RESUMEN

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological evaluation, serum enzymes, electroneuromyography and muscle biopsy. Several aspects are discussed by the authors, especially those concerning the presentation mode of the illness and the laboratory investigation. Our results are reviewed under the light of the current literature.

Asunto(s)

Atrofia Muscular Espinal , Atrofias Musculares Espinales de la Infancia , Preescolar , Femenino , Humanos , Lactante , Masculino , Atrofia Muscular Espinal/complicaciones , Atrofia Muscular Espinal/fisiopatología , Pronóstico , Atrofias Musculares Espinales de la Infancia/complicaciones , Atrofias Musculares Espinales de la Infancia/fisiopatología