The nervous system is one of the important systems in human life. Without the support of normal nerves, a person becomes disturbed in its development. This nerve function disorder can occur either because of an illness during adulthood or from the womb. Now, there is an inherited disease that makes the human nervous system disrupted from birth, called Angelman syndrome.
The increasing number of babies born with congenital abnormalities makes many researchers compete to uncover the origin of this syndrome. What happens to babies and people with this fairly rare syndrome? Is there a cure for it? Find out more below.
Definition and causes of Angelman syndrome
Syndrome has a meaningful set of symptoms. Angelman syndrome is a disease that attacks the human nervous system, causing symptoms in patients. This results in inhibition of the process of growth and psychomotor maturation, especially in intellectual matters.
This disease is estimated to occur in 1 in about 12,000-20,000 live births. That's why this syndrome is actually rarely found.
The cause of Angelman's syndrome is a gene mutation that occurs before the baby is born. This gene mutation causes abnormalities on chromosome 15. This disorder then causes interference with the baby's nervous system.
Symptoms and signs of Angelman syndrome
People with this syndrome have various symptoms and signs that can be seen both during infancy and when children grow. Here are the symptoms of Angelman syndrome.
Ataxia
Ataxia is an abnormality in the form of lack of coordination between the members of the body. People with Angelman syndrome will find it difficult to perform movements that require coordination of several parts of the body such as taking things, holding objects, walking, even chewing and swallowing food.
Tremor and anxiety
As a result of disruption of the development of body muscles, tremor can be found in people with this syndrome. In addition, several studies say that sufferers tend to be restless and hyperactive.
Scoliosis
Most sufferers also have a curved side spine called scoliosis. One sign that is visible is the striking difference between the right and left shoulder.
Cockeye
In the medical world, squint eyes are also known as strabismus. This phenomenon occurs because there are muscles around the eyes that are weakened so that the position of the eyeball becomes misaligned.
Growth and development disorders
Although it can live to adulthood, growth and development disorders occur in children with this syndrome because there are developmental obstacles in the child's nervous system. Not infrequently seizures occur when the patient is still a few months old.
Member stiff motion
Most babies suffer from stiffness in all four limbs due to excess muscle strength in the area.
How do doctors diagnose Angelman syndrome?
This disease can be diagnosed both when the baby is still in the womb (prenatal) and after birth (postnatal).
Prenatal diagnosis
Detection of Angelman syndrome when the baby is still in the womb can be done by analyzing the amniotic fluid of pregnant women, followed by chromosomal examination so that certain genetic abnormalities can be identified. If chromosome 15 is found, your child is suspected of having this syndrome.
Postnatal diagnosis
In addition to observing physical abnormalities and tracing the history of child development that leads to this disease, a definite diagnosis can be made using chromosomal analysis that shows abnormalities on chromosome 15.
Is there a cure for Angelman syndrome?
Until now, the medical world has not found a therapy that can cure Angelman's syndrome completely. This is difficult because the disease is caused by genetic factors so that various kinds of abnormalities have been formed since the womb.
So far, more treatment is aimed at rehabilitation with the aim of optimizing children's development and behavior. In addition, doctors will recommend some corrections to physical abnormalities that arise, such as strabismus and scoliosis.
What about the patient's life expectancy?
Although there is no cure, the average person with Angelman syndrome can live to old age. However, sufferers must remain in the supervision and support of others in order to be able to perform optimally.