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Genetic-Disorder

GENETIC DISORDERS

A genetic disorder is a condition that is caused by an abnormality in an individual's DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. To learn more about the different types of genetic disorders and see some specific examples, browse through the pages below

some of the signs of genetic disorder:

  1. Ear abnormalities
  2. Unusually shaped eyes
  3. Brittle or sparse hair
  4. Large or small tongue
  5. Loose or stiff joints
  6. Delayed growth
  7. Webbed fingers or toes
  8. Misshapen teeth
  9. Unusually tall or short stature

Genetic Disorders We Test For:

Sickle Cell

Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). ... The irregular sickled cells can also block blood vessels causing tissue and organ damage and pain.

Sickle cell anemia

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.

Symptoms

  1. Anameia
  2. Periodic pain
  3. Painful swelling of hands and feet
  4. Frequent infections.
  5. Delayed growth
  6. Vision problems

Chronic conditions

Unexplained episodes of severe pain, such as pain in the abdomen, chest, bones or joints.

Swelling in the hands or feet.

Abdominal swelling, especially if the area is tender to the touch.

Fever. People with sickle cell anemia have an increased risk of infection, and fever can be the first sign of an infection.

Pale skin or nail beds.

Yellow tint to the skin or whites of the eyes

Yellow tint to the skin or whites of the eyesy.

Complications

Sickle cell anemia can lead to a host of complications, including:

  1. Stroke. A stroke can occur if sickle cells block blood flow to an area of your brain. Signs of stroke include seizures, weakness or numbness of your arms and legs, sudden speech difficulties, and loss of consciousness. If your baby or child has any of these signs and symptoms, seek medical treatment immediately. A stroke can be fatal.
  2. Acute chest syndrome. This life-threatening complication causes chest pain, fever and difficulty breathing. Acute chest syndrome can be caused by a lung infection or by sickle cells blocking blood vessels in your lungs. It might require emergency medical treatment with antibiotics and other treatments.
  3. Pulmonary hypertension. People with sickle cell anemia can develop high blood pressure in their lungs (pulmonary hypertension). This complication usually affects adults rather than children. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.
  4. Blindness. Sickle cells can block tiny blood vessels that supply your eyes. Over time, this can damage the portion of the eye that processes visual images (retina) and lead to blindness.
  5. Organ damage. Sickle cells that block blood flow through blood vessels immediately deprive the affected organ of blood and oxygen. In sickle cell anemia, blood is also chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen. Organ damage can be fatal.
  6. Leg ulcers. Sickle cell anemia can cause open sores, called ulcers, on your legs.
  7. Gallstones. The breakdown of red blood cells produces a substance called bilirubin. A high level of bilirubin in your body can lead to gallstones

Prevention

If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. He or she can also explain possible treatments, preventive measures and reproductive options.

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.

Cystic fibrosis

Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.

Symptoms of CF

People with CF can have a variety of symptoms, including:

  1. Very salty-tasting skin
  2. Persistent coughing, at times with phlegm
  3. Frequent lung infections including pneumonia or bronchitis
  4. Wheezing or shortness of breath
  5. Poor growth or weight gain in spite of a good appetite
  6. Male infertility
  7. Frequent greasy, bulky stools or difficulty with bowel movements

Diagnosis and Genetics

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

  • 25 percent (1 in 4) the child will have CF
  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 5 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation.

There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

Advisory

To couple at risk of giving birth to a child with the the disease;
Diagnosing cystic fibrosis is done through a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation

Management

Cystic fibrosis are managed through a combination of the follwing therapies;
  1. Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.
  2. Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear.
  3. Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.
  4. An individualized fitness plan to help improve energy, lung function, and overall health
  5. CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

Tay-Sachs

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy

TAY-SACHS DISEASE

Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development. A child can only get Tay-Sachs by inheriting the gene for it from both parents. Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.

Screening/Prenatal Diagnosis

Couples who are considering having children — or are already expecting — can get screened for the Tay-Sachs gene with a simple blood test. If both the mother and father carry the Tay-Sachs gene, an obstetrician/gynecologist may refer the couple to a genetic counselor for more information.

