Genetic disorders are caused by changes in a person's genes or chromosomes. These changes can be inherited from parents, or they can occur randomly before birth. Some genetic conditions are more common than others, and some can be identified through genetic testing. In this article, we'll discuss six of the most common genetic disorders, their symptoms, and how to identify them. Cystic fibrosis is a genetic disorder that affects the lungs and digestive system.
It is caused by a mutation in the CFTR gene, which affects the production of mucus and sweat. Symptoms of cystic fibrosis include frequent lung infections, difficulty breathing, and poor growth. Genetic testing can be used to diagnose cystic fibrosis. Liver disease is a group of conditions that affect the liver. It can be caused by a variety of factors, including genetics.
Symptoms of liver disease include jaundice, fatigue, abdominal pain, and dark urine. Genetic testing can be used to identify certain types of liver disease. Brain disease is a broad term that refers to any condition that affects the brain. It can be caused by genetic mutations or environmental factors. Symptoms of brain disease vary depending on the type of condition, but may include memory loss, confusion, difficulty speaking, and seizures.
Genetic testing can be used to identify certain types of brain diseases. Huntington's disease is an inherited disorder that affects the brain and nervous system. It is caused by a mutation in the HTT gene. Symptoms of Huntington's disease include involuntary movements, difficulty speaking and swallowing, depression, and dementia. Genetic testing can be used to diagnose Huntington's disease. Cleft lip and cleft palate are birth defects that affect the face and mouth.
They are caused by a combination of genetic and environmental factors. Symptoms of cleft lip and cleft palate include a gap in the upper lip or roof of the mouth, difficulty eating or speaking, and hearing problems. Genetic testing can be used to identify certain types of cleft lip and cleft palate. Albinism is a group of genetic conditions that affect the production of melanin in the body. People with albinism have no color or very little color in their hair, skin, and eyes.
Sun protection is essential for people with albinism. Genetic testing can be used to diagnose albinism. If you have a family history of a genetic disorder, you may want to consider genetic counseling to see if genetic testing is right for you. The genetic abnormality can range from tiny to severe, from a discrete mutation in a single DNA base of a single gene to a serious chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. To understand the causes of genetic disorders, it's helpful to learn more about how genes and DNA work. Fabry disease is a rare genetic disorder that can affect many parts of the body and cause many different types of symptoms.
Chromosome changes such as being older than 46 can also cause genetic conditions such as Down syndrome. Some people inherit genetic disorders from their parents while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Because chromosomes carry genetic material, abnormalities in the number or structure of chromosomes can cause diseases. Genetic conditions are often called hereditary because they can be passed from parent to child. If there is a family history, DNA testing for genetic disorders can be an important part of starting a family. For example, Down syndrome (sometimes called Down syndrome) or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. A genetic condition occurs when an altered (modified) gene is inherited from parents, increasing the risk of developing that particular condition. If you or a loved one has a genetic disorder, it's important to seek care from an experienced specialist. In addition, researchers studying the brain have found overwhelming evidence that a person's genetic factors and experiences guide and support brain development. Genetic conditions and birth defects occur in between 3 and 5 percent of babies born in Western Australia.
However, not all genetic conditions are transmitted from parent to child; some changes in genes occur randomly before you are born.
