Choose a genetic disease and give the following information:
- Inheritance: autosomal recessive, autosomal dominant or sex-linked
- Symptoms and characteristics common to the disease
- Treatments
- Frequency of occurance in our population
- Is it more common in one culture group compared to others?
- Identify one support group families affected by this disease can go (ex. American Heart Assoc.)
One disease per person so please check other responses before submitting your own!
Suggested resources: http://learn.genetics.utah.edu/content/disorders/whataregd/ ; http://en.wikipedia.org/wiki/List_of_genetic_disorders
28 comments:
Turner Syndrome
Inheritance: Sex-Linked
Symptoms: Short Stature
Low Hairline
Low-Set Ears
Absense of Period
Increased Weight
Small Fingernails
Frequency: 1 out of 2500 girls
No. it is not more common in one specific culture group. Turner Syndrome can happen to anyone.
Support Group: Turner Syndrome Society of the United States
William's Syndrome
inheritance: broken chromosome from either parent; missing chromosome 7
Symptoms:mental retardation, heart defects, and unusual facial features (small upturned nose, wide mouth, full lips, small chin, widely spaced teeth). low birth weight, failure to gain weight appropriately, kidney abnormalities, and low muscle tone. hypersensitivity to loud noises and an overly outgoing personality
treatments:There is no cure for Williams syndrome. Patients must be continually monitored and treated for symptoms throughout their lives.
Frequency of occurence:One out of every 10,000 babies
No studies have been detected reguarding level of commonality amongst culture groups.
well known support group: The William's Syndrome Association
Down Syndrome
Inheritance: sex linked, non disjunction.
Symptoms: 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.
Treatments: No cure exists for Down syndrome. But physical therapy and/or speech therapy can help people with the disorder develop more normally. Screening for common medical problems associated with the disorder, followed by corrective surgery, can often improve quality of life.
Occurrence: 1 out of 800 babies.
Culture: Ending up with downs is an equal chance with all humans. There is no particular culture group more susceptible to it than others.
Group: Get involved in the American Heart Association.
erica vignola
Kleinfelters
Inheritance: sex-linked, nondisjunction
Symptoms/characteristics: trisomy, small testicle, very feminine, less facial and body hair, broader hips. Males can also have larger breasts and weaker bones.
Treatments: The pattern of chromosomes cannot be changed, but there are ways to help the symptoms. For example, teachers help during school, PT, OT, and speech.
Frequency: 1 in 2000 males.
Culture Group: No specific group is more common than others for getting Kleinfelters. This is a chromosomal disease that cannot be controlled.
Support Group: Kleinfelter Syndrome & Associates Inc.
Carly.
Edward's Syndrome
- Trisomy 18 is a genetic disorder in which a person has a third copy of genetic material from chromosome 18, instead of the usual two copies.
- Clenched hands, Crossed legs, Feet with a rounded bottom, Low birth weight, Low-set ears, Mental deficiency, Small head, Small jaw.
- Treatment of children with Trisomy 18 is planned on a case-by-case basis. Which treatments are used depends on the patient's individual condition.
- 1 in 3000 births
- more common in girls then boys.
- Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
Cri-du-Chat Syndrome
Inheritance: Sex linked
Symptoms: Small at birth
Respiratory Problems
Small head
unusually roud face
small chin
wideley set of eyes
folds of skin over eyes
small bridge of the nose
heart defects
muscular or skeletal problems
hearing or sight problems
poor muscle tone.
Frequency: 1 out of 20,000 babies
Cri-du-chat mostly occurs with the sperm cell.
Support Group: 5P-society support group
Hypothyroidism
Inheritance- acquired during early development
Symptoms- in young children with the inherited form of hypothyroidism, the condition affects growth and cognitive development. It may cause mental retardation, delayed puberty, stunted growth, and ataxia
in adulthood hypothyroidism slows the body's metabolism, making the patient feel mentally and physically sluggish. Symptoms may include weakness, fatigue, muscle aches, mood swings, hair loss, memory loss, or slow speech. A person's symptoms will depend upon how little thyroid hormone they produce, and for how long they have had the disorder.
Frequency-1 in 5000 people
support group- not found
Sickle cell disease.
inheritance: autosomal reccessive
Symptoms: Tired, weak, shortness of breath, pale, and dizziness.
Treatments: Bone marrow, antibiotics, pain reliever medication, and Hydroxyurea.
