A genetic disorder is a health condition caused by an abnormal chromosome or gene. Genes are passed down from parent to child and contain the “building instructions” for the human body. An alteration or other change in a gene is called a mutation.
Chromosomal abnormalities, including gene mutations, can:
- Alter how a specific organ works
- Change how a baby develops
- Cause other health problems
Exceptional neurological care is available at Dignity Health through Barrow Neurological Institute at St. Joseph’s Hospital and Medical Center, including treatment of genetic disorders in Arizona. Use our online Find a Doctor tool to make an appointment today.
Genetic disorders include:
- Cystic fibrosis, a condition certain cells produce a thick mucus that may lead to life-threatening complications
- Cerebral palsy, a movement disorder caused by a combination of genetic and environmental factors, including a lack of oxygen to the brain during fetal development or birth
- Muscular dystrophy, a condition involving the skeletal muscles that control movement
- Sickle cell anemia, a blood disorder that involves abnormal hemoglobin and red blood cells
- Down syndrome, a condition caused by an extra copy of chromosome 21, which causes intellectual disability, changes in facial features, and poor muscle tone
- Ataxia, a nervous system disorder that makes the body unable to control normal muscle movement
- Usher syndrome, an inherited disorder that affects both hearing and vision
- Rett syndrome, marked by normal early growth and development followed by declines in physical movement and intellectual ability
Genetic Disorder Symptoms
Signs and symptoms of genetic disorders vary greatly depending upon which parts of the body are affected. Prenatal screening and testing can detect many genetic disorders.
Some genetic disorders do not have any visible or obvious signs or symptoms. Babies born in the US undergo newborn screening to check for the presence of certain genetic disorders and other health conditions.
What Causes Genetic Disorders
Genetic disorders are caused by an unusual gene or a chromosomal abnormality. A small change in just one gene can affect the function of the body. Most genetic disorders are inherited, passed down from parent to child through generations.
Some genetic disorders are the result of a new, spontaneous gene mutation. A new mutation can occur in the egg or sperm that creates a child, even though the parent does not have the genetic disorder. New mutations can also occur throughout our lifetimes. Still, other genetic disorders are caused by more than one factor (multifactorial).
Treatment of Genetic Disorders at Dignity Health
At present, there is no known cure for genetic disorders because doctors can’t correct abnormal genes. Treatment focuses on preventing complications and improving health. Genetic counselors can help couples understand their risk of passing down a genetic disorder. Your doctor is your best source of information about genetic disorder treatment alternatives and expected health outcomes.
Dignity Health provides compassionate treatment of genetic disorders in Arizona.