Inherited disorders

Time to demonstrate your research skills.  Chapter 2 briefly discusses genetic disorders.  Pick a disorder from one of the three categories discussed…Multifactorial, Chromosomal, or Inherited disorders.  Table 2A-1 and Table 2A-3  are great starting points, but feel free to not limit yourself to only these disorders.

While doing your research,  answer the following:

1. Describe your disorder and its prevalence rate (who does this disorder seem to affect the most?).
2. Explain what causes your disorder.
3. What problems, symptoms, or characteristics does your disorder cause?
4. What (if any) treatments are available for your disorder?
5. What kind of life can a person with your disorder expect?
6. What shocked you the most about this disorder? And/or what new information did you gain?

Writing Guidelines:

Responses must be in complete paragraphs. Be sure to cite where you obtain your information from within the body of your writing as well as a concluding Reference list. Failure to properly cite sources is grounds for plagiarism and an Academic Integrity Section.  Refer to the Module labeled “APA Formatting Guide” for assistance with APA format.  Points will be deducted for incorrect APA formatting.  Response length needs to be at minimum three paragraphs. Proofread!

Inherited disorders

Introduction

Inherited disorders are genetic conditions that affect a person’s body. These can be diseases or disorders, but often they aren’t apparent until the carrier starts showing symptoms, such as fatigue or mental impairment.

Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disease that causes your body to produce thick mucus, which can make it more difficult for you to breathe. It’s passed down through families, and can be treated with antibiotics if caught early enough. CF is a life-long condition that affects your lungs, liver and digestive system.

Tay-Sachs disease

Tay-Sachs disease is an inherited disorder caused by a lack of an enzyme called hexosaminidase A. This enzyme is needed to break down GM2 ganglioside, which is found in the brain and nervous system. It’s passed down through families in a pattern that can be traced back to parents, grandparents and great-grandparents. The most common symptom of tay-sachs at birth is loss of vision associated with enlarged optic nerves that look like “white doughnuts.”

In addition to these symptoms, there may also be issues with hearing or speech development as well as muscle weakness on one side (hemiplegia). In some cases there may be no physical symptoms at all until later childhood or adulthood when other problems develop such as diabetes mellitus type 1 due to insulin resistance caused by decreased production levels at certain sites called pancreatic beta cells within your pancreas where insulin was originally produced by healthy tissue called duodenum section 6c

Hemochromatosis

Hemochromatosis is a condition that causes your body to absorb more iron than it can safely use. Iron overload causes damage to many organs, including the heart and liver. While there is no cure for hemochromatosis, you may be able to manage your symptoms with treatment options such as bloodletting and medications.

What Is Hemochromatosis?

Hemochromatosis is a genetic disorder that results from having too much iron in your body. This excess iron can build up in various tissues throughout the body (including bone marrow), leading to damage over time if left untreated—but early detection allows doctors to treat this condition before it becomes serious enough for its effects on organs like the liver or heart become apparent

Leber’s Hereditary Optic Neuropathy

Leber’s Hereditary Optic Neuropathy (LHON) is a genetic disorder where the optic nerve develops scar tissue and degeneration. The vision loss that occurs in LHON is not reversible, but there are treatments available to help reduce the symptoms of the disease.

If you have this condition, it’s important to see an eye doctor as soon as possible so they can determine if you need treatment for your eyes. If your condition is severe enough that it affects how you see things clearly or simply makes them blurry at times, then seeing an eye specialist will likely be necessary sooner rather than later. In addition to treating any vision problems caused by LHON (which might include blurred or doubled vision), some doctors may recommend wearing glasses when reading or driving due to their inability to focus on objects sharply enough without assistance from corrective lenses such as bifocals or trifocals

Gaucher disease

Gaucher disease is an inherited disorder that affects the spleen, liver and bone marrow. It’s caused by a defect in one of five genes. The disease can cause serious health problems if left untreated, such as inflammation of the skin (necrotizing vasculitis) and damage to internal organs like bones or heart valves.

Gaucher disease is also called “spherocytosis” because it causes red blood cells called spherocytes—which look like spheres—to be produced abnormally when they should be rounder instead.

Don’t let your family’s genetics hold you back.

Genetics are not destiny. They can’t tell you that you’ll have a certain disease, or even if your child will have a common disorder such as cystic fibrosis or Down syndrome. Genes are only part of the story when it comes to your future health and wellness, but they’re still incredibly important because they help shape who we are as individuals and how we interact with the world around us.

Genetics don’t guarantee anything; instead, they give us information about what may lie ahead for us in life—and there’s nothing wrong with that! While genetics do play an important role in determining our health outcomes (such as whether or not someone develops Type 1 diabetes), there’s no guarantee that having one set of genes means that person will end up with another set of genes at some point down the road—or vice versa! Your personal experiences matter much more than any one particular piece of DNA does; what matters most is how well you take care of yourself over time so that these things happen naturally for everyone involved: family members included.”

Conclusion

While the list of genetic diseases is long, there are many that can be treated or prevented. You may not have inherited any of these conditions yourself, but you can help your family members by getting tested for these disorders and talking with them about their options.