What is Angelman syndrome?
What is Angelman syndrome? - Angelman syndrome is a genetic disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, difficulty walking, and in some cases, seizures.
Smiling and laughing spontaneously common in people with Angelman syndrome. They seemed always happy and has a vibrant personality.
Angelman syndrome is usually not detected until the baby has a developmental delay at the age of approximately 6 to 12 months.
Seizures usually begin to occur when the child is between the ages of 2 to 3 years.
Angelman syndrome treatment will include medical treatment and therapy to deal with developmental delays.
Symptom
Signs and symptoms of Angelman syndrome include:
Developmental delay, such as can not crawl or babble at the age of 6 to 12 months
Late or not being able to speak like a baby in general
Inability to walk or poor body balance
Arms and legs are often shaky
Often smiling and laughing
Always seem happy and excited
People who have Angelman syndrome may also experience the signs and symptoms, including:
Seizures, usually begins between the ages of 2 to 3 years
Rigid body movements such as twitching or
Small head size, with the back of the head was flat (microbrachycephaly)
Uncoordinated eye movements (strabismus)
Often tongue
Walking with his hands up in the air
Lack of pigmentation in the hair, skin, and eyes (hypopigmentation)
Cause
Angelman syndrome is a genetic disorder. This condition is often caused by problems with genes located on chromosome 15 of a gene called ubiquitin-protein ligase E3A (UBE3A).
For information, each child will receive a pair of genes from each parent (father and mother).
Both genes from each parent are usually active. This means that the body's cells to use information from both genes from mom and dad.
But in a small number of cases, only one copy of a gene is active.
In the majority of cases of Angelman syndrome, part of the chromosome that contains the maternal UBE3A gene is inactive or damaged.
In a small number of cases, Angelman syndrome occurs when two copies of the gene are inherited father, instead of one from the father and one from the mother.
Risk Factors
Angelman syndrome is a rare condition. In most cases, researchers have not been able to identify what triggers genetic changes that result in Angelman syndrome.
Most people with Angelman syndrome do not have a family history of this disease.
In a minority of cases, Angelman syndrome can be inherited from the parents, so that family history increases the risk of babies developing Angelman syndrome
Smiling and laughing spontaneously common in people with Angelman syndrome. They seemed always happy and has a vibrant personality.
Angelman syndrome is usually not detected until the baby has a developmental delay at the age of approximately 6 to 12 months.
Seizures usually begin to occur when the child is between the ages of 2 to 3 years.
Angelman syndrome treatment will include medical treatment and therapy to deal with developmental delays.
Symptom
Signs and symptoms of Angelman syndrome include:
Developmental delay, such as can not crawl or babble at the age of 6 to 12 months
Late or not being able to speak like a baby in general
Inability to walk or poor body balance
Arms and legs are often shaky
Often smiling and laughing
Always seem happy and excited
People who have Angelman syndrome may also experience the signs and symptoms, including:
Seizures, usually begins between the ages of 2 to 3 years
Rigid body movements such as twitching or
Small head size, with the back of the head was flat (microbrachycephaly)
Uncoordinated eye movements (strabismus)
Often tongue
Walking with his hands up in the air
Lack of pigmentation in the hair, skin, and eyes (hypopigmentation)
Cause
Angelman syndrome is a genetic disorder. This condition is often caused by problems with genes located on chromosome 15 of a gene called ubiquitin-protein ligase E3A (UBE3A).
For information, each child will receive a pair of genes from each parent (father and mother).
Both genes from each parent are usually active. This means that the body's cells to use information from both genes from mom and dad.
But in a small number of cases, only one copy of a gene is active.
In the majority of cases of Angelman syndrome, part of the chromosome that contains the maternal UBE3A gene is inactive or damaged.
In a small number of cases, Angelman syndrome occurs when two copies of the gene are inherited father, instead of one from the father and one from the mother.
Risk Factors
Angelman syndrome is a rare condition. In most cases, researchers have not been able to identify what triggers genetic changes that result in Angelman syndrome.
Most people with Angelman syndrome do not have a family history of this disease.
In a minority of cases, Angelman syndrome can be inherited from the parents, so that family history increases the risk of babies developing Angelman syndrome
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