Genetic Disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique. You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.

Genetic disorders can be:

• Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material.

• Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use.

• Single-gene (monogenic): This group of conditions occurs from a single gene mutation.

What are the causes of genetic disorders? To understand genetic disorder causes, it’s helpful to learn more about how your genes and DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins start complex cell interactions that help you stay healthy. When a mutation occurs, it affects the genes’ protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include: • Chemical exposure. • Radiation exposure. • Smoking. • UV exposure from the sun.

What are the symptoms of genetic disorders?

Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may experience: • Behavioral changes or disturbances. • Breathing problems. • Cognitive deficits, when the brain can’t process information as it should. • Developmental delays that include challenges with speech or social skills. • Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients. • Limb or facial anomalies, which include missing fingers or a cleft lip and palate. • Movement disorders due to muscle stiffness or weakness. • Neurological issues such as seizures or stroke. • Poor growth or short stature. • Vision or hearing loss.

What is treatment for genetic disorders like?

Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment that’s right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early. You may need: • Medications to manage symptoms or chemotherapy to slow abnormal cell growth. • Nutrition counseling or dietary supplements to help you get the nutrients your body needs. • Physical, occupational or speech therapy to maximize your abilities. • Blood transfusion to restore levels of healthy blood cells. • Surgery to repair abnormal structures or treat complications. • Specialized treatments, such as radiation therapy for cancer. • Organ transplant, which is a procedure to replace a nonfunctioning organ with one from a healthy donor.

Most Common Genetic Disorders

Down syndrome (Trisomy 21) Fragile X syndrome Klinefelter syndrome Triple-X syndrome Turner syndrome Trisomy 18 Trisomy 13 Thalassemia Cystic Fibrosis #Blooming Buds CDC ,HYD