What is Smith-Magenis?
Smith-Magenis syndrome is an unusual genetic disorder that can cause a number of different physical defects and mental health problems. The condition is the result of a random deletion of a particular gene for Chromosome 17 during the early fetal development. People with Smith-Magenis syndrome are usually shorter than the diameter and have a wide, distinctive facial features. Most suffering also have a certain level of mental retardation and is susceptible to aggressive behavior problems. With devoted treatment and support, many patients are able to function somewhat independently in society and achieve normal life expectancy.
The decade of genetic research has determined the cause of Smith-Magenis syndrome. The gene coding proteins called RAI1 is partially or completely absent on the chromosome of 17 affected individuals. Although the exact function of RAI1 is not fully understood, it is clear that it contributes to both physical and mental development. The condition is rarely inherited; New cases tend to be spontaneously without any family history of Smith-Magenis syndrome or other SOUvisiting genetic disorders.
Infants who were born with Smith-Magenis syndrome may not immediately show symptoms. In most cases, the diagnosis is not made until early childhood. Most children with disorder have characteristic facial features such as wide faces, distinctive lower jaw, protruding upper lip and flat nose. In addition, they can be shorter than their peers, have a bad muscle tone and show early signs of scoliosis. Most children have developmental problems that disrupt their ability to learn, read and get along with others.
sleep problems are also common with Smith-Magenis syndrome. Children and adults often have trouble falling asleep at night and fall asleep until morning and can be too tired and lethargic during the day. Behavior explosions such as throwing lively seizures of anger, beating yourself or others, and shouting is also common. Suffering also tend to lose interest quicklyabout activities and become highly impatient.
Modern advancement in genetic testing allows specialists to identify missing RAI1 genes in blood samples. However, some cases are incorrectly diagnosed, which may lead to delayed or incorrect treatment. In general, it is important to obtain more than one professional opinion of doctors whenever the child seems to show symptoms of Smith-Magenis syndrome.
There is no cure for disorder, but it is possible to take steps to improve the symptoms and quality of the patient's life. Drugs are often prescribed to improve concentration, span of attention and sleep. Spine surgery may be necessary if scoliosis causes pain and limited range of movement. In addition to medical care, many young patients require continuous support of the family with food, bathing, dressing and using the bathroom. Putting physical therapy and speech training can help patients to gain independence and trust.