Guide To Common Genetic Conditions

Genetic conditions are a common occurrence in the general population. While millions of individuals are currently living with these conditions worldwide, many are also dying from them. A genetic condition is any disorder caused by abnormalities in an individual's DNA. These disorders can lead to severe health problems and even death for those dealing with them. While they are often inherited from family members, the cause is either environmental or unknown in many cases. The warning signs of genetic disorders sometimes go unnoticed until adulthood. 

Many patients need hormone therapy for Turner syndrome. However, most cystic fibrosis treatments include a lung transplant. Another example is thyroid medication for Down syndrome. Ultimately, treatment for genetic conditions varies based on which one an individual has as well as the symptoms and complications it causes. Thus, patients need to know about the most common genetic conditions to receive the best treatment.

Down Syndrome 

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Down syndrome is the most common genetic condition. When a child is born, they inherit chromosomes from their parents in pairs of two. Those with this disorder have a third copy of chromosome 21, instead of the usual two. This is believed to happen by chance, as the parents rarely have the same genetic defects. Down syndrome's common symptoms include mild to moderate intellectual disabilities, physical deformities, heart defects, thyroid dysfunction, and other abnormalities within the body.

Intellectual symptoms include difficulties with communicating, slow learning, low IQ, and a short attention span. These symptoms are often not as noticeable during infancy. However, they become more pronounced in early childhood and adolescent years. Physical deformities can vary widely between individuals with Down syndrome. Facial abnormalities, such as differences in skull shape and size, are the most common. Patients are also at a high risk of other health problems, including low bone mass, celiac disease, obesity, and various forms of dementia, such as Alzheimer's disease.

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Turner Syndrome 

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One genetic condition that is known for only affecting females is Turner syndrome. This disorder is a result of the absence or deformity of a chromosome within the female body. In this condition, the X chromosome, one of the chromosomes that determine gender, is formed only partially or is completely missing before birth. Turner syndrome is not normally an inherited disorder. While not all individuals with it will have symptoms, those who do typically have physical development abnormalities. 

A webbed neck, which is an excess skin fold around the neck, is the most common physical symptom. Compared to normal individuals, the ears of Turner syndrome patients are often lower, and their height is shorter. Many other physical symptoms, including heart defects, are sometimes present. Ovarian failure is also common, which normally means that Turner syndrome patients are unable to have children. Although intellectual symptoms are rare, some individuals may have trouble with executive function tasks. This can affect a patient's ability to organize, self-manage, focus attention, and maintain motivation. 

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Cystic Fibrosis

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Cystic fibrosis is a potentially fatal genetic disease. It can affect multiple organs and areas of the body. Cystic fibrosis is caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Defects in this gene affect the production of a protein that regulates many fluid substances. As a result, the body sometimes produces too much mucus, saliva, sweat, and other fluids. This can lead to problems with breathing because the lungs become congested with mucus. Other symptoms include sinus problems, abnormal growth, and impaired development of body parts. Men with this condition experience infertility. 

Many of the health problems caused by this disorder are secondary to the genetic defect. For example, dehydration from excessive sweating can cause kidney failure or other problems within the organs. Females with this condition tend to have a higher mortality rate for unknown reasons. Cystic fibrosis patients are at increased risk for other diseases, such as diabetes and bone disorders. 

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Alzheimer's Disease 

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Alzheimer's disease is the genetic condition that leads to the most deaths worldwide. Children often inherit it from their parents. However, it is not always hereditary. Environmental causes and brain trauma are believed to play a role in some individuals with this disorder. In inherited cases, mutations in any one of three different genes are believed to be the cause. This condition can occur at any age. However, it typically starts between thirty to sixty years old. 

Memory problems are often one of the first symptoms. As areas of the brain degenerate and a patient's condition worsens, movement, speech, bodily functions, and cognitive processes can all be affected. At its worst, this condition can result in death. Two causes of death in Alzheimer's disease patients are aspiration pneumonia and pressure sores. Aspiration pneumonia can occur when patients who have trouble swallowing food inhale it instead, which causes pneumonia in the lungs. Pressure sores are skin sores caused by being immobile in bed too long. This sometimes leads to different types of infections, such as sepsis. 

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Huntington's Disease 

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Huntington's disease is a neurodegenerative disorder. In most cases, it is inherited. This disorder is caused by a mutation in the huntingtin (HTT) gene. This gene influences a protein that is crucial for proper body development. The type and severity of Huntington's disease symptoms can vary widely. However, in most cases, symptoms are often mild during childhood. Mood or personality changes may be obvious during this time. As Huntington's disease progresses during early to mid-adulthood, symptoms often become more severe and noticeable. 

The symptoms may include cognitive impairments, such as difficulties with learning new things, concentration problems, and occasional memory lapses. Chorea, a form of involuntary movements, is a common symptom of Huntington's disease. Once the disease worsens, some patients experience dystonia. These are uncontrollable muscle spasms in the upper body. A more severe type of memory loss can also occur, as well as symptoms of dementia. However, unlike other common neurodegenerative diseases, speech and language skills are often unaffected in Huntington's disease, even when other symptoms are severe.

HealthPrep Staff