Frequency: 1000 babies are born with disease a year
Sickle cell is more common in tropical countries.
One support group for sickle cell is the American Sickle Cell Anemia Association
coeliac Disease
Inheritance - passed on usually through parents to fetuses.
symtoms- Chronic dirrea, failure to thrive ,fatigue
treatments- gluten free diet
Freguency in occurance is alot in our generation, but mostly in europe and usa
No but we are all at the same risk level
Christian Churches are most likely to help because they have gluten free products there
Andrew McCormick
Alzheimers Disease
Inheritance: autosomal dominant
Symptoms: forget words or names
trouble finding things
forget how to do simple tasks
they also feel nervous or sad
Frequency: 1 or 2 people out of 100 have alzheimers at age 65; 1 out of every 5 people has this disorder by age 80.
Support Group: alzheimer's association
alexa bertolini
GALACTOSEMIA
Inheritance: passed down in an autosomal recessive pattern
Symptoms: kidney failure, an enlarged liver, cataracts (clouding of the eye lens), poor growth, and mental retardation.
Treatment: dietary restrictions. People with the disorder must stay away from foods and drinks containing galactose, including milk, cheese, and legumes (dried beans).
Frequency: People can inherit a milder form of the disorder when a different gene, also involved in galactose metabolism, is mutated.
No, it's not more common in one specific culture group.
Support Group: Parents of Galactosemic Children, Inc.
Vivian Luk
Angelman syndrome
Inheritance: when a child inherits both chromosomes 15 from the father. this is called paternal uniparental disomy (UPD)
Symptoms:
intellectual and developmental delay
sleep disturbance
seizures
jerky movements; especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor
Treatments:
There is currently no cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications.
Frequency:
Swedish study showed of about 1/20,000 and the Danish study showed a minimum AS prevalence of about 1/10,000. School age children, ages 6–13 years, living in Sweden and from Denmark.
Support group:
ASSERT (Angelman Syndrome Support Education & Research Trust)
Brooke Singer
Canavan disease
Inheritance - When both parents are carriers, there is a 25% chance of having an affected child
Symptoms - mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone and poor head control
Treatment- there is no cure for Canavan disease
Frequency - 25 % if both parents have it.
Support group - MDJunction.com(people helping people)
Huntington disease
inheritance-Autosomal dominant
symptoms-in the beginning there are changes in personality. later the person is jerky, uncontrollable movement.
treatments-there is no cure but there are treatments that can lessen the symptoms
frequency-1 in 2,500 births
common-it is no more common in any region
support group- Huntington's Disease Society of America (HDSA)
Marfan Syndrome
Inheritance- autosomal dominant trait
symptoms- Marfan syndrome is present at birth, but symptoms may appear later in life. It mainly affects the connective tissue of the body, and the degree of symptoms may vary from patient to patient. People with Marfan syndrome tend to be tall and have thin skeletons. Arms, legs, fingers, and toes are disproportionately long relative to the rest of the body, and bones and joints may become brittle.
Frequency- 1 in 10,000
Treatment- Currently there is no cure for Marfan syndrome; symptoms are treated and lifestyle adjustments may be necessary. The outlook for patients has greatly improved as advances in medical knowledge have allowed for earlier diagnosis, identification of risk factors, and better management of the condition. It means that with early diagnosis and intervention, individuals with Marfan syndrome can experience a similar life expectancy as the average person.
Marfan Syndrome
Inheritance- autosomal dominant trait
symptoms- Marfan syndrome is present at birth, but symptoms may appear later in life. It mainly affects the connective tissue of the body, and the degree of symptoms may vary from patient to patient. People with Marfan syndrome tend to be tall and have thin skeletons. Arms, legs, fingers, and toes are disproportionately long relative to the rest of the body, and bones and joints may become brittle.
Frequency- 1 in 10,000
Treatment- Currently there is no cure for Marfan syndrome; symptoms are treated and lifestyle adjustments may be necessary. The outlook for patients has greatly improved as advances in medical knowledge have allowed for earlier diagnosis, identification of risk factors, and better management of the condition. It means that with early diagnosis and intervention, individuals with Marfan syndrome can experience a similar life expectancy as the average person.
Color Blindness
Inheritence: Sex linked.
