Fukuyama Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described the classic imaging findings in a child with this rare condition.

Automated summary

Congenital muscular dystrophy is a group of neurological disorders characterized by weakness and hypotonia at birth. Fukuyama type of CMD, in particular, can have distinct imaging findings. We described the classic imaging findings in a child with this rare condition.