Disorders

Hemophilia: A rare disorder in which your blood doesn't clot normally because it lacks blood clotting protein  

Average age of diagnosis:9-15 years

Test used to detect: blood test

Located on chromosome: X

sex-linked

Symptoms: nosebleeds, blood in urine, nonstop bleeding from cut, lumpy large bruising

Tay Sachs: A rare disorder that destroys nerve cells in the brain and spinal cord

Average age of diagnosis: 3-6 months

Test used to detect: blood test

Located on Chromosome: 15

autosomal

Symptoms: deafness, blindness, seizures, slow growth, paralysis

Sickle Cell: A serious disorder in which the body makes sickle-shaped red blood cells

Average age of diagnosis: 3-6 months

Test used to detect: blood test

Located on Chromosome: 11

autosomal

Symptoms: shortness of breath, dizziness, headaches, coldness, pale skin, daundice

Muscular Dystrophy: A group of diseases that cause progressive weakness and loss of muscle mass

Average age of diagnosis: 7 years

Test used to detect: enzyme test

Located on chromosome:X

sex-linked

Symptoms: frequent falls, waddling, large calf muscles, muscle pain and stiffness, learning disabilities

Colorblindness: The inability or decreased ability to see color

Average age of diagnosis: 5 years

Test used to detect: Plate test

Located Chromosome: X

sex-linked

Symptoms: Difficulty know between different colors, not able to see shades, rapid eye movement in rare cases

Parkinson's: A disorder of the brain that leads to shaking (tremors) and difficulty with walking, movement, and coordination.

Average age of diagnosis: 40-60 years

Test used to detect: neurological exam

Located on chromosome 6,4

autosomal

Symptoms: Tremor, slowed movement, rigid muscles, speech change, loss of automatic movement

PKU: a rare condition where a baby is born without the ability to break down  phenylalanine

Average age of diagnosis: 3 months-43 years

Test used to detect: blood test

Located on chromosome: 12

autosomal

Symptoms: seizures, tremors, hyperactivity, stunted growth, eczema, intellecutual disablities

Huntington Disease: A disease that causes the progressive breakdown of nerve cells in the brain

Average age of diagnosis: 30-50 years

Test used to detect: genetic test

Located on chromosome: 4

autosomal

Symptoms: mood swings, depression, anger, poor judgment, loss of memory

Dwarfisim: Retricted growth of the body

Average of diagnosis: 3 years

Test used to detect: triple screen

Located on chromosome: 4

autosomal

Symptoms: restricted growth

Down Syndrome: A genetic condition in which a person has 47 chromosomes instead of  46

Average age of diagnosis: Birth

Test used to detect: blood test

Located on chromosome: 21

autosomal

Symptoms: poor muscle tone, small head, poor judgment, slow learning

Cystic Fibrosis: A disease that causes mucus to build up in the lungs, digestive tract, and other areas of the body

Average age of diagnosis: Birth

Test used to detect: blood test

Located on chromosome: 7

autosomal

Symptoms: Thcik spit, wheezing, breathlessness, decrease ability to exercise

Comment Stream