What is congenital muscular dystrophy?
The congenital muscular dystrophies are a group of conditions which share early presentation and a common muscle pathology. In the great majority of cases of congenital MD the initial symptoms are present at birth or in the first few months. Babies with congenital MD often have hypotonia (low muscle tone or floppiness), and may have reduced movements. Other common signs are contractures (tightness) in the ankles, hips, knees and elbows. The contractures can sometimes be severe and affect several joints (known as arthrogryposis). They happen because the baby has not had the muscle strength to move freely enough in the womb. Some of these babies may also have respiratory problems because of weakness of breathing muscles. In some children who do not have contractures the first problems are only noted after a few months because of difficulties in holding the head or delay in learning how to sit unaided, stand or walk. Congenital MD is inherited and the pattern of inheritance is known as ‘a