Therefore, specific treatments for these diseases usually do not exist . Due to the complexity of certain diseases, clear and useful information to patients, their families and health professionals is lacking. In addition, poor or non-existing media coverage for these diseases,compared to others, has amplified the feelings of loneliness in patients and their families. Therefore, various support groups and isolated persons decided to unite their efforts. Description of a few orphan diseases we are concerned about Amyloses are characterized by a deposit, usually extracellular, of denaturared, insoluble, fibrillar proteins.
Clinical manifestations are polymorphic.
100 cases have been recorded in France. Angelman Syndrome is characterized by easy laughter, mental retardation, associated with characteristic facial and behavioral features. Gilles de la Tourette Syndrome is a neurological disorder characterized by involuntary, rapid and sudden movements that are produced in a stereotypic and repetitive manner. This disease is transmitted by a dominant gene that can produce different symptoms indifferent members of the same family. It leads to progressive loss of physical and intellectual capabilitieswith uncoordinated movements, motion problems and some aggressivity.