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Showing posts from April, 2018

Recognize Duchenne Muscular Dystrophy Better

Duchenne muscular dystrophy (DMD) is a progressive, progressive, and hereditary muscular dystrophy about boys. The incidence of the disease is relatively rare, only amounted to one of 3500 male births. The disease is passed down through X-linked recessive, and only about men, while women are just as career. In the DMD there is a genetic disorder that lies on the X chromosome, locus Xp21.22-4 which is responsible for the formation of the dystrophin protein. Pathologic changes in dystrophic muscles occur primarily and are not caused by secondary disease due to central nervous system or peripheral nervous disorders. Distrofin is a very long protein with a molecular weight of 427 kDa2.4, and consists of 3685 acids amino.2 The main cause of degenerative processes in most DMDs due to deletions on the segment of the gene in charge answer to the formation of dystrophin proteins in the membrane muscle cells, resulting in the absence of such proteins in muscle tissue. 2 Erb2.5 in 1884 for

The Noonan Syndrome Characteristics You Must Know

Noonan Syndrome is a genetic disorder that impedes normal development in various parts of the body. A child can be stricken with Noonan syndrome in a variety of ways: unusual facial characteristics, short stature heart defect, other physical problems, and sometimes mental retardation. Noonan syndrome is caused by a genetic mutation and are obtained when a child inherits a copy of the affected genes from the parents. It can also occur as a spontaneous mutation in children, which means there is no family history involved. The characteristics of children with Noonan Syndrome, among others: 1. Characteristics of the face -Early childhood. An infant with age less than 1 month seems lowly ears, short neck and at the back of the head low hairline -Childhood. Children have eyes stand out with the slope down and the nose is wide and round. Often seen the lack of facial expression. -Teens. At adolescence, her face is wide, usually the facial features become sharper and less promine

Recognize Huntington's Disease and How to Care for the Patient

Huntington's disease is a disease that attacks the nerve cells of the derivative on the brain. Damage to this brain worsen over time and can affect the movement of the body, the brain's cognitive functions (perception, consciousness, thinking, judgment), and the behavior of its victims. Huntington's disease was originally called Huntington's chorea (chorea "Greece means dancing). This is because patients often do uncontrolled movements that look like dance that tugs. The name of the disease is derived from the name of a health expert, namely George Huntington who is an inventor and explain about the disease for the first time in 1872. Huntington disease genes are dominant, so the kids of parents who suffered from Huntington's disease has a tendency to have the same disease. The Symptoms Of Huntington's Disease Huntington's disease usually causes disorders psychiatric, cognitive and motion with a wide spectrum. The first symptoms appear varies

Find Out About Tourette Syndrome More Clearly

Tourette's syndrome is a neuropsychiatric disorder in which the patient performs a series of repetitive, unintentional, out-of-control, and sudden movements. These behaviors are called tic. Tourette's syndrome usually begins at age 2-15 years and is more common in boys than in girls. A child can experience tic at a certain age and is generally not very visible. Tic occurs in a disappearance and usually disappears within a year. In patients with Tourette syndrome, there are various types of tic for several times a day and last for more than one year. The initial symptoms of Tourette's syndrome are spontaneous or short-term seizures, sudden jerks, twitching noses, or even moving mouths. The symptoms of tics between one person and another can be different. Others have to bend or twist their bodies many times as their "character" tics. These early symptoms are usually seen first in childhood, with an average first appearance between the ages of 3 and 9 years.