Résumé :
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Communication n° 78 Spinal Muscular Atrophy (SMA) in childhood represents a group of genetic disorders, characterised by bulbar and spinal motoneuron degeneration. A transversal research was made with patients assisted in the Neurology and Neurosurgery Institute of Cuba between January of 1997 and December of 2001. A group of 35 patients was selected, 4 of them were fetus. The clinical picture, data of the electromiogram studies, muscular biopsy report and the molecular genetic results were collected. SMA type II was the most frequent form, observed in 58% of the group, followed by SMA type I with 42% of the cases. The molecular genetic research was performed in 23 cases. The deletion of the 7 exon of the SMN gene was the most frequent anomaly found (65%), followed by deletion of the 7 and 8 exon in 22 % of the cases. In 3 cases no deletion was observed.Conclusion: significant correlation between clinical picture and molecular genetic results were obtained.
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