Pregnant women can have their unborn babies tested for the HEXA deficit that causes Tay-Sachs disease: • If the tests do not detect HEXA, the infant will have Tay-Sachs disease. • If the tests do detect HEXA, the infant will not have it. Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis. Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus.

Signs and Symptoms

Kids are usually tested for Tay-Sachs after having hearing, sight, and movement problems.
  • A baby born with Tay-Sachs develops normally in the first 3 to 6 months of life. During the next months — or even years — the baby will progressively lose the ability to see, hear, and move.
  • A red spot will develop in the back of the child's eyes.
  • The child will stop smiling, crawling, turning over, and reaching out for things
  • By age 2, the child may have seizures and become completely disabled. Death usually occurs by the time the child is 5 years old.

In rare forms of the disease;

Those problems may not appear until the child is 2 to 5 years old. The disease progresses more slowly, but death usually occurs by the time the child is 15 years old.

In another, milder form of Tay-Sachs (called late-onset Tay-Sachs), the disease causes muscle weakness and slurred speech, but sight, hearing, and mental capabilities remain intact.


Helping a Child With Tay-Sachs

There is no cure for any form of Tay-Sachs disease. But doctors may be able to help a child cope with its symptoms by prescribing medicines to relieve pain, manage seizures, and control muscle spasticity.
If your child has been diagnosed with Tay-Sachs or both you and your partner are carriers of the gene, talk to your doctor or a genetic counselor about ongoing research. You also might seek support from a group such as the National Tay-Sachs and Allied Diseases Foundation or the March of Dimes Foundation.


FRAGILE-X SYNDROME

Fragile X syndrome also known as FXS, is caused by mutations in the fragile X mental retardation 1 (FMR1) gene. The FMR1 gene usually makes a protein called fragile X mental retardation protein (FMRP). FMRP is needed for normal brain development. People who have FXS do not make this protein.

FXS affects both males and females. However, females often have milder symptoms than males. The exact number of people who have FXS is unknown, but it has been estimated that about 1.4 per 10,000 males and 0.9 per 10,000 females have FXS.

Signs and symptoms

Fragile X syndrome have five general categories where individuals often show altered or arrested development.

  1. Intelligence and learning (low IQs)
  2. Physical (long face or jaw, short stature, enlarged testicles)
  3. Social and emotional (anxiety)
  4. Speech and language (stuttering and disorganized speech)
  5. Sensory (sensitive to certain stimuli like sounds, balance problems)

Generally people may experience:

  • Behavioural: aggression, hyperactivity, impulsivity, nonsense word repetition, repetitive movements, self-harm, or persistent repetition of words or actions
  • Developmental: learning disability or speech delay in a child
  • Muscular: flaccid muscles or problems with coordination
  • Also Common: large ears, speech impairment, anxiety, double jointed, enlarged head, enlarged testicles, flat feet, lazy eye, long thin face, prominent jaw, scoliosis, single line on palm, sleep disorder, sunken chest, or tremor

Helping a child with FXS

Currently, there is no cure for Fragile X syndrome nor are there any definitive treatments other than helping the individual develop to their maximal potential through education; therapies such as speech, language, behavioral, and physical; and other therapies. Fragile X detects FMR1 DNA (PCR or Southern blot methods)

  • Medication therapy may only help certain individuals with certain severe problems and should be prescribed only by the patients' doctors; there is no medication that can cure Fragile X syndrome.
  • Adults with Fragile X syndrome may benefit from a team approach to help the patient adjust to independent living, if possible.
  • If a family member has been diagnosed with Fragile X syndrome, other family members may want to be tested to determine if they carry a Fragile X chromosome; there are several accurate DNA tests available for gene testing (see above) and for determining the amount of FMRP produced. Prenatal tests are also available. Research is ongoing; gene therapy, gene activation, and FMRP replacement therapy are several areas that may lead to treatments, or possible cure or prevention, in the future.

Fragile X Syndrome

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.