Department of Neurology, Children's Hospital, Boston, Massachusetts.
Eighty infants with nonarthrogrypotic floppy infant syndrome (FIS) were evaluated between 1979 and 1990. Electromyographic data were correlated with results of muscle and nerve biopsies in 41 of 80 who had concomitant biopsies (38) or other diagnostic analyses (3). A diagnosis was made of Werdnig-Hoffmann disease (WHD) in 15, a congenital infantile polyneuropathy (IPN) in 3, neuromuscular transmission defect (NMTD) in 2, myopathy in 12, and presumed "central" hypotonia in 9. A very positive correlation rate between nerve conduction studies with electromyography and biopsy results was found in 93% (14 of 15) with WHD and 100% in IPN (3 of 3). However, only 4 of 10 infants (40%) with biopsy-proven myopathy had an abnormal EMG. Only once did the results of electromyography and biopsy conflict.