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Achondroplasia
Cystic Fibrosis
Sickle cell
Tay-Sachs
Hunginton
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Sickle cell anemia is an inherited form of anemia — a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body.
Cystic fibrosis is a life-threatening disorder that causes severe damage to the lungs and digestive system.
An inherited condition, cystic fibrosis affects the cells that produce mucus,
Tay-Sachs disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child's brain and affect the nerve cells.
Huntingtons disease is an inherited disease that causes the progressive breadown of nerve cells in the brain. Huntingtons disease has a broad impact on a persons functional abilities and usually results in movement thinking and psychiatric disorders
-decreased muscle tone
-apnea
-hydrocephalus
-spinal stenosis
...also...
-struggle with obesity
-develop bowed legs
-develop new or more severe spinal stenosis
Signs and symptoms of sickle cell anemia often don't appear until an infant is at least 4 months old and may include:
-anemia
-episodes of pain
-hand-foot syndrome
-frequent infections
-delayed growth
-vision problems
A persistent cough that produces thick spit (sputum) and mucus
Wheezing
Breathlessness
A decreased ability to exercise
Repeated lung infections
Inflamed nasal passages or a stuffy nose
deafness.
blindness.
decreased muscle tone.
increased startle response.
paralysis or loss of muscle function.
seizures.
-involuntary jerking
-muscle problems
-slow or abnormal eye movements
difficulty organizing
-lack of flexibility
lack of awareness
-feelings of irritability
-social withdrawal
-insomnia
About 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children.