Hutchinson-Gilford-Progeria-Syndrome - one of the rarest diseases скачать в хорошем качестве

Hutchinson-Gilford-Progeria-Syndrome - one of the rarest diseases

Hutchinson-Gilford-Progeria-Syndrome is characterized by rapid aging; the affected children usually die before reaching adulthood. Five facts to keep in mind about this disease: I: Epidemiology = Approximately one out of four million newborns suffers from this disease. II: Pathology = Lamin A, a compound of the nuclear lamina, can not be processed but accumulates as progerin. III: Phenotype = The children appear to age rapidly with features associated with advanced age, like age spots and wrinkles. IV: Diagnosis = Physicians might suspect the disease; a definitive diagnosis is feasible with genetic testing. V: Treatment = The disease is incurable at the moment, but there are potential future options, including enzyme inhibitors and gene therapy.