Genetic Disorders

Hemophilia

Definition: Your blood doesn't clot normally because it lacks sufficient blood-clotting proteins.
Average age of diagnosis: Less than 2 years.
Test used to detect: Blood test.
Located on chromosome: X
Autosomal or sex-linked: Sex-linked.
Symptoms: Nosebleeds, bruising, bleeding for no reason, blood in urine and stool.

Tay Sachs

Definition: A life-threatening disease of the nervous system passed down through families.
Average age of diagnosis: 3-6 months old.
Test used to detect: Blood test, body tissue test, or eye exam.
Located on chromosome: 15
Autosomal or sex-linked: Autosomal
Symptoms: Deafness, blindness, increased startle response,paralysis, seizures, slow development.

Sickle Cell

Define the Disease: A serious disorder in which the body makes sickle-shaped red blood cells.
Average Age of Diagnosis: Early infancy/At birth.
Test Used to Detect: Blood test.
Located on Chromosome: 11
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Anemia, episodes of pain, frequent infections, delayed growth.

Muscular Dystrophy

Define the Disease: A group of inherited disorders that involve muscle weakness and loss of muscle tissue.
Average Age of Diagnosis: 2-7 years old.
Test Used to Detect: Enzyme tests, genetic testing, muscle biopsy, heart-monitoring tests, lung monitoring tests.
Located on Chromosome: X
Autosomal or Sex-Linked: Sex-linked.
Symptoms of Disease: Frequent falling, difficulty getting up from lying or sitting, trouble, running, & jumping, walking on the toes, muscle pain and stiffness.

Colorblindness

Define the Disease: Inability to see certain colors in the usual way.
Average Age of Diagnosis: 5 years old.
Test Used to Detect: A Lantern test
Located on Chromosome: X
Autosomal or Sex-Linked: Sex-linked.
Symptoms of Disease: Trouble seeing colors and the brightness of colors in the usual way, inability to tell the difference between shades of the same or similar colors.

PKU

Define the Disease: A rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Average Age of Diagnosis: Early infancy.
Test Used to Detect: PKU Test.
Located on Chromosome: 12
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Seizures, tremors or jerky hand and leg movements, hyperactivity stunted growth, eczema, a distinct odor in breath, skin, or urine that is often described as musty.

Huntington Disease

Define the Disease: Disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.
Average Age of Diagnosis: 30-50 years old.
Test Used to Detect: Genetic test.
Located on Chromosome: 4
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: A decline in thinking & reasoning skills, loss of coordination and balance, slurred speech, jaw clenching or teeth grinding, difficulty swallowing or eating. poor judgment.

Dwarfism

Define the Disease: Short stature that results from a genetic or medical condition.
Average Age of Diagnosis: Infancy
Test Used to Detect: Examination of measurements, appearance.
Located on Chromosome: 4
Autosomal or Sex-Linked: Autosmomal
Symptoms of Disease: Bowed legs, scoliosis, kyphosis, back problems, top-heavy head in, comparison to the rest of the body, sleep apnoea.

Down Syndrome

Define the Disease: A genetic condition in which a person has 47 chromosomes instead of the usual 46.
Average Age of Diagnosis: Birth or shortly thereafter.
Test Used to Detect: Screening tests, diagnostic test.
Located on Chromosome: 21
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Flattened facial features, small head, short neck, upward slanting eyes, unusually shaped or small ears, excessive flexibility, short height.

Cystic Fibrosis

Define the Disease: A disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body.
Average Age of Diagnosis: 2 years old.
Test Used to Detect: Sweat test, newborn screening, carrier test.
Located on Chromosome: 7
Autosomal or Sex-Linked: Autosomal
Symptoms of Disease: Wheezing, breathlessness, repeated lung infections, intestinal blockage,  severe constipation.

Works Cited

Comment Stream