What Are The Common Genetic Conditions?

Genetic conditions seem to be quite common. Millions of individuals appear to live with them. However, these conditions may be fatal in some instances. Genetic disorders seem to be the result of any DNA abnormalities. They may trigger significant health issues for patients. Although many cases appear to be inherited, there may be other causes. Unfortunately, many warning signs may go unnoticed until patients reach adulthood.

Treatment appears to vary based on the specific condition. Patients may receive hormone therapy for Turner syndrome. However, treatment for cystic fibrosis seems to include a lung transplant. Some patients may need thyroid medication for Down syndrome. What does appear to be clear is that patients should be aware of the common genetic conditions. This may help them recognize symptoms and receive the appropriate treatment.

Down Syndrome

Down syndrome seems to be a common genetic condition. In fact, it may be the most common. It appears to be the result of children receiving three copies of chromosome 21 instead of only two. Evidence indicates that this may happen by chance. The reason appears to be that it is rare for parents to have the same genetic defect. Symptoms of this condition seem to include thyroid issues, heart defects, intellectual disability, and physical deformities.

The intellectual issues appear to be a low IQ, slow learning, communication issues, and a short attention span. These signs seem to be mild during infancy. However, they can be quite noticeable as individuals age. Individuals with Down syndrome seem to have an iconic look to their face, including their eyes as well as skull shape and size. Patients appear to be at a high risk for many health issues. Some examples may include dementia, obesity, and low bone mass.

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Turner Syndrome

Turner syndrome appears to only affect females. This may be because it comes from issues with the X chromosome. This one seems to help determine gender. Specifically, patients may have a deformed or missing X chromosome. This syndrome does not appear to be inherited. It may not always present with symptoms. However, when it does, patients seem to have physical issues with development.

Common physical symptoms may include a webbed neck, low-set ears, and short height. Patients may also deal with heart defects and ovarian failure. The latter may mean that they cannot bear children. Intellectual symptoms seem to be rare. However, certain patients have issues with executive function tasks. The result may affect their ability to focus, stay motivated, and self-manage.

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Cystic Fibrosis

Cystic fibrosis seems to be the result of a mutation in the CFTR gene. This disease may be fatal for some patients. It appears to affect many organs and body functions. Patients with this gene defect seem to have issues with a protein that regulates fluids. Thus, their body may produce too much saliva, sweat, and mucus. This seems to cause the lungs to fill with fluid. Congestion in the lungs may trigger the most common symptom: breathing problems. Other warning signs appear to be abnormal growth, sinus issues, and impaired body development. Male patients seem to experience infertility.

This disorder may trigger several secondary health issues. One such example appears to be kidney failure due to dehydration from excessive sweating. Female patients seem to have a higher mortality rate. Unfortunately, the reason for this does not appear to be clear. Overall, cystic fibrosis may put individuals at a higher risk for bone conditions and diabetes.

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Alzheimer's Disease

Alzheimer's disease seems to be the leading cause of death from genetic conditions. Although it may be inherited, it does not always appear to be hereditary. Potential risk factors may include brain trauma and environmental causes. However, when it is inherited, patients seem to have one of three gene mutations. Alzheimer's disease may happen at any age, though onset appears to be the most common between thirty to sixty years old. The first symptom seems to be memory problems. Other symptoms may appear as the condition progresses. Examples may include issues with speech, movement, bodily functions, and other cognitive processes. The patient's memory also appears to degenerate over time.

Patients appear to be at risk of pressure sores and aspiration pneumonia. Both may contributing factors to the mortality rate in this condition. The latter seems to mean that patients inhale their food instead of swallowing it. This may trigger pneumonia in their lungs. Pressure sores appear to be the result of staying in bed for too long. They may increase the patient's risk of infections like sepsis.

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Huntington's Disease

Huntington's disease seems to be a neurodegenerative condition. Most cases appear to be inherited due to a mutation in the huntingtin gene. This gene may influence body development through a certain protein. Symptoms seem to vary widely. The intensity of them may also have a range. Most cases, however, appear to be mild when patients are young. In childhood, patients may have personality or mood changes start. This disease appears to worsen over time.

Symptoms may include concentration issues, memory lapses, and trouble learning new things. Involuntary movements may be common as well. These movements appear to be called chorea. Over time, patients may develop dystonia. This seems to refer to uncontrolled muscle spasms. Dementia may also set in over time. However, patients do not seem to deal with speech and language issues.