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Genetic Disorders Genetic disorders occur when a mutation affects your genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders. What are 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 common genetic disorders? There are many types. They include:
1. Chromosomal disorders Down syndrome (Trisomy 21). FragileX syndrome. Klinefelter syndrome. Triple-X syndrome. Turner syndrome. Trisomy 18. Trisomy 13. 2. Multifactorial disorders Late-onset Alzheimer’s disease.
Arthritis. Autism spectrum disorder, in most cases. Cancer, in most cases. Coronary artery disease. Diabetes. Migraine headaches. Spina bifida. Isolated congenital heart defects.
3. Monogenic disorders Cystic fibrosis. Deafness that’s present at birth (congenital). Duchenne muscular dystrophy. Familial hypercholesterolemia, a type of high cholesterol disease. Hemochromatosis (iron overload). Neurofibromatosis type 1 (NF1). Sickle cell disease. Tay-Sachs disease. Chromosomal disorders a. Down Syndrome People with Down syndrome are born with an extra chromosome, which changes the way their brain and body develop. The majority of babies with Down syndrome are born with an extra copy of chromosome 21, with three copies of the chromosome instead of the usual two. As a result, people born with Down syndrome face some physical and mental challenges throughout life. They typically have distinctive body and facial features that set them apart. Are there different types of Down syndrome? Yes, there are three types of Down syndrome. They are: Trisomy 21: The term “trisomy” means having an extra copy of a chromosome. The most common type of Down syndrome, trisomy 21, occurs when a developing fetus has three copies of chromosome 21 in every cell instead of the typical two copies. This type makes up 95% of the cases. Translocation: In this type of Down syndrome, there is an extra full or partial amount of chromosome 21 attached to another chromosome. Translocation accounts for 4% of the cases.
Occupational therapists to help refine their motor skills and make daily tasks easier. Behavioral therapists to help manage emotional challenges that can come with Down syndrome. b. Fragile X Syndrome Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an inherited condition that causes developmental delays, intellectual disabilities, learning and behavioral issues, physical abnormalities, anxiety, attention-deficit/hyperactivity disorder and/or autism spectrum disorder, among other problems. It’s the most common form of inherited intellectual and developmental disability (IDD). FXS is named fragile X syndrome because, when looked at through a microscope, part of the X chromosome looks “broken” or “fragile.” FXS is one of three syndromes in the fragile X family. The other two syndromes are: Fragile X-associated tremor/ataxia syndrome (FXTAS). Symptoms include balance problems, shaky hands, unstable mood, memory loss, cognitive problems and numbness in the hands and feet. Fragile X-associated primary ovarian insufficiency (FXPOI). Symptoms include reduced fertility, infertility, missing or unpredictable menstrual periods and premature menopause.
c. Klinefelter Syndrome Klinefelter syndrome is a common genetic condition where a male is born with an extra X chromosome. Typically, a male has one X and one Y chromosome. People with Klinefelter syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties. Treatment typically involves physical and emotional therapy, as well as hormone replacement.
symptoms include short stature and lack of breast development and periods. Treatment for Turner syndrome may include hormone therapy. What are the symptoms of Turner syndrome? The main symptom of Turner syndrome is short stature. Almost all females with TS: Grow more slowly than their peers during childhood and adolescence. Have delayed puberty and lack of growth spurts, resulting in an average adult height of 4 feet, 8 inches. (If diagnosed early, growth hormone can help the person reach near-normal height). Another symptom is not experiencing typical sexual development. Most females with TS: Don't experience breast development. May not have menstrual periods. Have small ovaries that may only function for a few years or not at all. Typically don't go through puberty, unless they get hormone therapy in late childhood and early teens. Don't make enough sex hormones. Besides short stature, females with Turner syndrome often have certain physical traits: Broad chest. Cubitus valgus, where the arms point out slightly at the elbows. Dental problems. Eye problems, such as a lazy eye or drooping eyelids. Scoliosis, when the spine curves sideways. Low hairline at the back of the neck. Many skin moles. Missing knuckle in a particular finger or toe, making the digit shorter. Narrow fingernails and toenails. Small lower jaw. Swelling of the hands and feet. Unusually short, wide neck or webbed neck (extra skin folds).
