Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head plus also a certain facial appearance, acute intellectual disability, developmental disability, speech issues, balance and motion difficulties, seizures, and sleep difficulties. Kids are often happy in character and have a specific interest in water. The symptoms normally become evident by one year old.
Angelman syndrome is generally because of brand new mutation as opposed to 1 inherited by an individual’s parents.Angelman is a result of a deficiency of function of a part of chromosome 15 inherited from an individual’s mother. Sometimes, it’s because of inheriting two copies of chromosome 15 by an individual’s father and not one from their own mother. Since the dad’s variations are modulated by a procedure called genomic imprinting, no practical variant of the gene remains.Diagnosis relies on symptoms and potentially genetic testing.
No cure is available. Treatment is normally supportive in character. Anti-seizure medicines are used in people with seizures. Physical treatment and bracing can assist with walking. https://simplealternatives.com/ Those affected have a practically normal life expectancy.
Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures.
People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.
Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures often begin between the ages of 2 and 3 years old.
Angelman syndrome signs and symptoms include:
- Difficulty walking, moving or balancing well (ataxia)
- Frequent smiling and laughter
- Happy, excitable personality
- Developmental delays, including no crawling or babbling at 6 to 12 months
- Intellectual disability
- No speech or minimal speech
People who have Angelman may also have other signs and symptoms, including:
- Tongue thrusting
- Hair, skin and eyes that are light in color (hypopigmentation)
- Unusual behaviors, such as hand flapping and arms uplifted while walking
- Seizures, usually beginning between 2 and 3 years of age
- Stiff or jerky movements
- Small head size, with flatness in the back of the head (microbrachycephaly)
Causes of angelman syndrome
Angelman syndrome is a hereditary illness. It is usually caused by issues with a gene located on chromosome 15 known as the ubiquitin protein ligase E3A (UBE3A) gene.
Prevention of angelman syndrome
In rare situations, Angelman might be passed from an affected parent to the child via genes that are faulty. If you are worried about a family history of Angelman syndrome or in the event that you currently have a child with Angelman , then consider speaking to your doctor or a genetic counselor for assistance planning future pregnancies.
