Generalized Dystonia as Presenting Feature of Wilson Disease: A Case Report

• Auteurs principaux: Akansha Anushree MBBS (Auteur), Sudesh Kumar MD (Auteur), Piyali Bhattacharya MD (Auteur), Siddharth Tripathi MBBS (Auteur), Nandita Chattopadhyay DNB (Auteur)
• Format: Livre
• Publié: SAGE Publishing, 2023-03-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Wilson disease is a rare autosomal recessive genetic disease, caused by the mutation of the ATP7B gene leading to decreased secretion of serum ceruloplasmin in blood and decrease biliary excretion of copper leading to toxic level accumulation in the liver, brain, kidney, and cornea, resulting in dev...