Inability to mount initial IgM response to the capsular polysaccharides of pyogenic bacteria.
|Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals.||Teratogenic problems What are chromosomal abnormalities? Chromosomal abnormalities in the baby may be inherited from the parent or may occur with no family history.|
|Genetic Disorders: MedlinePlus||Although the majority of these diseases are rare, in total, they affect millions of Americans.|
Reviewed by our Medical Team — There are many theories about why genetic diseases occur. There are four different types of genetic disorders. They are [ 1 ]: Single-gene is mutated Chromosomal changes-entire areas of the chromosome can be missing or misplaced.
The maternal genetic material in mitochondria can mutate as well. We know that some ethnic groups are pre-disposed for certain genetic disorders people originating in the Mediterranean areas of Europe, for example are more likely to have a form of anemia that is genetic—the thalassemias.
In SCA, the mutation that causes the red blood Genetic disorders to change shape also helps minimize infection with the malarial parasite. The effect of this is breathing difficulties and recurrent lung infections. It also involves problems in digestion and in reproduction. The symptoms vary from relatively mild to severe.
CF is most common in Caucasians, particularly in Ashkenazi Jews, but is found in all ethnic groups. Down Genetic disorders affects about 1 out of newborn babies.
It can be detected by pre-natal testing. There is a pattern of features some of which are usually immediately apparent at birth—these include facial characteristics, decreased muscle tone, heart and digestive system defects and developmental delays.
Children with Down Syndrome are variably affected, the affects ranging from mild to moderate to severe.
Any ethnic group can be affected and it is most often associated with increased age of the mother. The delays and cognitive difficulties can range from very mild to severe and are sometimes associated with autism. In Fragile X syndrome, part of the X chromosome can break apart.
The area on the X chromosome that causes the fragility can be repeated on that chromosome—the more the number of repeated areas, the greater the fragility and the more serious the syndrome. These clotting problems can result in too much bleeding and the formation of abnormal clots throughout the body, most commonly in the veins.
The most common is the Factor V Leiden abnormality and can be particularly a problem in pregnancy, leading to pre-eclampsia, small-for-gestational-age babies, stillbirths and problems with the placenta.
Hemophilia is a well-known clotting disorder—the most common types are Hemophilia A where there is a lack of clotting factor VIIIHemophilia B where there is a lack of clotting factor IX and Von Willebrand disease where there is a lack of the Von Willebrand clotting factor.
Symptoms of all these clotting disorders include[ 9 ]: Excessive bleeding of the gums, nose, gastrointestinal system and bleeding into the joints Abnormal menstrual bleeding Skin rashes Familial combined hyperlipidemia and Familial hypercholsterolemia These are inherited disorders that result in an increase in blood lipids and cholesterol.
These disorders predispose to obesity, glucose intolerance and diabetes, strokes and heart disease. Treatment includes lifestyle and dietary changes. Loss of these nerve cells causes symptoms such as behavior changes, unusual, snake-like movements choreauncontrolled movement, difficulty walking, loss of memory, speech and cognitive functions and difficulty in swallowing.
Treatment aims to limit the course of the disease.
There is also an early-onset form which begins in childhood. The most common are [ 11 ]: In Duchenne muscular dystrophy, the symptoms usually are apparent before the age of 6 and may appear even earlier. Fatigue, possible mental retardation and muscle weakness, beginning in the legs and then to the upper body.A mutation in a person's genes can cause a medical condition called a genetic disorder.
Learn about the types and how they are detected. Jewish Genetic Disorders are a group of conditions which are unusually common among Ashkenazi Jews (those who have ancestors from Eastern and Central Europe).
These same diseases can affect Sephardi Jews and non-Jews, but they afflict Ashkenazi Jews more often - as .
Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure.
READ Personalised Medicine: Genetic Screening For Cancer Patients. Thalassemias The thalassemias (beta-thalassemia is the most common, alpha-thalassemia is less common) is a group of inherited blood disorders where hemoglobin, the oxygen-carrying molecule, is . Same genetic region is associated with incidence of renal cell carcinoma. (1) Hemangioblastomas of cerebellum, medulla, or retina, (2) adenomas, (3) cysts in visceral organs. High risk . The primary NIH organization for research on Genetic Disorders is the Eunice Kennedy Shriver National Institute of Child Health and Human Development Disclaimers MedlinePlus links to health information from the National Institutes of Health and other federal government agencies.
For many single-gene disorders, the genetic basis is well understood, and the disease-causing gene variants can be identified with genetic testing. People are tested for two main reasons: to find out if they have a particular genetic disorder, or to find out if they are a carrier.
Identifying genetic disorders at the earliest possible stage is a fundamental part of what we do. Depending on your family history, screening can take place in adults before becoming pregnant, during pregnancy, and in children after birth.
Many health conditions run in families. Doctors call these “genetic” or “hereditary” conditions. If you have a parent or grandparent with a serious health problem, you may want to know if.