Symptoms and characteristics: Complete colorblindness, unable to see any colors. protanopia, unable to distinguish red and green tones. Tritanopia, difficulty distinguishing blue and yellow tones.
Treatments: There is no treatment. Some lenses may be used to help distinguish colors better.
Frequency: more common in males.It affects about 8% of the population.
Yes, it is slightly more common in some cultures compared to others.
Support Groups: Red Cross
Phenulketonuria
Inheritance:autosomal recessive
Symptoms:brain damage, behavioral problems,small head, eczema, musty body odor, fair skin.
Treatments: eat a protein free diet.
Older children and adults have to stay away from protein rich foods(milk, eggs, cheese, nuts). They also avoid artificial sweeteners.(contains aspertame)
Turkey has the highest incidence rate in the world with 1 in 2600 births
Support group: Childern's PKU Network
Alexander Disease
-Inheritance:autosomal dominant
-Symptoms and characteristics:
Delays in developement of some physical, psychological, and behavioral skill, progressive enlargement of the head, seizures, spasticity, hydrocephalus, and dementia.
-Treatments: There is no cure or procedure to take care of the disease.
-Frequency: It is very rare. There has only been no more than 500 cases reported.
-Support Group: Australian Leukodystrophy Support Group Inc.
Hemophilia
-It is sex-linked
-External and internal bleedings that are usually uncontrollable.
-Most go through regular blood infusions
-1 in every 10,000 births but mostly in males
-It was once said to be common in royalty but no culture groups
-National Hemophilia Foundation
Sickle cell anemia
inheritance: autosomal recessive
Symptoms: Tired, weak, shortness of breath, pale, and dizziness.
Treatments: Bone marrow, antibiotics, pain reliever medication, and Hydroxyurea.
about 1000 babies are born with disease a year
Sickle cell is more common in african countries.
One support group for sickle cell is the American Sickle Cell Anemia Association
Color Blindness
Inheritance: Sex-Linked
Symptoms and Characteristics: When you are color blind you may not be able to see some colors, there are three main different color vision deficiencies. Monochromacy, dichromacy, and Anomalous trichromacy.
Treatments: There is no main treatment, but people wear contacts, or tinted lenses so they can see colors better.
It's more common in males than females.
Nick Lin
Neurofibromatosis Type 1
Inheritance: Caused by a mutation on the 17th chromosome.
Symptoms: Multiple tumors under the skin, bowed legs, scoliosis.
Treatments: There is no cure for the disease itself, only therapy. Surgery if the tumors spread to organs.
Frequency: Approximately 1 in 4000 individuals get this disease.
no: Neurofibromatosis affects males and females equally and is dominant. Only one copy of the affected gene is needed to get the disorder.
Support Group:The national Institute of Neurological Disorders and Stroke. (NINDS) http://www.ninds.nih.gov/index.htm
cry of the cat
-Inheratince: sex-linked
-Symptoms:•Cry that is high-pitched and sounds like a cat
•Downward slant to the eyes
•Low birth weight and slow growth
•Low-set or abnormally shaped ears
•Mental retardation
•Partial webbing or fusing of fingers or toes
•Single line in the palm of the hand
•Skin tags just in front of the ear
•Slow or incomplete development of motor skills
•Small head
•Small jaw
•Wide-set eyes
-1 out of 1000 men and 1 out of 2500 girls. no it is not more common in other cultures.
NEUROFIBROMATOSIS TYPE 1 (NF1)
Inheritance: Autosomal Dominant.
Symptoms: Many Many freckles and High blood pressure.
Treatments: There is no cure.
Frequency: If the parent has NF1 the child has a 50% chance of getting it.
Culture: No, mostly anyone can get it. it does not stay within one culture.
The National Neurofibromatosis Foundation, Inc.
Angelman syndrome
Symptoms:
sleep disturbance
development delay
jerky movements
Caused by deletion of chromosome 15.
Seizures, onset usually 3 years of age.
Maple Syrup Urine Disease
Inheritance: Autosomal recessive
Symptoms and Characteristics:A baby is diagnosed at a few days when the following symptoms occur- loss of appetite, fussiness, and sweet-smelling urine.
Treatments: Dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts. Also gene therapy is an option.
Frequency of occurance in our population: only 1 in 180,000 babies is born with MSUD.
It is more common in the Mennonites in Pennsylvania, as many as 1 out of every 176 babies is born with the disorder.
Support group: MSUD Family Support Group
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