Contents:
- Definition and causes of Angelman syndrome
- Symptoms and signs of Angelman syndrome
- Ataxia
- Tremor and restlessness
- Scoliosis
- Cockeye
- Disorders of growth and development
- Rigid limbs
- How do doctors diagnose Angelman syndrome?
- Prenatal diagnosis
- Postnatal diagnosis
- Is there a cure for Angelman syndrome?
- What about the patient's life expectancy?
The nervous system is one of the important systems in human life. Without normal nerve support, a person becomes disturbed in his development. This nerve function abnormality can occur either because of an illness during adulthood or from the womb. Well, there is a congenital disease that has disturbed the human nervous system since birth, called Angelman syndrome.
Increasing the birth rate of infants with congenital abnormalities makes many researchers vying to uncover the origins of this syndrome. What happens to babies and people with this fairly rare syndrome? Is there a medicine to cure it? Find out further below.
Definition and causes of Angelman syndrome
The syndrome means a collection of symptoms. Angelman syndrome is a disease that attacks the human nervous system so that some symptoms arise in patients. This results in the inhibition of the growth process and the psychomotor maturation of a person, 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 syndrome is a gene mutation that occurs before the baby is born. This gene mutation causes abnormalities on chromosome 15. This disorder then causes a disturbance in 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 the child grows. Here are the symptoms of Angelman syndrome.
Ataxia
Ataxia is a disorder in the form of lack of coordination between members of the body. People with Angelman syndrome will find it difficult to carry out movements that require coordination of several body parts such as taking something, holding objects, walking, and even chewing and swallowing food.
Tremor and restlessness
Due to the disruption of the development of body muscles, tremors can occur in people with this syndrome. In addition, several studies say that sufferers tend to be nervous and hyperactive.
Scoliosis
Most sufferers also have the shape of a curved spine to the side called scoliosis. One sign that is visible is the difference in striking right and left shoulder height.
Cockeye
In the medical world, squint eyes are also known as strabismus. This phenomenon occurs because there are muscles around the eyes that weaken so that the position of the eyeball becomes uneven.
Disorders of growth and development
Although it can live to adulthood, there is a disruption of growth in children with this syndrome because there are developmental barriers to the child's nervous system. Not infrequently seizures occur when the patient is still a few months old.
Rigid limbs
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 a baby is still in the womb can be done by analyzing the amniotic fluid of pregnant women, followed by chromosome examination so that certain genetic disorders can be identified. If chromosome 15 abnormalities are 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 chromosome 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 syndrome completely. This is difficult because this disease is caused by genetic factors so that various types of abnormalities have been formed from the womb.
So far, the treatment is aimed more at rehabilitation with the aim of optimizing children's development and behavior. In addition, doctors will recommend several corrections to physical disorders 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 under the supervision and support of others so that they can carry out their activities optimally.
