Congenital Diseases

Inherited metabolic diseases are a common cause of birth defects. While individual genetic metabolic diseases are rare, more than 1,300 metabolic congenital disorders have been identified. As a group, inherited metabolic disorders result in many babies with birth defects.   Screening newborns for genetic metabolic diseases is standard procedure, but such tests cover only a few of the hundreds of metabolic... Read more >

Congenital Myopathies

Congenital myopathies are muscle disorders that affect the skeletal muscles from birth. Most types of congenital myopathy occur when both parents carry the genes for the disease, but some are due to a single dominant gene that overrides the health gene.   Congenital myothapthy symptoms range from mild muscular weakness to fatal respiratory distress, depending on which type of myopathy is... Read more >