Hereditäre Bewegungsstörungen

Abstract

Hereditary movement disorders comprise a group of genetically defined diseases characterized by an impaired control of movements, ataxia and/or spasticity. Affected individuals are disabled, their quality of life significantly reduced and their life expectancy shortened. One or more genetic causes have been identified for many of these diseases, including Huntington's disease, Wilson's disease, spinocerebellar ataxias, recessive ataxias, hereditary spastic paraplegia and hereditary dystonias. Due to their characteristic molecular and biochemical pathogenesis, these rare diseases can often serve as models for more common disorders such as Alzheimer's disease or Parkinson's disease. The primary tasks of the German Network of Hereditary Movement Disorders (GeNeMove), funded by the German Ministry for Education and Research (BMBF), are to co-ordinate basic scientific research and clinical research into rare hereditary movement disorders and to improve the cooperation between the German centers specializing in hereditary movement disorders. For each of the diseases in its scope, GeNeMove works at creating standardized documentation of symptoms and the disease's progressive course over time; developing rating scales for clinical examinations and guidelines for therapy; improving genetic testing; fostering genetic research; and collecting samples of DNA, tissue, CSF and blood from sufferers of the disease for biobanks.

Seltene Krankheiten

“…Damit stün-de erstmalig ein Therapeutikum für diese Erkrankung zur Verfügung. Die Durchführung der Studie war in Deutschland nur über die Etablierung des Netzwerks möglich, das es erlaubt, eine ausreichende Zahl an Patienten zu rekrutieren[9].Leukodystrophien sind Erkrankungen des zentralen Nervensystems. Bei ihnen liegt eine Schädigung des Myelins vor, das einzelne Nervenzellen umgibt und sie isoliert.…”