What Illnesses are caused by a Genetic Disorder
Your DNA is the string of molecules used to carry your genetic
information. Therefore, your DNA is responsible for determining your
eye colour, your height, and even your natural human abilities. Unfortunately, a break
or disturbance in this genetic code can cause certain illnesses to develop. These are known as genetic disorders.
While genetic disorders are rare, it is worth knowing about the most common diseases. Here are the main illnesses caused by a genetic disorder.
DOWN SYNDROME
Down Syndrome, or Trisomy 21, is a genetic disorder that is caused by the individual developing one extra chromosome. As you can guess, this genetic disorder is picked up at birth. Your chromosomes are groups of genes that are responsible for allowing the body to form and function correctly.
The average human is born with forty-six chromosomes, whereas a patient with down syndrome has forty-seven. As a result, people with down syndrome will have common symptoms which include a flattened face, poor muscle tone, mild cognitive impairment, and chronic pain. Every individual with Down syndrome will experience a range of different symptoms, but these are the most common.
HUNTINGTON’S DISEASE
Huntington’s Disease is a degenerative brain condition that shuts down parts of the patient’s body over time. This genetic disorder is inherited by your parents, and the main symptoms do not show up later in life. Fortunately, there are tests available that can determine whether you are a carrier of the Huntington’s gene. A company like Source BioScience can perform a procedure known as sanger sequencing to identify whether there is a break in your DNA strain. This break could be an indicator of Huntington’s Disease. Symptoms of this illness include clumsiness, mood swings, mobility issues, and breathing difficulties.
TURNER SYNDROME
Turner Syndrome is a genetic disorder that affects the X chromosome, which means that it onlv shows up in female patients. This illness occurs whenever part of the X chromosome is damaged or missing. Again, this illness can be picked up through Sanger sequencing, but symptoms of Turner Syndrome are often apparent from birth. These symptoms include missing ovaries, reduced height, and heart complications.
FRAGILE X SYNDROME
Every gene in your body is responsible for different tasks. The Fragile X messenger gene is responsible for creating the protein needed for brain development. If drastic changes occur to this gene during early development, then patients can contract a genetic disorder known as Fragile X Syndrome. Fragile X Syndrome is mainly found in male patients, with one in four thousand men being affected by the disease. In contrast, only one in eight thousand women are born with Fragile X Syndrome. Symptoms of this disease include handshaking memory loss, cognitive impairment, mood swings, and numbness in the hands or feet.
SUMMARY
These are the most common genetic disorders that occur in humans. As you can see, many carry similar symptoms and there are no cures as vet for these diseases. Fortunately, there are scientific methods that can help identify these illnesses early.
