Movement Disorders

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder caused by various mutations in the ATP7B gene, which regulates copper transport within hepatocytes. Dysfunction of this transport mechanism leads to abnormal copper accumulations in the liver, brain, eyes, and other organs, with consequent major and variably expressed hepatic, neurologic, and psychiatric disturbances. Liver involvement may manifest as hepatitis, liver failure, or cirrhosis, while basal ganglia involvement causes the extrapyramidal signs. Most patients are diagnosed between the ages of 5 and 35 years (mean: 13 years). Diagnosis is established if the patient has low plasma ceruloplasmin, corneal deposits of copper (Kayser-Fleischer rings), and elevated copper levels in the urine. However, other tests are often needed since not all patients will have all these findings. The prognosis is good for patients without advanced liver disease and who are treated with the chelating agents penicillamine or trientine. Untreated Wilson disease is ultimately fatal, with patients dying from cirrhosis, acute liver failure, or complications due to progressive neurologic disease.

There are many parkinsonian disorders that present similarly, but are not Idiopathic Parkinson's disease. These include Progressive Supranuclear Palsy, Multiple System Atrophy and Corticobasal degeneration. This article outlines the definition, epidemiology, pathophysiology, diagnosis management and prognosis of these conditions.

Abnormal movements can be presenting features of several neurodegenerative disorders, most commonly parkinsonism, or can occur as side effects of drugs, most commonly antipsychotics. A few other disorders can also present with abnormal movements. Drugs used in treatment of parkinsonism and other movement disorders mainly act on the central nervous system. In this article, we will study the pharmacology of these drugs.

The clinical picture of Huntington’s disease belongs to the category of movement disorders or extrapyramidal disorders and has autosomal dominant inheritance. The disease is characterized by a progressing hyperkinetic syndrome, where an increase in motions or an akathisia occurs. The complete medical picture is characterized by a combined indication of choreatic hyperkinesia, dementia as well as weight loss (anorexia), which is caused by an increased basal metabolic rate.