Most Common Genetic Disorders

November 28, 2019
Janelle Thomas MSN, RN
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Your DNA makes up the chemical buildup of your entire existence. It’s like strings of genetic code in the smallest atoms of your body. It determines your hair and eye color, facial features, and other physical characteristics, but the slightest change to your DNA can make a significant impact. Thus is the case with genetic disorders.

Genetic disorders occur when there are gene abnormalities – including gene mutations or an additional chromosome. While genetic disorders are uncommon, some abnormalities occur more often than others.

The 7 Most Common Genetic Disorders

1. Down Syndrome

When the 21st chromosome is copied an extra time in all or some cells, the result is Down syndrome – also known as trisomy 21. In the US, this occurs in about one out of every 700 babies. While most people with Down syndrome can live normal lives, they may experience some symptoms, including:

  • Physical growth
  • Characteristic facial features
  • Mild to moderate intellectual disability

2. Cystic Fibrosis

Inherited when both parents contain the cystic fibrosis gene, the genetic disorder causes patients to produce thick and sticky mucus – inhibiting their respiratory, digestive, and reproductive systems. More than 30,000 people nationwide have cystic fibrosis, and their symptoms may include:

  • Very salty-tasting skin
  • Persistent cough
  • Frequent lung infections – like pneumonia or bronchitis
  • Wheezing or shortness of breath
  • Poor growth or weight gain
  • Frequent greasy, bulky stools
  • Difficulty making bowel movements
  • Male infertility

3. Thalassemia

Part of a hereditary genetic condition, thalassemia limits the amount of hemoglobin an individual can naturally produce. There are two types of thalassemia based on which oxygen-carrying protein in the red blood cells is lacking – alpha and beta. About 100,000 babies are born each year with the genetic disorder, and some of the common symptoms include:

  • Severe anemia
  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Abdominal swelling
  • Dark urine

4. Sickle Cell Anemia

Sickle cell anemia is a lifelong genetic condition passed down from both parents. It causes red blood cells to change from their usual donut shape to a sickle shape – causing them to clump together and become caught in blood vessels. Approximately 100,000 Americans are affected by the disease, with common signs including:

  • Severe pain
  • Frequent infections
  • Organ damage
  • Acute respiratory syndrome
  • Swelling of hands and feet

5. Huntington’s Disease

Huntington’s disease causes certain nerve cells in the brain and central nervous system to degenerate. This causes dementia and other complications and usually doesn’t develop until the person is in their 30s and 40s. It’s estimated that one in 10,000 Americans will experience the genetic disorder. The most common symptoms include:

  • Involuntary jerking
  • Slow or abnormal eye movement
  • Difficulty speaking or swallowing
  • Lacking impulse control
  • Diminished awareness of one’s own behavior and abilities
  • Difficulty learning new information or processing thoughts
  • Depression
  • Insomnia
  • Fatigue

6. Duchenne’s Muscular Dystrophy

Also known as DMD, Duchenne’s muscular dystrophy causes flaws in the gene that controls the health of muscles. The disease primarily impacts males, with one in 3,500 male births resulting in a child with the disorder. The condition impacts a child around three to six years old and causes the following symptoms:

  • Difficulty rising from a lying or sitting position
  • Fatigue
  • Large calf muscles
  • Muscle pain and stiffness
  • Scoliosis
  • Contractures
  • Headaches
  • Trouble concentrating

7. Tay-Sachs Disease

Like Down syndrome, Tay-Sachs results from a defect in the 15th chromosome. It’s typically fatal when found in children, as it gradually destroys the nervous system – resulting in death by the age of five. About every one in 27 Jews in the US is a carrier of the gene. Common symptoms include:

  • Loss of motor skills
  • Exaggerated reactions to loud noises
  • Seizures
  • Vision and hearing loss
  • Muscle weakness
  • Movement problems

Contact Care Options for Kids For Pediatric Home Health Care

It can be hard to balance your time between work, home, and caring for a child who has a genetic disorder. Homecare providers offer the support you or your loved one needs.

That’s why our team of skilled professionals at Care Options for Kids are here to help. Our home care services offer support in the comfort of your home. We refer loving and competent caregivers to provide customized care for families – from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.