A genetic disorder is a condition that occurs as a result of DNA mutation. There are many different genetic disorders. You can find more information below.

What is a genetic disease?

Genetic diseases are a disease caused wholly or partially by a change in the DNA sequence that differs from the normal sequence. Genetic disorders can result from mutations in one gene (monogenic disorder), mutations in more than one gene (multifactorial inheritance disorder), a combination of gene mutations and environmental factors, or damage to chromosomes (changes in number or structure).

When we unlock the secrets of the human genome (the full set of human genes), we learn that almost all diseases have a genetic component. Some diseases are caused by mutations inherited from parents and present in a person at birth, such as sickle cell disease.

Other diseases are caused by acquired mutations in a gene or group of genes that occur throughout a person’s life. Such mutations are not inherited from a parent, but are caused by random or some environmental exposure (such as cigarette smoke). These include many cancers and some forms of neurofibromatosis.

What are genetic diseases?

While there are genetic disorders we haven’t even named yet, some include:

1- Albinism

Albinism is a group of genetic conditions in which a person has little or no melanin pigment in their skin, hair, and eyes. Albinism occurs in all racial and ethnic groups around the world. It is important for people with albinism to protect their skin and eyes from the sun and have their eyes checked regularly.

The genes for albinism are inherited from both parents, who may not be directly affected. However, there is no simple test to determine if a person carries a gene for albinism.

2- Angelman syndrome

Most people with Angelman syndrome have a missing or faulty gene called UBE3A . When this gene is faulty or missing, nerve cells in the brain cannot function properly, causing a host of physical and intellectual problems. In most cases, Angelman syndrome is not inherited from your parents, but can happen by chance at conception.

3- Ankylosing spondylitis

Ankylosing spondylitis is a type of arthritis that affects the joints and ligaments of your spine. ‘Ankylosing’ means rigid and ‘spondylo’ means vertebra. Ankylosing spondylitis can affect other large joints and may be associated with problems with your eyes, skin, intestines, and heart. Although there is no known cure for ankylosing spondylitis, treatment can relieve pain and other symptoms.

4- Apert syndrome

Apert syndrome is a genetic disease that affects about 1 in every 65,000 newborn babies. Usually no parent has this condition and the gene mutation occurred by chance.

The mutation causes the bones of the skull to fuse much sooner than normal, before the brain is fully grown. As the pressure in the brain grows, it pushes the bones of the head and face out of shape.

This brain compression can affect the intellectual development of the child. Apert syndrome also affects the hands and feet and a number of internal organs.

5- Charcot-Marie-Tooth (CMT) disease

CMT disease (sometimes called hereditary motor and sensory neuropathy) is not actually a single disease, but a group of genetic conditions that affect the nervous system.

Named after the 3 doctors who first described it (Charcot, Marie, and Tooth), CMT disease is a progressive condition, which means it tends to worsen over time. It affects people in different ways, but generally, CMT disease does not cause serious disability or reduce life expectancy.

6- Congenital adrenal hyperplasia

Congenital adrenal hyperplasia , or CAD, affects the adrenal glands. Sitting above the kidneys, these glands make hormones like the male sex hormones cortisol, aldosterone, and androgens.

In many cases, a person with CAD produces too many androgens and not enough cortisol and aldosterone. CAH can affect a child’s normal growth and development, including the normal growth of the genitals.

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7- Cystic fibrosis

Cystic fibrosis is a genetic disease that mostly affects the lungs and digestive system. It is caused by an error in a particular gene. As a result, the mucus produced by the lungs and intestines becomes thick and sticky.

For the disease to be passed from parents to children, both must have the faulty cystic fibrosis gene. Cystic fibrosis is usually detected in newborn babies with a newborn screening test known as the heel test .

8- Down syndrome

Down syndrome occurs when a baby is born with an extra (third) copy of chromosome 21. This is a genetic condition and not a disease. Like everyone else, people with Down syndrome differ in appearance, ability, and personality. But there are some health issues that many people with Down syndrome can share.

9- Duchenne muscular dystrophy (dmd disease)

Duchenne muscular dystrophy, also known as DMD disease , is a specific type of muscular dystrophy caused by a mutation in the DMD gene and belongs to the class of genetic diseases. The DMD gene helps produce a protein called dystrophin , which is important for muscle strength, support and repair .

People with Duchenne muscular dystrophy do not produce the normal form of dystrophin, meaning their muscles are more easily damaged and not working properly. The genetic mutation of the DMD gene is either inherited from the parents or is caused by a genetic change in the child.

10- Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a genetic condition that primarily affects the joints, skin, and walls of blood vessels. People with Ehlers-Danlos syndrome have very loose, hypermobile joints. Their skin is flexible and fragile. Ehlers-Danlos syndrome cannot be cured, but symptoms can often be managed.

11- Fragile X syndrome

People with fragile X syndrome have certain physical characteristics as well as intellectual disability, behavioral and learning difficulties. Fragile X is the most common inherited cause of intellectual disability and is also the most common known genetic cause of autism.

