesia (PKD) is a neurological disorder that is characterized by sudden episodes of involuntary and unpredictable movements, which can occur anywhere from once a year to hundreds of times a day. The disease can be inherited, acquired or induced by another neurological disorder, and it affects the way nerve cells communicate in the brain.
Causes of Paroxysmal Kinesigenic Dyskinesia
PKD is primarily caused by mutations in the PRRT2 gene, which regulates communication between nerve cells in the brain. Variants in this gene can produce less PRRT2 protein, which leads to abnormal neural signaling and results in jerking or shaking motions triggered by abrupt action, such as getting up fast or being startled. The symptoms are usually unilateral and may involve the limbs, neck, face, or trunk.
Symptoms of Paroxysmal Kinesigenic Dyskinesia
The symptoms of PKD vary from person to person and depend on the severity of the disorder. It is characterized by sudden, short-lived episodes of involuntary movements that are triggered by sudden voluntary movements, such as getting up or walking. The movements typically last for several seconds to minutes and then recede on their own. Attacks may occur frequently throughout the day, and the number of episodes can range from one to hundreds.
The most common symptom of PKD is the presence of chorea, which is a term used to describe involuntary, non-rhythmic, jerky movements. The symptoms are usually unilateral, but they can alternate or even be bilateral. The limbs are the most usually affected, but the neck, face, and trunk may also be impacted. Dystonic jaw or facial spasms can cause dysarthria.
Treatment for Paroxysmal Kinesigenic Dyskinesia
The treatment of paroxysmal kinesigenic dyskinesia must be tailored to the individual. The initial treatment usually involves oral medications, such as anticonvulsants, which work well for those with PKD. Phenytoin, primidone, valproate, carbamazepine, phenobarbital, and diazepam are some of the commonly used medications.
The use of anticholinergics, levodopa, flunarizine, and tetrabenazine may also be beneficial. However, haloperidol has shown inconclusive outcomes. Clonazepam, haloperidol, alternate day oxazepam, and anticholinergics may help with paroxysmal non-kinesigenic dyskinesia (PNKD), but anticonvulsants are generally not useful.
It is critical to avoid triggering factors such as alcohol and coffee. Therapy for paroxysmal dyskinesias must be personalized 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.
Paroxysmal Kinesigenic Dyskinesia is a neurological disorder that affects the way nerve cells communicate in the brain, leading to sudden episodes of involuntary and unpredictable movements. It can be caused by mutations in the PRRT2 gene or other neurological disorders. The symptoms are usually unilateral, and the attacks may occur frequently throughout the day. The initial treatment primarily involves oral medications, such as anticonvulsants, and therapy should be tailored to the individual, and numerous alternatives may need to be tried before symptoms are reduced or eliminated.
If you suspect that you or a loved one may have PKD, consult with a neurologist or other healthcare provider to develop an appropriate treatment plan to manage your symptoms and improve your quality of life.#Paroxysmal #kinesigenic #dyskinesia #symptoms #treatment #Health