Duchenne
Muscular Dystrophy
- Duchenne Muscular Dystrophy symptoms typically appear
before age 6 (Board 1). These symptoms can include fatigue, mental retardation,
muscle weakness, frequent falls, difficulty with motor skills and progressive
difficulty of walking.
- This genetic disorder is caused by a defective gene in a
muscle protein called dystrophin. This disease is inheritable and most often
affects males because of the way this disease is inherited.
- There is no known cure for this disorder. Even treatment
does not ensure any long-lived life. Most often, any treatment done is aimed at
controlling symptoms in order to maximize the quality of life. Additionally,
activity to help strengthen the muscles is encouraged.
- This disease leads to quickly worsening disability. “Death
usually occurs by age 23, typically from lung disorders” (Board 1).
Hemophilia
- People who have hemophilia typically have “prolonged
bleeding or oozing following an injury, surgery, or having a tooth pulled. In
severe cases, heavy bleeding occurs after minor trauma or even in the absence
of injury” (“Hemophilia” 1). Hemophilia is an inherited disease that is related
to the X chromosome.
- Hemophilia is caused by changes in the F8 gene
and F9 gene. This gene contains the instructions to make the protein that is
responsible for coagulation of blood. Coagulation of blood helps create blood
clots which normally help to prevent further blood loss.
- Hemophilia has no cure but can be managed
through medications that help to promote blood clotting.
- Hemophilia is more common in males than in
females.
Crohn’s Disease
- Abbreviated as IBD commonly in medical texts
- Chrohn’s disease manifests itself through
blockage of the intestine, sores and ulcers in the affected areas or
surroundings tissues such as the bladder, tunnels around the anus and rectum
called fistulas, nutritional deficiencies, anemia, arthritis, skin problems and
many other symptoms.
- Crohn’s disease is caused by “abnormal response by the body's immune system. The
immune system is composed of various cells and proteins. Normally, these
protect the body from infection. In people with Crohn's disease, however, the
immune system reacts inappropriately. Researchers believe that the immune
system mistakes microbes, such as bacteria that is normally found in the
intestines, for foreign or invading substances, and launches an
attack. In the process, the body sends white blood cells into the lining of the
intestines, where they produce chronic inflammation. These cells then generate
harmful products that ultimately lead to ulcerations and bowel injury. When
this happens, the patient experiences the symptoms of IBD” (“About” 1).
- Currently there is no treatment for Crohn’s
disease. The best thing that can be done is regular medical monitoring and
lessening of the symptoms through drugs, steroids, antibiotics and
anti-diarrhea medications.
- There is an inheritable risk for Crohn's disease especially "in families of Jewish ancestory" ("About" 1).
Down Syndrome
- Down syndrome is also known as trisomy 21.
- People who have down syndrome usually has
physical abnormalities such as a flat face, a small broad nose, abnormally
shaped ears, a large tongue and upward
slanting eyes with small folds of skin in the corners.
- Down syndrome is caused by nondisjunction of the
pair of number 21 chromosomes. This means that these chromosomes “fail to separate
during the formation of an egg (or sperm)… when the egg unites with a normal
sperm to form an embryo, that embryo ends up with three copies of chromosome 21
instead of the normal two. The extra chromosome is then copied in every cell of
the baby’s body” (“Down” 1).
- There is no cure for Down syndrome. However,
people can undergo physical therapy or speech therapy in order to help those
with this disorder live a more normal life.
- "Down syndrome is the most common genetic
disorder caused by chromosomal abnormality. It affects 1 out of every 800 to
1,000 babies” (“Down” 1).
Turner Syndrome
- Turner syndrome typically affects growth and
sexual development. Additionally, people affected by turner syndrome developed
as girls. Girls with this disorder are “shorter than normal, and may fail to
start puberty when they should. This is because the ovaries fail to develop
properly. Women with Turner syndrome appear to have a stocky appearance, arms
that turn out slightly at the elbow, a receding lower jaw, a short webbed neck
and low hairline at the back of the neck” (“Turner” 1).
- Turner syndrome is caused by a missing or
incomplete X chromosome. Normally, females inherit one X chromosome from their
mother and one X chromosome from their father. However, people with this
disorder only have one X chromosome. This is caused by nondisjunction where “a
pair of sex chromosomes fails to separate during the formation of an egg (or
sperm). When an abnormal egg unites with a normal sperm to form an embryo, that
embryo may end up missing one of the sex chromosomes… Because these girls only have
one X chromosome, these girls are missing important genetic information which controls
long bone growth and ovarian development.
- This disorder is treated with hormone
replacement therapy in order to reach normal height and also encourage normal
hair and muscle growth. However, the specific types of hormones vary from
androgens to estrogen depending on the desired result.
- This syndrome affects 60,000 females in the
United States.
Galactosemia
- Some of the symptoms of galactosemia include “kidney
failure, an enlarged liver, cataracts, poor growth and mental retardation” (“Galactosemia”
1).
- Galactosemia affects “the body’s ability to
break down a food sugar called galactose” (“Galactosemia” 1). This food sugar
is found in milk and other dairy products. These sugars are typically broken
down by the body and used for energy. This disorder is passed down in an “autosomal
recessive pattern. To get the disorder, a child must inherit one defective gene
from each parent. Inheriting one normal gene and one mutated gene makes a
person a carrier… Defects in galactose metabolism cause toxic chemicals to
build up in cells of the body” (“Galactosemia” 1).
- There is no cure for galactosemia. However a
very effective treatment is monitoring what someone is eating and having
dietary restrictions. Essentially, if someone with this disorder avoids foods and
drinks containing galactose, including milk, cheese, and legumes, then the disorder
does not manifest itself.
- This disorder affects every 1 in 55,000 newborns.
Huntington’s Disease
- Huntington’s Disease is often abbreviated as HD.
- Huntington’s Disease “affects the part of the brain that controls thinking, emotion and movement. Most people who have the disease start to see symptoms between the ages of 30 and 50. Some symptoms include poor memory, depression, mood swings, lack of coordination, twitching, etc.” (“Huntington’s” 1).
- Huntington’s Disease is inherited in an “autosomal dominant pattern. This means that everyone who inherits the faulty gene will eventually get the disease… HD is caused by a mutation in a gene on chromosome 4. The job of its protein product, huntingtin, is to direct the delivery of small packages to the outside of the cell. Normally the coding region of this gene contains the DNA sequence “CAG”… People with HD have an abnormally high number of the CAG triplets, approximately 40 or more (normal is 10 to 26 times)” (“Huntington’s” 1)
- There is no cure for Huntington’s Disease. Even any treatments that have been found do not slow the progression of the disease. Instead, they help make the patient more comfortable. Some possible “treatments” are medications and physical or speech therapy.
- In the United States, about 1 in every 30,000 people has Huntington’s disease.
