Abstract

GAROFALO GOMEZ, Nicolás et al. Spinal muscular atrophy present in children. Rev Cubana Pediatr [online]. 2009, vol.81, n.3. ISSN 0034-7531.

INTRODUCTION: Spinal muscular atrophies (SMA) in childhood are autosomal recessive genetic disorders, characterized by spinal and bulbar motoneurons degenerations. Aim of present paper was to describe the main clinical features in a series of children presenting SMA. METHODS: A retrospective study of patients with SMA seen in the Neurology and Neurosurgery Institute of Cuba from January, 2997 and December, 2001 was made. Data from 35 patients were available; four of them were fetus with prenatal confirmation of SMA. Main clinical, electromyography, muscular biopsy, and of molecular genetic studies performed in each case were determined. RESULTS: Type II SMA was the more frequent clinical presentation (58%), followed by type I SMA (42,%). Main clinical manifestations were a systemic muscular weakness with predominance of the proximal type in limbs, associated to hypoxia and osteotendinous areflexia. Seven and eight exons deletion SMN1 gen was detected in 20 from 23 study cases (87%).

Keywords : Spinal muscular atrophy; molecular genetics; hypotonia; childhood; motorneuron..

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