Question: What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ?
Answer: Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical has a toxic effect on nerve cells (neurons). It remains unclear if the PNKD gene is related to the breakdown of methlglyoxal. How mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia is also unknown.
Source: GHR

Question: What are the treatments for familial paroxysmal nonkinesigenic dyskinesia ?
Answer: These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Registry: Paroxysmal nonkinesigenic dyskinesia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR