A gene mutation is a permanent change in the DNA that makes up a gene.
The changes in a gene are called mutations. Mutations can range in size they can affect a single DNA building block to a big part of a chromosome that includes many genes. Serious disorders like Sickle- cell anemia, Spinal muscular atrophy, Turner syndrome, and Progeria are caused by a mutation in a single gene. Sickle- Cell Anemia is a disorder that affects the hemoglobin, a molecule in the red blood cells that delivers oxygen to the cells. The signs and symptoms of sickle cell disease happens in a child's early childhood. Some of the features of the disorder are having a low number of red blood cells, repeated infections, and occurring episodes of pain. The symptoms …show more content…
Spinal Muscular Atrophy takes away the physical strength of people affected with it. It affects the motor nerve cells in the spinal cord it takes away the ability to walk, eat, or breathe.The symptoms for children with type 1 SMA or Werdnig-Hoffmann, Infantile SMA disease their symptoms are noticeable at birth or at 6 months. They’re very weak, have difficulty breathing, swallowing and have problems sucking. Between 7-18 months the symptoms for children with SMA type 2 or intermediate SMA are noticeable. Some children will be able to sit on their own without support from someone else, but others will have some difficulty. SMA type 2 symptoms vary on each different patient, but usually include muscle weakness, low muscle tone, and legs are weaker than the …show more content…
It causes many development problems like short height, failure to start puberty, heart defects, and certain learning disabilities. It's usually diagnosed before birth, during infancy or early childhood. Also during a girl’s teen years or when she's a young adult she may encounter mild signs of Turner Syndrome. Girls and women who have Turner Syndrome need regular medical treatment by different types of specialist. With the appropriate care and regular checkups they are able to have a healthy life.When getting a prenatal ultrasound of a baby who might have turner syndrome may show abnormal kidneys, heart abnormalities, and a large fluid collection in the back of the neck. Signs of a baby with Turner Syndrome at birth are short fingers and toes, broad chest with widely spaced nipples, delayed growth, and arms that turn outward at the elbows. In older girls like teen and young women symptoms may include no growth spurt at expected times in childhood, learning disabilities, failure to begin sexual changes during puberty, and for most women itś hard to conceive a child without fertility