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Ataxia de Friedreich - Overview

Nombres alternativos

Degeneración espinocerebelosa

Definición:

Es una enfermedad poco común que se transmite a través de las familias (hereditaria) y afecta los músculos y el corazón.

Causas, incidencia y factores de riesgo:

La ataxia de Friedreich es causada por un defecto o anomalía en un gen llamado frataxina (FXN), localizado en el cromosoma 9. Los cambios en este gen hacen que el cuerpo produzca demasiada cantidad de una parte del ADN llamado repetición del trinucleótido (GAA). Normalmente, el cuerpo contiene aproximadamente de 8 a 30 copias de GAA, mientras que los individuos con este tipo de ataxia tienen hasta 1000 copias. Cuantas más copias de GAA tenga el paciente, más temprano en la vida será el comienzo de la enfermedad y más rápido su empeoramiento.

La ataxia de Friedreich en un trastorno genético autosómico recesivo, lo que significa que uno tiene que heredar el gen defectuoso de ambos padres para resultar afectado.

Aproximadamente 1 de cada 22,000 a 29,000 personas desarrollan esta enfermedad y los antecedentes familiares elevan el riesgo.

  • Reviewed last on: 11/22/2010
  • Kevin Sheth, MD, Department of Neurology, University of Maryland School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Johnston MV. Movement disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 597.

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