Genetic testing confirms the diagnosis and informs about familial risk. Understand what the results mean and the options available.
Pompe disease is caused by mutations in the GAA gene (chromosome 17), which encodes the enzyme acid alpha-glucosidase. It is inherited in an autosomal recessive pattern, which means:
• Two mutated copies of the gene are needed to develop the disease (one from each parent)
• Carriers (a single mutated copy) generally do not show symptoms
• If both parents are carriers, each child has a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of not carrying the mutation
After a Pompe diagnosis, genetic counseling is recommended to:
• Understand the inheritance pattern and what it means for the family
• Identify at-risk relatives who could benefit from screening
• Provide information about reproductive options (prenatal diagnosis, preimplantation genetic diagnosis)
• Address the emotional impact of the genetic diagnosis
A genetic counselor is a specialized professional who can guide you through this process.
When a case of Pompe is identified in a family, it is recommended to offer screening to first-degree relatives (siblings, children, parents). This is called cascade screening and allows:
• Detection of pre-symptomatic cases that could benefit from early treatment
• Identification of carriers for family planning
• Reduction of anxiety for relatives who turn out not to be affected
Screening usually consists of a dried blood spot test (DBS) followed by genetic analysis if necessary.
Pompe se hereda de forma autosómica recesiva: ambas copias del gen GAA deben estar mutadas para que aparezca la enfermedad. Cuando ambos progenitores son portadores, cada embarazo tiene un 25% de probabilidad de hijo afectado, 50% portador sano y 25% no portador: independientemente de embarazos anteriores.
Diagnóstico prenatal
Biopsia de vellosidades coriónicas (sem. 10-13) o amniocentesis (sem. 15-18) para análisis genético fetal.
Diagnóstico genético preimplantacional (DGP)
Análisis de embriones en FIV para transferir solo los no afectados. Disponible en centros acreditados.
Cribado de portadores
Estudio genético de la pareja antes de la concepción, especialmente si hay antecedentes familiares.
Consejo genético
Proceso educativo y de acompañamiento con genetista clínico. Gratuito en el sistema público español.
Ser portador no es culpa de nadie: es información que permite decidir con autonomía.
Fuentes provisionales: Fundación curará en Pago 5 fase 2.
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