Common Hereditary diseases in Humans-An overview on the Facts

Hereditary diseases are also known as genetic disorders that are caused by the abnormalities of DNA which is inherited from the parents to their child. Where as in many cases not all of the gene defect causes disease. There are many of the diseases that are discovered every month, there are almost 1100 genetic disease are discovered.

Genetic defects cause diseases in a variation of ways. The simplest way is through a mutation that is loss of functions, in this mutation the DNA nucleotides prevents the gene when they are making protein, or prevents the protein from functioning in a proper way formerly it is made. The second way is the mutation with toxic gain of functions, in this type of mutation the gene takes a new function that is harmful for an organism. There are many different complex ways in which the genetic defects cause disease.

Common Hereditary diseases

A genetic disease is an illness that can be very difficult to avoid or sometimes even impossible. For parents this can mean giving birth to someone who will never be ‘well’ in the traditional senses and no amount of exercise or healthy living can change that problem. Some of the common inherited diseases are;

Huntington’s disease

Huntington’sHuntington’s disease is caused by an inherited defected gene that causes certain nerve cells of the brain to havoc away. Huntington’s disease takes away the capability to walk, talk, and swallow. Initial physiognomy may include personality changes, mood swings, restless movements, irritability and altered behaviors, although these are generally overlooked and associated with something else. If the parents have this disease there are 50% chances of developing Huntington’s disease in the child. A blood test is done which can help to find whether the patient have the Huntington’s disease gene and will flourish the disease. Genetic counseling can help to counterbalance the risks and benefits of taking the test. There is no complete cure for the disease but the symptoms can overcome with the complete guidance of a health provider.

Cystic Fibrosis

Cystic FibrosisCystic fibrosis is an inherited disease that is symbolized by the escalation of thick, sticky mucus that can harm many of the other organs of the body. The most common signs and symptoms of cystic fibrosis encompass continuous damage to the respiratory system and chronic digestive system problems. The feature of the disorder and their severity diverge among affected individuals. Cystic fibrosis is investigated through various types of tests, such as gene, sweat tests, and blood. There is no proper cure for thus disease, but treatments have improved the signs and symptoms greatly in recent years. In the past, most deaths from Cystic fibrosis were common in children and many teenagers.  Some of the people have severe problems from the birth. Others have a mild interpretation of the disease that doesn’t show up as far as they are teens or young adults. Treatments for cystic fibrosis may include chest physical therapy, nutritional and respiratory therapies, medications, and proper exercise.

Neurofibromatosis

NeurofibromatosisNeurofibromatosis is an inherited nervous system disorder that is involved in causing tumors to form on nerves. Neurofibromatosis is one of the most common genetic disorders in America, affecting one of every 3,000 to 4,000 births. About one-half of neurofibromatosis cases are inherited and the other half result from impulsive genetic mutation. The tumors crop up from changes occurring in the nerve cells and skin cells. Tumors also assort on the body’s vital areas as their size increases. Neurofibromatosis may lead to developmental abnormalities and raised chances of having learning disabilities and difficulties. Other forms of Neurofibromatosis where the symptoms are not persistent with that of NF1 or NF2 have been observed. An unusual form of Neurofibromatosis is schwannomatosis. However, the genetic origination of this form of Neurofibromatosis has not been found yet.

Down’s syndrome

Down’s-syndromeDown syndrome is a common inherited chromosomal abnormality that affects approximately 1 in 1000 newborns that result an extra copy of genes occurs on chromosome 21. Although Downs can be detected by pre-natal testing, babies that are affected typically show the following features at birth—decreased muscle tone in the face, developmental delays, and heart and digestive system defects. A few of the common physical characters of Down syndrome are low muscle tone, small stature, an upward leaning to the eyes, and a single deep wrinkle across the center of the palm despite each person with Down syndrome is a unique individual and may possess these characteristics to different severities, or sometimes not at all.

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