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• W2064373595 abstract "La distrofia miotónica es una enfermedad multisistémica autosómica dominante de expresividad variable. Se revisa nuestra experiencia de 18 años en pacientes afectados. Se han identificado 11 pacientes confirmados con el estudio genético molecular: 2 fallecieron, 5 siguen en control, a 2 se los sigue en otro centro y 3 abandonaron el control. Tres son familiares entre sí. Iniciaron en el período neonatal 7 niños con hipotonía, 4 de ellos con sufrimiento fetal añadido. Un niño se diagnosticó a los 3 meses por el padre afectado. Una niña consultó a los 10 años por agarrotamientos de las manos desde hacía años, un niño consultó a los 5 años con posturas anómalas de las manos y un niño consultó a los 4 años por retraso psicomotor. Alteraciones asociadas: 7 niños con retraso psicomotor, 2 casos de cataratas, un caso de diabetes de tipo 1, 3 casos de hipercolesterolemia, un sarcoma de pared abdominal, un caso de fractura de fémur y cadera, 2 casos de comunicación interauricular. El diagnóstico se realizó en 5 casos por la clínica o el fenotipo de madre y niño, en 3 casos tras diagnóstico familiar y en los 3 casos no congénitos sintomáticos exclusivamente por la clínica del niño. La distrofia miotónica es poco frecuente en nuestra experiencia; más frecuentes son las formas congénitas, que asocian con frecuencia sufrimiento perinatal. La genética permite identificar o excluir el proceso. Debe realizarse ante recién nacidos hipotónicos de causa no aclarada y plantearse en niños ante alteraciones motrices en los dedos y las manos no fácilmente explicables. Myotonic dystrophy is a highly variable autosomic dominant inherited multisystemic disease. We review our 18 years experience with patients suffering from this disease. Eleven patients were identified following a molecular genetic study: 2 patients died, 5 are still under control, 2 are being controlled in another Centre, and 3 dropped out. Three of them were relatives. Seven newborns started with hypotonic symptoms in the neonatal period, with hypotonic symptoms, of which 4 had foetal suffering. One child was diagnosed at age of 3 due to her father being affected. One girl was seen at age of 10 due to stiffness and tightening of her hands for years. One boy, aged 5, was examined due to abnormal hands posture, and a 4 year old child due to psychomotor delay. Associated disorders: 7 children with psychomotor delay, 2 cases of cataracts, 1 case of diabetes type I, 3 cases of hypercholesterolemia, 1 abdominal sarcoma, 1 case of femur and hip fracture, 2 cases of interatrial communication. The diagnostic was made in 5 cases by a clinic due to mother-son relation phenotype, in 3 cases after the family diagnosis and in another 3 cases non-congenital symptoms exclusively in the child's clinic. In our experience, myotonic dystrophy is uncommon; it is often congenital, and is associated with perinatal suffering. Genetics can identify or exclude the process. This must be done on newborns who are hypotonic for an unknown reason. It should be suspected in a child who presents with motor abnormalities in the fingers and hands." @default.
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• W2064373595 date "2010-02-01" @default.
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• W2064373595 title "Distrofia miotónica. Nuestra experiencia de 18 años en consulta de Neuropediatría" @default.
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• W2064373595 doi "https://doi.org/10.1016/j.anpedi.2009.09.019" @default.
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