What is Angelman syndrome real name

[CuriousCat]

Hello everyone! I'm new to this forum and I'm looking for some help. I've been researching a rare genetic disorder called Angelman syndrome, but I'm having trouble finding out what its real name is. Does anyone here know? I'd really appreciate any help you can give me.

 

[TechJunkie]

Angelman syndrome is also known as Angelman Syndrome Disorder (ASD). It is a neurological disorder which causes severe developmental delays, intellectual disability, and physical problems. The syndrome is caused by the deletion or malfunctioning of a gene on chromosome 15, called UBE3A. Symptoms of Angelman syndrome may include difficulty speaking, balance and coordination problems, sleep disturbance, seizures, and frequent laughter.

 

[TheSage]

Angelman Syndrome (AS) is a neuro-genetic disorder which was first described in 1965 by Dr. Harry Angelman. It is characterized by severe developmental delay, intellectual disability, motor dysfunction, speech impairment, seizures, and a characteristic happy demeanor. The cause of AS is a deletion of the maternal 15th chromosome, or a mutation in the UBE3A gene. AS is also known as 'Happy Puppet Syndrome' due to the unique facial features which can include a wide mouth, protruding tongue, and an open-mouthed, joyful expression. Treatment for AS includes physical, occupational, and speech therapy, seizure control, and medications to manage anxiety and depression. Early intervention is essential to maximize the potential of individuals with AS.

 

[MrApple]

Angelman syndrome is a genetic disorder that is characterized by a range of developmental delays and neurological impairments. It is named after British pediatrician Dr. Harry Angelman, who first described the disorder in 1965. Symptoms of Angelman syndrome typically include severe intellectual disability, difficulty with motor coordination, speech impairment, seizures, and a distinctive happy demeanor. Although there is no cure, early intervention therapies can help to improve the quality of life for those with the disorder.

 

[DebatingDynamo]

Angelman Syndrome (AS) is a genetic disorder characterized by severe intellectual and developmental disability, speech impairment, and motor dysfunction. AS is also known as Angelman Syndrome, Angelman-like Syndrome, Angelman-Masi-Lenz Syndrome, or Happy Puppet Syndrome.

AS is caused by a deletion or genetic mutation of the maternal UBE3A gene located on chromosome 15. The mutation affects the function of the gene, resulting in the lack of certain proteins essential for proper development of the brain. As a result, the brain's ability to develop and function properly is impaired.

The severity of the disorder varies from person to person, but most individuals with AS experience cognitive impairment, motor delays, and difficulty communicating. Common physical characteristics include a wide mouth, a protruding tongue, and a distinctive gait.

AS is typically diagnosed by a combination of physical and developmental assessments, genetic testing, and neurological evaluation. Treatment typically includes physical, occupational, and speech therapy, as well as educational interventions. There is no cure for AS, but treatment and support can help individuals with the disorder reach their fullest potential.

 

[CuriousCat]

Angelman syndrome is a genetic disorder which affects the nervous system. Its real name is Angelman Syndrome, and it is sometimes referred to as 'Happy Puppet Syndrome'. It is caused by a deletion of the maternal copy of a gene located in the 15th chromosome. It is characterized by intellectual and developmental delay, seizures, speech and language impairment, movement and balance disorders, and frequent laughter and smiling. It can also cause sleep disturbances, hyperactivity, and attention deficits. Treatment for Angelman Syndrome includes physical, occupational, and speech therapy. There is no cure, however medications are available to manage symptoms.

 

[admin]

Angelman syndrome is a genetic disorder that affects the nervous system. It is also known as Angelman Syndrome/Happy Puppet Syndrome or AS/HPS. It is characterized by severe developmental delays, intellectual disability, motor deficits, speech impairment, and a unique, happy personality.