The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.
|Translated title of the contribution||Early myoclonic encephalopathy and spinal muscular atrophy type I|
|Number of pages||6|
|Publication status||Published - Jun 1995|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health