overview
Angelman syndrome is a genetic disorder. It has delayed development, speech and balance disorders, intellectual disabilities, and sometimes seizures.Angelman syndrome Treatment Hyderabad
- People with Angelman Syndrome often smile and laugh and have happy and exciting personalities.
- Developmental delays that begin between the ages of 6 and 12 months are usually the first signs of Angelman syndrome. Seizures can begin between 2 and 3 years of age.
- People with Angelman syndrome tend to live near a normal life span, but the disorder cannot be cured. Treatment focuses on managing medical, sleep, and development issues.Angelman syndrome Treatment Hyderabad
symptom
The signs and symptoms of Angelman Syndrome include:
- Developmental delays, including no exploration or chatter, between 6 and 12 months
- Limited intellect
- No language or minimal language
- Difficulty walking, moving, or balancing
- Frequent smiles and laughter
- Happy and exciting personality
- Difficulty falling asleep and falling asleep
The reasons
Angelman syndrome is a genetic disorder. It is usually caused by problems with a gene on chromosome 15 called the ubiquitin protein ligase E3A gene (UBE3A).
- A missing or defective gene.
You get your gene pairs from your parents – one copy from your mother (maternal copy) and one from your father (paternal copy). - Your cells usually use information from both copies, but only one copy is active in a small number of genes.
- Usually only the maternal copy of the UBE3A gene is active in the brain. Most Angelman syndrome cases occur when part of the maternal copy is missing or damaged.
- In some cases, Angelman syndrome is caused when two paternal copies of the gene are inherited from each parent instead of one.Angelman syndrome Treatment Hyderabad
Risk factors
Angelman syndrome is rare. Researchers generally aren’t sure what’s causing the genetic changes that lead to Angelman syndrome. Most people with Angelman syndrome do not have a family history of the disease.
- Sometimes Angelman syndrome can be inherited from one parent. A family history of the disease may increase a baby’s risk of developing Angelman syndrome.
prevention
In rare cases, Angelman syndrome can be passed from an affected parent to a child through defective genes. If you are concerned about a family history of Angelman syndrome or already have a child with the disorder, you should speak to your doctor or genetic counselor to help plan future pregnancies.Angelman syndrome Treatment Hyderabad