RESUMEN
Nitric oxide is formed in skeletal muscle by the neuronal type nitric oxide synthase and the signalling function of dystrophin and related compounds are in part mediated by nitric oxide. Duchenne muscular dystrophy, mdx mice and patients with Becker dystrophy demonstrated neuronal type nitric oxide synthase deficiency in muscle biopsy specimens. We have intended to find out whether the plasma nitric oxide levels show any abnormality in patients with Duchenne muscular dystrophy. Serum NO levels of Duchenne patients (4.191+/-2.82 micromol/l) were significantly lower than those of the control (39.53+/-19.43 micromol/l) and cerebral palsy (77.84+/-21.70 micromol/l) groups.
Asunto(s)
Distrofia Muscular de Duchenne/sangre , Distrofia Muscular de Duchenne/fisiopatología , Óxido Nítrico/sangre , Parálisis Cerebral/sangre , Parálisis Cerebral/fisiopatología , Niño , Preescolar , Distrofina/metabolismo , Humanos , Masculino , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Distrofia Muscular de Duchenne/patología , Valores de ReferenciaRESUMEN
Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourteen families were classified as the "complicated" types which manifested with mental retardation and cerebellar abnormalities. The evolution and severity was variable, but was generally consistent within families. Carriers (parents) did not manifest any signs. A total of 5 multiplex families with "complicated" type were used to test for a genetic heterogeneity to the region on chromosome 8p12-q13 where the "pure" AR-HSP has been mapped previously. No evidence in favor of linkage was detected in 3 of our families, thus we further supported genetic heterogeneity for AR-HSP.
