Epidemiological study on a Wilson disease group of patients

Abstract

Wilson disease is a disorder of copper metabolism caused by genetic mutations in the ATP7B gene which lead to the accumulation of copper in the body. This study was conducted using an online questionnaire consisting of 32 questions in a group of patients suffering from Wilson disease. The study included 67 people aged 7 to 56 with Wilson disease. The most common symptoms of the participants were hepatic and neurological in 22 cases (32.8%). The most common neurological symptom in the assessed cases was muscle stiffness (49.5%), followed by tremor (45%), and speech disorders (40.5%). The Kayser-Fleischer ring was present in 50.7% of the participants. The most commonly used drug treatment in the participants was D-penicillamine (77.61%).