2. Multifactorial disorders a. Alzheimer's Disease Alzheimer’s disease causes a decline in memory, thinking, learning and organizing skills over time. It’s the most common cause of dementia and usually affects people over the age of 65. There’s no cure for Alzheimer’s, but certain medications and therapies can help manage symptoms temporarily. Classification
Lower back. What causes arthritis? Different types of arthritis have different causes. For instance, gout is the result of too much uric acid in your body. But for other types of arthritis, the exact cause is unknown. You may develop arthritis if you: Have a family history of arthritis. Have a job or play a sport that puts repeated stress on your joints. Have certain autoimmune diseases or viral infections. What are the risk factors for arthritis? Some factors make you more likely to develop arthritis, including: Age: The risk of arthritis increases as you get older. Lifestyle: Smoking or a lack of exercise can increase your risk of arthritis. Sex: Most types of arthritis are more common in women. Weight: Obesity puts extra strain on your joints, which can lead to arthritis. What are the symptoms of arthritis? Different types of arthritis have different symptoms. They can be mild in some people and severe in others. Joint discomfort might come and go, or it could stay constant. Common symptoms include: Pain. Redness. Stiffness. Swelling. Tenderness. Warmth. DIAGNOSIS AND TESTS How is arthritis diagnosed? If you think you may have arthritis, see your healthcare provider. The provider will ask about your symptoms and learn how joint pain affects your life. Your provider will perform a physical exam, which may include: Assessing mobility and range of motion in your joints. Checking for areas of tenderness or swelling around your joints. Evaluating your overall health to determine if a different condition could be causing your symptoms.
c. Autism Spectrum Disorder Autism spectrum disorder (ASD) was previously known as autism or pervasive developmental disorder. It's a lifelong condition. People with ASD benefit from therapies that can teach new skills. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the following: Difficulties in social communication differences, including verbal and nonverbal communication. Deficits in social interactions.
Learning that you have cancer can be stressful and frightening. Knowing what to expect — from diagnosis to recovery — can empower you and help you take control of your health. This is a general overview of what cancer is, symptoms to watch for, how it’s detected, treatments and post-treatment care e. Coronary Artery Disease Coronary artery disease (CAD) is a condition that affects your coronary arteries, which supply blood to your heart. With CAD, plaque buildup narrows or blocks one or more of your coronary arteries. Chest discomfort (angina) is the most common symptom. CAD can lead to a heart attack or other complications like arrhythmia or heart failure. f. Coronary Artery Disease Coronary artery disease (CAD) is a condition that affects your coronary arteries, which supply blood to your heart. With CAD, plaque buildup narrows or blocks one or more of your coronary arteries. Chest discomfort (angina) is the most common symptom. CAD can lead to a heart attack or other complications like arrhythmia or heart failure. g. Diabetes If you have diabetes, your body isn’t able to properly process and use glucose from the food you eat. There are different types of diabetes, each with different causes, but they all share the common problem of having too much glucose in your bloodstream. Treatments include medications and/or insulins. Some types of diabetes can be prevented by adopting a healthy lifestyle. h. Migraine Headaches A migraine is much more than a bad headache. This neurological disease can cause debilitating throbbing pain that can leave you in bed for days! Movement, light, sound and other triggers may cause symptoms like pain, tiredness, nausea, visual disturbances, numbness and tingling, irritability, difficulty speaking, temporary loss of vision and many more. i. Spina Bifida Spina bifida is caused by the incomplete development of the fetus’ spine during the first month of pregnancy. The condition varies in degree, from mild with no symptoms to severe with nerve damage.
3. Monogenic disorders
a. Cystic Fibrosis Cystic fibrosis (CF) is a genetic (inherited) disease that causes sticky, thick mucus to build up in organs, including the lungs and the pancreas. In people who have CF, thick mucus clogs the airways and makes it difficult to breathe. Management includes ways of clearing lungs and eating correctly. b. Sickle Cell Disease Sickle cell disease, a genetic disorder that affects red blood cells, is found most often in African Americans and Hispanics, but can be found in other ethnic groups. Testing is part of a newborn screening program. Gene therapy is being researched as a treatment. c. Hemochromatosis Hemochromatosis, or iron overload, is a condition in which your body stores too much iron. It’s often genetic. It can cause serious damage to your body, including to your heart, liver and pancreas. You can’t prevent the disease, but early diagnosis and treatment can avoid, slow or reverse organ damage. d. Tay-Sachs Disease Tay-Sachs disease is a genetic condition. Tay-Sachs is caused by a baby receiving two defective HEXA genes, one from each parent. Tay-Sachs disease symptoms include failing to meet motor milestones, such as sitting and standing. Babies born with Tay-
How are genetic disorders identified? Carrier testing: This blood test shows whether you or your partner carry a mutation linked to genetic disorders. This is recommended for everyone considering pregnancy, even if there is no family history. Prenatal screening: This testing usually involves blood testing from a pregnant person that tells them how likely it is that a fetus could have a common chromosome condition. Prenatal diagnostic testing: You can find out whether the developing fetus faces a higher risk for certain genetic disorders. Prenatal testing uses a sample of fluid from your uterus (amniocentesis). Newborn screening: This test uses a sample of your newborn baby’s blood and is performed on all babies born in Ohio. Detecting genetic disorders early in life can help your child receive timely care if needed. What is treatment for genetic disorders like? 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. How can I prevent a genetic disorder? There is often little you can do to prevent a genetic disorder. But genetic counseling and testing can help you learn more about your risk. It can also let you know the likelihood of passing some disorders on to your children.
