Floppy infant syndrome due to neuromuscular disorders

Abstract

The congenital hypotonia, also known as the floppy infant syndrome, refers to an infant with generalized hypotonia presenting at birth or in early life. The most important aspect to be considered for assessing the diagnosis is to differentiate between a primary cause of hyptonia due to a neuromuscular disorder and a secondary cause due to non neurological conditions, chromosomal abnormalities or central nervous system involvement (cerebral causes of congenital hypotonia). The focus of the present review are: to report the main neuromuscular disorders, i.e. primary congenital hypotonia, that begin along the first two years of life; to describe the clinical aspects that suggest the differential diagnosis among these entities in order to allowa correct investigation and to avoid unnecessary methods of evaluation. It is also emphasized the value of the molecular diagnosis that is now available for some of these conditions.