Human development is a carefully choreographed process that relies on the movement, behavior and development of millions of cells. Central to proper development are thousands of genes that control cell behavior and guide organ and tissue development. Changes to genes, either by small variances within specific genes, or large genetic abnormalities, can lead to severe developmental disorders and genetic diseases that affect infants. A number of infant-affecting diseases linked to genetic disorders have been identified.
Sickle Cell Disease
Sickle cell anemia is a disease that affects infants, and can lead to infant and childhood mortality. Sickle cell disease is characterized by deformed and sickle-shaped red blood cells, which do not function properly. Under normal conditions, the red blood cells help carry oxygen from the lungs to all the tissues of the body. In sickle cell disease the cells cannot efficiently carry oxygen, so the tissues are oxygen-deprived. The condition is present from birth, but usually begins showing symptoms once infants reach 2 months of age.
Sickle cell disease screening is standard in several parts of the United States, according to Harvard University. Testing newborns' DNA allows for easy genetic screening for the disease, and sickle cell anemia can be treated with blood transfusions.
Tay-Sachs
A devastating and untreatable infant genetic disease is Tay-Sachs disease, which is a familial disorder that affects the nervous system. Tay-Sachs is an autosomal recessive disorder, meaning the infant must receive who copies of a mutant gene in order to have the disease. Two parents who are carriers of the mutant gene- meaning they have one copy each of mutant and normal gene-have a 25 percent chance of having a child with Tay-Sachs.
Children with Tay-Sachs lack a gene that is required to break down certain chemicals in the brain. Without the functional gene, the chemicals build up within the brain, causing neurological problems. The University of Maryland Medical Center reports that in many cases, the neurological damage begins during fetal development as worsens after birth and as the infant ages. In many cases, a child with Tay-Sachs will die by age 4 or 5.
Congenital Muscular Dystrophy
Another genetic disorder that affects infants is congenital muscular dystrophy. Congenital muscular dystrophy results in symptoms that are present at birth, which are caused by genetic mutations inherited from parents. Infants with congenital muscular dystrophy experience severe muscle weakness, and have only a very limited ability to move due to lack of muscle tone. A certain form of congenital muscular dystrophy, called Fukuyama congenital muscular dystrophy may also cause mental retardation in addition to muscle weakness.
According to Penn State University, infants with congenital muscular dystrophy can eventually learn to walk as they get older, but they may require assistance to live a normal life. Infants with Fukuyama congenital muscular dystrophy do not usually live past childhood.
