Showing posts with label Inherited Genetic Disorders. Show all posts
Showing posts with label Inherited Genetic Disorders. Show all posts

Tuesday, June 24, 2014

Inherited Genetic Diseases

Inherited Genetic Diseases
It is important to have an insight into, and some knowledge about inherited genetic diseases, especially if one is planning to have a baby. Having sufficient knowledge can be of help in preventing the baby from acquiring such a disease.



Most birth related defects are usually inherited genetic diseases. This is normally a condition which leads to abnormalities in the structure and function of the baby right from birth. Often, these types of defects are genetic in nature, and are passed to the baby from the parents. However, some isolated cases may not be hereditary, and could be due to environmental hazards or external effects, exposed to the mother at pregnancy.



There are thousands of known inherited genetic diseases. Genetic diseases are varied in intensity and types. These may include physical conditions or defects, or delays in normal development of the child. Some inherited genetic diseases may be deadly. Sadly, all inherited genetic diseases cause a lot of physical and emotional pain both to the patient and to the parents.



Inherited genetic diseases can be passed down through various ways. They can be transmitted from the father, the mother or even both parents. In case where both parents have defaults in their genes, the defects are often inherited by the baby. On the other hand, where only one parent has a genetic defect, it is also possible for the defect to be passed on to the child. The other case is where the mother specifically passes on a genetic condition to the male offspring. This is a defect that affects only the X-chromosome. The baby is likely to have an inherited genetic disease if the X-chromosome of the mother is faulty.



Among the several common inherited genetic diseases include muscular diseases, usually inherited from the mother, and central nervous system defects - which may cause blindness, dementia and seizures. This is a dangerous and possibly fatal inherited genetic condition, especially if both parents have it. The other common condition is sickle cell anaemia, which is a disorder of the red blood cells. It can cause pain, fatigue and other health complications. The likelihood of the child inheriting this condition is higher if both parents carry the gene.



A basic precaution for parents to safeguard their unborn babies from acquiring inherited genetic diseases would be to maintain a healthy lifestyle and diet, especially for the mother throughout her pregnancy.






Monday, June 23, 2014

Genetically Inherited Diseases

Genetically Inherited Diseases
It was difficult to diagnose genetically inherited diseases, but with the advance in technology, there have been breakthroughs that have enabled persons predisposed to genetic diseases to get diagnoses early, before the birth of a child. This way, they will know the chances of the disease being inherited by the unborn child. However, this technology is yet to permeate and reach potential sufferers and so genetically inherited diseases are a reality of the 21st century. Genetically inherited diseases rages form ALS or Lou Gehrig's syndrome to Huntington's disease.



Diagnosis of these diseases was usually done after the effects on the life of the sufferer have become irreversible and the person has been taken to a mental institution. A neurologist will assess the mental functions and the family diseases of the person to make a clear cut diagnosis. A CT scan is performed on the person and genetic tests to analyze the DNA of the person and the likelihood of the genetic disease. For a person displaying obvious symptoms, the genetic tests need not be done, although they are dome as a medical procedure to confirm the disease.



Testing for genetically inherited diseases is done at three stages; at the prenatal stage before the birth of a child, at the developmental stages of a child and after the development of the symptoms of a genetically inherited disease. The prenatal stage is the best stage in the opinion of many medical practitioners. This is not done on just any expectant mother, but on those mothers with the genetic predisposition to the disease. At the developmental stages of a child in a family with a history of any genetically inherited disease, the child may be tested for the disease so as to be wary of the symptoms and to know the chances of developing the disease late in life. Although there is nothing that can be done to prevent the disease even with early diagnosis, the family will be well prepared psychologically to handle the disease in the event that the child is infected. The testing after the symptoms is mainly confirmation of suspicion of the genetically inherited disease.



Genetically inherited diseases involve the passing of a gene that is faulty from one generation to the other. In some genetically inherited diseases, the faulty gene is dominant and is recessive in some. A recessive gene rarely has any harm but a dominant gene manifests itself in the life of the person later in life.