Types of Genetic Disorders
Various genetic disorders can be found in the human genome. These disorders can be complex diseases, such as Huntington’s disease and Down syndrome, or X-linked recessive conditions, such as Fabry disease.
Down syndrome
Having a child with Down syndrome is not for the faint of heart, but it’s not something you have to live with forever. A baby with Down syndrome usually grows more slowly and is less likely to thrive than others. However, all babies with Down syndrome will eventually display some degree of learning disability. In addition, most kids with Down syndrome are smaller than their peers.
A trisomy is a chromosomal abnormality that occurs when one or more chromosomes are missing or altered in some way. The most common trisomy is Down syndrome. This condition can be inherited or spontaneous. In addition, there are other less common forms of trisomy. Among them are Mosaic Down syndrome, where an extra chromosome appears in the embryo, and Translocation Down syndrome, where an extra chromosome is attached to another chromosome.
A first-trimester screening will tell you if your baby has Down syndrome. The screen is a blood test for the mother, along with an ultrasound examination of the baby. A second-trimester screen is slightly more accurate and will reveal the presence of Down syndrome in approximately 75 percent of cases. The test is administered between 15 and 22 weeks of pregnancy.
The best part is that if you test your baby’s blood, you won’t have to wait long for results.
Hemochromatosis
Known as hereditary hemochromatosis, this disorder is caused by mutations in the HFE gene. The gene determines how your body can absorb iron from food. When it’s altered, your body stores too much iron, which can cause organ damage. If left untreated, hemochromatosis can cause premature death. It’s important to know if you have the gene to prevent the disease from developing.
Hemochromatosis is a genetic disorder that can cause severe liver disease, kidney damage, and premature death. Most of the time, carriers of the faulty gene do not experience symptoms until they become adults. The gene is usually passed down from parents to children.
In order to prevent hemochromatosis from damaging organs, people with the disease should make sure they eat a healthy diet and take proper care of their health. They should also consult with a doctor to learn more about their gene and how it can affect their health. It’s possible to find out if you have the disease by testing your blood. You can also have the gene tested through genetic testing.
In the current study, researchers used a community-based volunteer sample to investigate the penetrance of hemochromatosis. The study examined 54 women who had a hemochromatosis diagnosis at baseline.
Duchenne muscular dystrophy
Approximately 1/5000 to 1/6000 live male births are affected by Duchenne muscular dystrophy (DMD). The disease is caused by a change in the dystrophin gene. The gene is found on the X chromosome.
There is no known cure for Duchenne, but several new treatments are being tested in clinical trials. These therapies aim to help people with the disease live longer and be more active.
Duchenne is a progressive disease that affects the muscles and lungs. Its symptoms include difficulty walking, frequent falls, and muscle weakness. People with the disease usually die at an early age. It is also known to cause heart complications and airway obstruction.
A common test for DMD is an electrocardiogram. Other tests include a blood test for creatine kinase. Creatine kinase is a protein produced by damaged muscle cells. In DMD, creatine kinase levels are often up to 100 times higher than normal.
Physical therapy is also helpful in maintaining muscle strength. It can help children develop exercise plans and assistive devices. It is important to monitor bone health and use steroid medicine only if needed. Steroids can cause weight gain and lower bone density.
In addition, physical therapy can be used to help with speech therapy. Children may be able to use assistive devices to help them walk and speak.
Huntington’s disease
Getting a Huntington’s disease genetic test can help you get a better understanding of your risks. Genetic testing can determine whether you are carrying a mutation in your gene. If you are carrying a mutation, you can take steps to reduce your risk of developing the disease.
Huntington’s disease is a rare neurological disorder that affects the brain. People with the disorder have problems with memory, thinking, and reasoning skills. These symptoms appear gradually over a period of years. Some symptoms are mild and may be relieved by medicines. Others are more serious and require help with daily functions.
The disease has no known cure, but treatment can improve the quality of life of patients. People who carry a mutation can take part in clinical trials for gene therapy. Companies involved in these clinical trials include Sanofi Genzyme, Spark Therapeutics, Roche, and uniQure.
These clinical trials may only be available for patients at the beginning stages of the disease. However, they can benefit patients by offering free treatment. During a trial, you may need to undergo neurosurgery, monthly lumbar punctures, and other invasive procedures. The recovery time associated with these procedures is considerable.
The genetic test for Huntington’s disease analyzes DNA to find if you have a mutation in the huntingtin gene. If you do, your doctor will discuss your options with you. Genetic counseling can help you make a decision that is right for you.
Fabry disease
Fabry disease and genetic disorders are a group of diseases that affect the lipid and lysosomal breakdown of substances. In this condition, the alpha-galactosidase A enzyme is defective. This enzyme is essential for the daily breakdown of lipids. When there is a lack of this enzyme, harmful lipids build up in the body. This results in a variety of symptoms.
Fabry disease and genetic disorders affect a variety of organ systems, including the central nervous system, kidneys, and eyes. It can cause stroke, heart attack, and renal insufficiency.
Fabry disease and genetic disorders are caused by a mutation in the gene that produces the alpha-galactosidase enzyme. The alpha-galactosidase is essential for breaking down fats. When there is a lack of enzymes, fats and other lipids can build up in the body, causing a range of symptoms.
Males are more likely to have the classic form of Fabry disease. This form of the disease is diagnosed during childhood and causes a painful burning sensation in the hands and feet. Over time, these symptoms become worse.
Aside from the classic form, there is a second type of Fabry disease. It may be diagnosed late in life or undiagnosed. The symptoms of this form of the disease are not as severe as the classic form. In addition, it may only affect one organ, such as the kidney.
X-linked recessive conditions
X-linked recessive conditions are genetic disorders that occur as a result of a mutation in the X chromosome. These disorders are usually present in males, but females can also be affected. The inheritance pattern is well-defined, and the symptoms of the disease follow a definite pattern.
X-linked recessive disorders are usually transmitted by the carrier mother. A carrier female has a 50% chance of passing on the disease to her offspring. If the female has a variant gene, she can have milder symptoms. However, the disease can also be severe.
The carrier female may have symptoms similar to those of her daughter, but she does not have the disease. She may need to be monitored for cardiomyopathy, and she can pass on her variant gene to half of her children.
In contrast to dominant inheritance, recessive inheritance requires the presence of a genetic variant on both copies of the X chromosome. Females have a lower chance of having a variant on both X chromosomes than males. This makes females less likely to be affected by X-linked recessive conditions.
X-linked recessive conditions can be identified in families using genetic family history. When a male is affected, he will have progressive muscle weakness and may die in utero.
Complex diseases
Several types of genetic disorders are called complex diseases. These disorders are often associated with environmental factors. They may result from a combination of genes or from mutations in a single gene. These disorders are often difficult to treat because of the combination of genetic and environmental factors. Until now, there has been a lot of uncertainty about the causes of complex diseases. Identifying the causes of complex diseases may open the door to effective treatment and prevention.
Single-gene disorders are the result of a single-gene mutation. These disorders disrupt homeostasis early in development. They are rare, but the effects of these disorders are significant. They are also difficult to treat because of the complexity of the diseases. They have been linked to autism, mental retardation, schizophrenia, and attention deficit hyperactivity disorder.
Generally, complex disorders do not segregate in a Mendelian fashion. Instead, they tend to accumulate in families. They often result from a combination of genetic, environmental, and lifestyle factors. They can also be heritable.
There are two major types of genetic disorders: polygenic and single-gene. Polygenic disorders result from the combined effects of a large number of genetic variants. In addition, these disorders are more common than single-gene disorders.
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