It affects one in 3600 men and one in 6000 women. Fragile X is caused by a change in a single gene, the FMR-1 gene. This gene helps create a protein essential for healthy brain development.

12- Hemochromatosis

People with hemochromatosis absorb too much iron from the gut, leading to iron overload. The human body controls iron levels by absorbing the right amount of iron from our food. There is no way to remove excess iron – the excess is stored in organs and joints throughout the body. This can cause damage to the liver, heart, and pancreas.

13- Hemophilia

Hemophilia is a bleeding disorder caused by a gene mutation. If you have hemophilia, your blood doesn’t clot properly, making it harder to control bleeding.

When a blood vessel is injured, special proteins in your blood called ‘clotting factors’ serve to control blood loss by plugging or patching the injury. People with hemophilia have a lower coagulation level than a normal coagulation factor.

14- Huntington’s disease

Huntington’s disease is an inherited condition that affects the nervous system. Although Huntington’s disease can occur at any age, symptoms usually do not appear until middle age. Huntington’s disease is progressive, meaning it gets worse over time. While there is no targeted cure, current treatment can relieve and reduce symptoms.

15- Klinefelter syndrome

Klinefelter syndrome , also known as XXY syndrome, and it affects men. Men with Klinefelter syndrome are unable to produce sperm or sufficient amounts of the male hormone testosterone for the body’s needs.

Low testosterone levels affect the development of male characteristics. The extra X chromosome also affects the ability to produce sperm. Men with this condition are almost always infertile as they do not have sperm in their ejaculate.

16- Marfan syndrome

Marfan syndrome is a disease that affects the connective tissue that strengthens and stabilizes your joints and muscles. It usually affects the limbs, but can also affect the spine, sternum, eyes, heart, and blood vessels.

It is usually inherited from a parent with the condition. People with Marfan syndrome had a restricted life expectancy in the past, but now people have a normal life expectancy.

17- Norofibromatosis

Neurofibromatosis is a genetic condition characterized by the growth of neurofibromas. They are usually a benign or non-cancerous type of tumor, although they can rarely be cancerous.

These neurofibromas can occur anywhere in the body where there are nerve cells. Neurofibromatosis cannot be cured, but it can be managed and many people with the condition can go about their lives normally.

18- Noonan syndrome

Noonan syndrome is a genetic condition that causes a distinctive appearance and a variety of health problems. People with Noonan syndrome may be mildly affected or more severely affected. How the disorder affects people with Noonan syndrome can change as they age.

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Noonan syndrome is caused by a genetic mutation in any of several different genes. In about half of all cases, the condition is inherited, but the parent who passes the condition on to their child may not even know they carry the defective gene because they show no symptoms of the disorder.

19- Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder that causes a variety of physical, intellectual, and behavioral problems. It is usually caused by a genetic error at the time of conception. It is rarely transmitted by a parent. Although there is no targeted cure, current treatment can help with symptoms, especially if diagnosed early.

20- Rett sendromu

Rett syndrome is a rare disorder caused by a mutation in a gene on the X chromosome and belongs to the class of genetic diseases. It is named after the doctor who first described it, Andreas Rett. The disorder is usually caused by a random genetic mutation rather than being inherited. It mainly affects girls. Treatment is for symptoms only.

21- Tay-Sachs disease

Tay-Sachs disease is caused by a deficiency of an enzyme necessary for your brain to function properly. This deficiency is caused by a problem with the HEXA gene. The genetic defect is more common in Ashkenazi Jews, a group of people whose heritage is from central and eastern Europe.

Tay-Sachs disease is an autosomal recessive disease, which means that a child must inherit faulty HEXA genes from both parents to have Tay-Sachs disease.

22- Mediterranean anemia (Thalassemia)

Mediterranean anemia (also known as thalassemia) is an inherited condition in which some of the hemoglobin is abnormal. Hemoglobin is a protein found in red blood cells that carries oxygen from the lungs to the rest of the body.

Thalassemia can be mild (often called thalassemia minor) or severe. Thalassemia that causes serious problems may be called thalassemia major, Cooley’s anemia, or Mediterranean anemia, depending on the genetic defect.

23- Tourette’s syndrome

Tourette’s syndrome is an inherited neurological disorder that causes people to make involuntary and uncontrollable vocal sounds and movements called tics.

Tourette syndrome usually begins between the ages of 2 and 21 and there is no cure for it, but it usually gets better as a person gets older. Some people show distinctive features in the early stages of adulthood.

24- Turner syndrome

Turner syndrome is a genetic disorder that affects some women and girls. It can cause problems with hearing, vision, and infertility, but it’s usually not a problem with intellectual abilities. Hormones can help overcome some problems. This disease does not affect girls and women.

25- Von Willebrand’s disease

Von Willebrand disease is a bleeding disorder inherited from genes you inherit from your parents. It is similar to the hemophilia we described above, but more common and usually less severe.

