The term “congenital” refers to the disease or symptoms being present at birth. There are two known forms of Congenital MD, Fukuyama CMD and CMD with merosin deficiency.
The congenital muscular dystrophies affect males and females, causing muscle weakness and severe joint stiffness (contractures) at birth or in early infancy. Newborns with either form are often floppy (hypotonic) at birth. Head and brain malformations occur in the Fukuyama form of CMD, causing a small head (microcephaly), mental retardations, and often seizures.