Genetic Disease List

Mutation, deletion, aberrations, unusual extension of genes causes genetic diseases. As medical scientists still do not know of ways to stop genetic disorders prior to birth, many children are born with genetic disorders.

Angelman Syndrome is one of rare genetic diseases. In 1965 Dr. Angelman first described the details of this neuro-genetic disorder, in which growth delaying, difficulty in speaking, sleeping disorders and mood swings are common symptoms.

Canavan disease genetically destructs the brain cells. It belongs to the genetic disease category called leukodystrophies. Its main characteristic is the degeneration of myelin, which is the protecting layer of nerve fibers of the body.

Celiac disease affects the autoimmune system damaging the small bowel. From infancy to any age group, this disease can be harmful. The main symptoms are fatigue and diarrhoea. Those who suffer from Celiac disease have difficulties in nutrient absorption abilities. An effective treatment for Celiac disease is a gluten-free diet.

Charcot-Marie-Tooth disease is a heterogeneous genetic disorder of nerves which is defined by touch sensation and loss of muscle tissue, especially in the legs and feet, but in the arms and hands as well in the advanced phases of disease.

Color blindness, or deficiency to perceive colors can be of a genetic nature, but can as well appear because of brain, eye, or nerve damage, or because of contact with some chemicals products. In 1798, the English chemist John Dalton studied this aspect for the first time. It is sometimes called daltonism after him.

Cri du Chat syndrome is a rare genetic disorder which affects approximately 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women.

The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of infants recover by the age of 2. Negative aspects of this disease may be:

1. Feeding problems because they can't suck and swallow well

2. Low weight at birth and poor evolution,

3. Motor, cognitive, and speech delays,

4. Behavioral problems such as aggression, hyperactivity, and repetitive movements,

5. Uncommon facial traits that can change in time.

Cystic fibrosis is an inherited disorder which can affect the entire body, leading to gradual disability and death.

The most common symptoms are difficulty breathing and not enough enzyme production in the pancreas. Low immune system and dense mucous production lead to frequent lung infections that are treated, but not always cured, sometimes by intravenous and oral antibiotics. Many other symptoms, like sinus infections, poor evolution, and diarrhea can be effects of this disorder. Sometimes, recurrent lung infections during infancy or childhood may be a sign of cystic fibrosis.

Down syndrome is a hereditary disorder which features problems related to cognitive ability, physical evolution, and facial traits. It is called after John Langdon Down, the doctor who described it in 1866, in Britain.

Duchenne muscular dystrophy is a mortal disorder which is defined by rapidly gradual muscle weakness and damaged muscular tissue beginning in the pelvis and legs and then affecting the entire system.

Hemophilia is the name of some genetic disorders which mean the body's inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).

Klinefelter syndrome has in main effect abnormal testicular evolution and decreased fertility.

Neurofibromatosis includes a more different genetic disorder which makes tumors develop along different nerves, besides, may influence the evolution of tissues which are not nervous, like skin and bones. The tumors may develop anywhere in or on the body.

The list may continue with other genetic disorders like: Phenylketonuria, Prader-Willi syndrome, Sickle-cell disease, Spina bifida, Tay-Sachs disease or Turner syndrome.

Unfortunately the list does not finish here and researchers in the domain of medicine must work a lot harder in order to discover remedies for them.

Discuss It!

Ludwig Weber said:

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