If you have von Willebrand disease, it means you either don’t have a clotting factor called von Willebrand factor or the factor isn’t working properly. The result is that it takes longer than usual for your blood to clot and the bleeding to stop.

26- Williams syndrome

Williams syndrome is a genetic condition that can cause developmental, learning, and health problems. Williams syndrome can cause delays in a child’s development and learning.

Williams syndrome cannot be cured completely, but current treatment can help manage symptoms, especially if started early.

How are genetic diseases diagnosed?

A doctor may suspect any genetic condition based on a person’s physical characteristics and family history, or the results of a screening test. may be suspicious. Genetic testing is one of several tools doctors use to diagnose genetic diseases.

Approaches to making a genetic diagnosis include:

physical examination

Certain physical features, such as distinctive facial features, may suggest a diagnosis of a genetic disorder. A geneticist will perform a thorough physical examination, which may include measurements such as the distance around the head, the distance between the eyes, and the length of the arms and legs.

Depending on the situation, special examinations such as nervous system (neurological) or eye (ophthalmological) examinations may be performed. The doctor may also use imaging studies such as x-rays , computed tomography scans, or magnetic resonance imaging (emar-MRI) to see structures in the body .

personal medical history

Information about an individual’s health, often at birth, can provide clues to genetic diagnosis. A personal medical history includes past health problems, hospitalizations and surgeries, allergies, medications, and the results of any previous medical or genetic testing.

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family health history

Because genetic conditions often run in families, information about the health of family members can be a critical tool for diagnosing these disorders. A doctor or genetic counselor will ask about the health of an individual’s parents, siblings, children, and possibly more distant relatives. This information can provide clues about the diagnosis and inheritance pattern of a genetic condition in a family.

Laboratory tests, including genetic testing

Molecular, chromosomal, and biochemical genetic tests are used to diagnose genetic disorders. Other laboratory tests that measure the levels of certain substances in the blood and urine can also help suggest a diagnosis.

Genetic testing is currently available for many genetic conditions. However, in some cases there is no genetic testing; either the genetic cause of the condition is unknown or a test has not yet been developed. In these cases, a combination of the approaches listed above may be used to make a diagnosis.

Even when genetic testing is available, the tools listed above are used to narrow down the possibilities (known as differential diagnosis) and select the most appropriate genetic tests to follow.

Diagnosis of a genetic disorder can be made at any time during life, from birth to old age, depending on when features of the condition appear and the availability of the test. Sometimes making a diagnosis can guide treatment and management decisions.

Genetic diagnosis can also indicate whether other family members are affected or at risk for a particular disease. Even when treatment is not available for a particular condition, getting a diagnosis can help people know what to expect and identify helpful sources of support and advocacy.

Genetics test

Genetic testing is a type of medical test that looks for changes in your DNA. DNA is an abbreviation for deoxyribonucleic acid. It contains the genetic instructions in all living things. Genetic tests analyze your cells or tissue to look for any changes.

How are genetic diseases treated?

Many genetic disorders are mainly caused by gene changes found in every cell in the body. As a result, these disorders often affect many body systems and many are incurable. However, approaches may be available to treat or manage some associated symptoms.

For a group of genetic conditions called inborn errors of metabolism that result from genetic changes that impair the production of certain enzymes, treatments sometimes include dietary changes or replacing the specific enzyme that is missing.

Limiting certain substances in the diet can help prevent the buildup of potentially toxic substances that are normally broken down by the enzyme. In some cases, enzyme replacement therapy can help compensate for the enzyme deficiency. These treatments are used to manage current symptoms and can help prevent future complications.

Treatment and management strategies for other genetic diseases are designed to improve certain symptoms associated with the disorder. These approaches vary by disorder and are specific to an individual’s health needs. For example, genetic diseases associated with a heart defect can be treated with surgery or a heart transplant to repair the defect.

Conditions characterized by defective blood cell formation, such as sickle cell disease, can sometimes be treated with a bone marrow transplant. A bone marrow transplant can allow the formation of normal blood cells and, if done early in life, can help prevent episodes of pain and other future complications.

Some other details

Some genetic changes are associated with an increased risk of future health problems, such as certain types of cancer. A well-known example is familial breast cancer associated with mutations in the BRCA1 and BRCA2 genes. Management may include more frequent cancer screening or preventive (prophylactic) surgery to remove the tissues most at risk of becoming cancerous.

Genetic diseases can cause serious health problems that are incompatible with life. In the most severe cases, these conditions can cause the affected embryo or fetus to miscarry.

In other cases, affected babies may be stillborn or die shortly after birth. While few treatments exist for these severe genetic conditions, healthcare professionals can often provide the affected person with supportive care, such as pain relief or mechanical respiratory assistance.

Most treatment strategies for genetic disorders do not change the underlying genetic mutation; however, a few disorders can be treated with gene therapy. This experimental technique involves changing a person’s genes to prevent or treat a disease. Gene therapy is being studied in clinical trials, along with many other treatment and management approaches for genetic diseases.

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