[Progressive infantile spinal muscular atrophy. Report of 12 cases].
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.
Fontana
M H
MH
Hospital da Criança Santo Antonio, Porto Alegre.
Pörtner
M R
MR
Salim
P A
PA
Bobek
P R
PR
Da Roza
P R
PR
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000503:physiopathology; D011379:Prognosis; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000503:physiopathology
Atrofia muscular espinhal infantil progressiva. Relato de 12 casos.