Overview Of Common Genetic Conditions

Genetic conditions are quite common. Millions of individuals live with one. However, some of these disorders are fatal! Genetic disorders include any condition resulting from DNA abnormalities. They often trigger significant health issues. Many genetic disorders are inherited, though some are due to environmental factors. Unfortunately, many more have unknown causes! Warning signs often go undetected until patients are adults.

Treatments vary based on a patient's specific condition and symptoms. Many individuals receive hormone therapy for Turner syndrome. Cystic fibrosis treatment often includes a lung transplant! In addition, thyroid medication for Down syndrome is quite common. Of course, patients must understand the common genetic conditions and which one they have first. This ensures that they obtain the most effective treatment!

Down Syndrome

Down syndrome is incredibly common! In fact, it is the most common genetic disorder. Children receive chromosomes in twos from their parents. However, children with this condition have a third copy of chromosome 21. This is what triggers Down syndrome! Research indicates that this happens by chance. Parents often do not have the same genetic defects! Symptoms of this condition include an iconic physical appearance, thyroid problems, speech issues, and heart defects. Patients often experience intellectual disabilities as well. Examples include slow learning, communication problems, a short attention span, and a lower IQ.

Most patients with Down syndrome have facial abnormalities. This includes in their skull shape and size, as well as in their eyes. The physical symptoms are apparent at birth, though the intellectual ones do not develop until later. Down syndrome patients are also at a high risk of many health problems. They include obesity, dementia, and low bone mass.

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Turner Syndrome

Turner syndrome is only found in females! The reason for this is because of the chromosome that it affects. The X chromosome helps determine gender! However, with Turner syndrome, it is compromised before birth. It will be missing or deformed! Turner syndrome is not often inherited. In addition, not all patients will display symptoms! Those who do, however, often develop physical abnormalities.

The most common symptom is a webbed neck! This means that patients have an excess skin fold around their neck. Other physical symptoms are low-set ears and a short height! Two other signs are heart defects, and ovarian failure, with the latter meaning patients often cannot have children. Some affected individuals have issues with some tasks. This can make it hard for them to focus, stay motivated, and practice self-management.

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Cystic Fibrosis

Cystic fibrosis is a severe genetic condition. Unfortunately, it is often fatal! This condition affects multiple organs throughout the body. It is the result of mutations in the CFTR gene. Defects here affects a protein responsible for regulating fluids in the body. They often mean that the body makes too much sweat, mucus, and saliva! Thus, patients often experience severe breathing problems. This is the result of mucus building in the lungs. Additional signs of this condition are abnormal growth and sinus issues. Many patients find that some body parts go through impaired development! Men with this condition deal with infertility.

This disorder triggers many secondary health problems, such as kidney failure. This issue stems from dehydration due to excessive sweating! Patients are also at a higher risk of conditions such as bone disorders and diabetes. Females with cystic fibrosis have a higher mortality rate. However, the reason for this is not clear!

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Alzheimer's Disease

Alzheimer's disease is the most common type of dementia! This genetic condition leads to the most deaths around the world. Many patients inherit this disorder. These cases are due to mutations in one of three genes. However, it is not always hereditary. Instead, it can come from other factors, including brain trauma and the environment. Alzheimer's disease commonly starts between thirty to sixty years old, though it can occur at any age!

One of the first warning signs of this condition is problems with memory. Many processes will be affected as the patient's brain degenerates. Examples include cognitive processes, speech, and movement! Unfortunately, this disease has a high mortality rate. Many patients die from complications. These complications include pressure sores and aspiration pneumonia. The latter occurs when patients inhale their food instead of swallowing it! Of course, pressure sores are the result of staying in bed for too long. Many pressure sores trigger infections. One of the major ones is sepsis!

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Huntington's Disease

Huntington's disease is another genetic condition. It is a neurodegenerative disorder caused by a huntingtin gene mutation. This is the gene that influences a crucial protein for proper development! Symptoms of this condition vary widely. Their severity does as well! Common signs include changes in mood or personality. They are noticeable when patients are young, though they are mild. These symptoms worsen as patients age!

Many patients experience cognitive impairments. Examples of these impairments include concentration issues, learning difficulties, and memory lapses. Many affected individuals also experience chorea. This refers to involuntary movements! Patients often deal with dystonia as their condition progresses. These are uncontrollable muscle spasms. In severe cases, patients experience dementia. However, unlike similar conditions, individuals with Huntington's disease do not have their language or speech skills impacted.