About Angelman Syndrome
New York Center for Rare Diseases apoya la misión y las pautas del Centro de Información sobre Enfermedades Raras y Genéticas (GARD, por sus siglas en inglés). La siguiente información ha sido proporcionada por los NIH.
Resumen
Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.
Causas
¿Qué causa esta enfermedad?
Genetic Mutations: Angelman syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
Si sospecha que puede tener esta enfermedad, se recomienda que empiece a recopilar el historial de salud de su familia. Debe comentar con su equipo médico cualquier información sobre otros familiares que hayan tenido síntomas similares, cuándo aparecieron por primera vez dichos síntomas (en usted o en sus parientes) o la exposición a factores ambientales que pudieran, potencialmente, causar la enfermedad.