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

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

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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