Rare Disease Quiz

By: Kate Kershner

Rare Disease Quiz
Image: Zephyr/Getty Images

About This Quiz

While each rare disease only affects a small number of people itself, rare diseases as a whole are a serious threat to public health. Learn a little about some diseases that may not get big headlines, but present global problems.
What is considered a "rare" disease?
a disease that affects fewer than 200,000 people
The United States uses the less-than-200,000 definition.
a disease without a cure
a disease that affects less than one in a million people

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How many rare diseases are there?
20000
6800
The National Institutes of Health estimates about 6,800 rare diseases.
1400

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What is another name for rare diseases?
unusual illness
orphan disease
Many drugs used to treat rare diseases are also called orphan drugs.
standalone sickness

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When was the last time a rare disease was discovered?
2014
2015
new, rare diseases are discovered every year
Just because they're rare doesn't mean there isn't quite a few of them.

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What are most rare diseases caused by?
the environment
genes
Most rare conditions are caused by a genetic mutation, although environmental factors can also cause or affect rare diseases.
accidents

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How many genes are in a human cell?
17
10000
30000
That's a lot of genetic material that can mutate.

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A third of people with rare diseases take how long to get a diagnosis?
a year
a year to five years
That's an extremely long time to live with a anonymous disease.
They never get a correct diagnosis.

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Why are rare diseases and drugs nicknamed "orphans?"
Pharmaceutical companies abandoned funding for them, due to the relative low profit from such a small patient group.
Devastatingly, medicines that could potentially help or cure rare diseases were denied funding or access because the cost was prohibitive to profit.
They were lonely.
They had no genetic "parent" disease.

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What did the 1983 Orphan Drug Act do?
punished pharmaceutical companies
guaranteed access to drugs
created incentives and tax credits for research and manufacture of orphan drugs.
A lot more folks were given access to drugs.

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From 1973 to 1983, how many orphan drugs were developed with government assistance?
450
200
10
A frighteningly low number

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After 1983, how many drugs have been developed?
45
250
Which have the potential to treat 13 million Americans.
4000

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Let's jump into some rare diseases to discover more about them. Speaking of jumping, what is the name of one rare disease?
Jumping Frenchman of Maine disease
The disease causes an extreme startle response and was named because it affected some lumberjacks in Maine and Quebec.
Leaping Lords disease
Pouncing Cat disease

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Some rare diseases are ones you actually might be familiar with. Which is NOT a rare disease?
cystic fibrosis
Lou Gehrig's disease
Alzheimer's disease
Both cystic fibrosis and Lou Gehrig's are considered rare diseases.

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While we think of cancer as a common disease, there are many forms of rare cancers. What is one?
skin
lung
ovarian
Only 1 percent of cancer diagnoses are ovarian cancer.

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Name the (real) rare disease.
Hurting Hands Disorder
Painful Legs and Moving Toes Syndrome
PLMT is an extremely painful and rare disorder.
Awkward Movement and Flinching Pain Disorder

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What cuddly acronym is given to a very not-cuddly rare disease?
KITTEN
PANDAS
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) causes or worsens obsessive compulsion or tics in children after a strep infection.
FLUFF

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What is another rare disease with a provocative name?
distant pancreas
wandering spleen
Wandering spleen occurs when the spleen is not held in place by the normal ligaments.
traveling throat

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Let's see how good we are at medical terms. What is the clinical name when one of the blood vessels that supplies blood to the brain doesn't develop?
Internal carotid agenesis
Internal carotid (or blood vessel in the neck) agenesis (a failure for something to develop)
neuro antihemo
brain vessel gone

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Some rare diseases affect disparate parts of the body. What is one disease that causes abnormalities in different regions?
hand foot genital syndrome
A very rare condition, it affects the fingers, feet and can cause a variety of genital and urinary tract abnormalities.
thumb liver craniofacial syndrome
elbow knees and toes syndrome

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Hantavirus is caused by what?
a genetic mutation
bad smog
contact with rodent saliva, urine or droppings
Unlike a lot of rare diseases, hantavirus is a respiratory disease caused by environmental contact.

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What is one rare disease named, due to an abnormality that gives the iris a "keyhole" appearance?
alien eye syndrome
cat eye syndrome
Although not everyone with the syndrome presents ocular abnormalities.
Margaret Keane syndrome

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Parry Romberg syndrome causes what?
autoimmune weakening
small ears
atrophy of the facial skin, tissue and muscles
No one is certain what causes the syndrome.

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Autosomal dominant hyper IgE syndrome (AD-HIES) causes blisters, rashes and scaling of the skin. What was it formerly called?
snaking disorder
leprosy
Job syndrome
Named from Job in the Old Testament, who was tested with boils.

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Kinky hair disease is now called Menkes disease, but it led to sparse, kinky hair. What caused it?
a genetic condition that affects copper levels in the body
While it is genetic, there is some evidence that copper treatment might improve prognosis.
too much protein
not enough calcium

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Proteus syndrome causes what?
an ability to swim better
tumor growth and bone and skin abnormalities
Named after the shape-changing sea god of Greek mythology.
webbed feet

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Gigantism is caused by:
an overactive pituitary gland
overproduction of growth hormones
both
A non-cancerous tumor at the pituitary gland often causes the excessive growth hormones.

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It has been speculated that Abraham Lincoln suffered from what rare disease?
Marfan Syndrome
MEN2B
both
While Marfan is a disorder of the connective tissue, MEN2B is a cancer-causing genetic disorder that causes bone overgrowth.

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Cold urticaria causes what?
an allergy to a sinus infection
a growth that increases with contact with the cold
an allergy to cold air or water
Cold air or water can cause itchy rash or hives, or even swelling of the throat or tongue.

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Rapid aging is seen in the rare disease:
maturation abundance
elderly growth syndrome
progeria
Progeria causes extremely fast aging that causes premature death in children and teens.

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To raise awareness about rare diseases, the National Institutes of Health sponsors:
Rare Disease Day
The last day in February every year, the day includes information and presentations to raise the profile of rare diseases and the people who live with them.
a carnival
a Formula One racing team

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