| pubmed-article:8448040 | pubmed:abstractText | Forty-three cases of infantile spinal muscular atrophy diagnosed in our department between 1977 to 1991 are presented. Following clinical-pathologic evaluation, 27 cases were included in type I, 7 in type II and 9 cases in type III. The most frequent pathologic finding was the presence of large groups of atrophic fibers and hypertrophy of isolated fibers in muscle biopsy. Enzyme study showed higher mean levels of CPK and aldolase in type I with respect to the other two. Likewise, a significant statistical difference was found in the age of onset of the different groups. Finally, the clinical classification of spinal muscular atrophies in infancy is discussed. | lld:pubmed |
