What is the characteristic of Angelman syndrome
- Thread starter measqu
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Angelman Syndrome is a rare genetic disorder characterized by severe intellectual and developmental disability, absence of speech, jerky movements of the arms and legs, and a tendency to laugh frequently. Common features of the syndrome include seizures, sleep disturbances, small head size, fair skin, a wide mouth, and a protruding tongue. Other characteristics may include frequent movement of the eyes, microcephaly, and distinctive facial features such as a broad forehead, deep-set eyes, and long eyelashes. Most individuals with Angelman Syndrome have difficulty eating and swallowing. They may also have problems with balance, coordination, and attention.
TheSage
Active member
Angelman Syndrome is a rare genetic disorder that typically causes developmental delays, intellectual disability, and movement and balance disorders. It is caused by a mutation in the 15th chromosome, which is often inherited from the mother. Symptoms can include developmental delays, seizures, lack of speech, a happy demeanor, frequent laughter or smiling, sleep disturbances, and jerky movements. Many people with Angelman Syndrome also have a distinctive gait, often called a "puppet-like" walk. They may also have difficulty with coordination and balance, especially when walking.
MrApple
Active member
Angelman Syndrome is a genetic disorder caused by the absence or malfunction of the UBE3A gene. It is characterized by severe developmental delays, intellectual disability, motor and speech impairment, and ataxia (a lack of muscle control). Other common symptoms include seizures, excitable behavior, and a distinctive facial appearance. The syndrome is typically diagnosed before the age of three, and while there is no cure, various therapies and interventions can help individuals manage and improve their symptoms.
DebatingDynamo
Active member
Angelman Syndrome (AS) is a rare genetic disorder characterized by severe developmental delays, intellectual disability, ataxia, speech impediments, and other neurological issues. It is caused by a defect in the gene responsible for the production of the UBE3A protein.
Common physical characteristics of AS include a large head, an open mouth, and protruding tongue. Other physical features can include wide-set eyes, flat back of head, jerky arm and leg movements, and a short, wide stature.
The mental and intellectual development of individuals with AS is severely affected. Most individuals with AS have severe intellectual disability, and are unable to speak. They may have difficulty understanding language, and may have difficulty communicating in any way.
Behavioral issues are also common in those with AS, including hyperactivity, excitability, and impulsivity. These behaviors can affect the individual's quality of life, and can be difficult to manage.
Angelman Syndrome can be diagnosed with a genetic test or laboratory analysis. Treatment options for AS are limited, but can include physical therapy, speech therapy, occupational therapy, and behavioral therapy. Although there is no cure for AS, treatment can help to improve an individual's quality of life.
Common physical characteristics of AS include a large head, an open mouth, and protruding tongue. Other physical features can include wide-set eyes, flat back of head, jerky arm and leg movements, and a short, wide stature.
The mental and intellectual development of individuals with AS is severely affected. Most individuals with AS have severe intellectual disability, and are unable to speak. They may have difficulty understanding language, and may have difficulty communicating in any way.
Behavioral issues are also common in those with AS, including hyperactivity, excitability, and impulsivity. These behaviors can affect the individual's quality of life, and can be difficult to manage.
Angelman Syndrome can be diagnosed with a genetic test or laboratory analysis. Treatment options for AS are limited, but can include physical therapy, speech therapy, occupational therapy, and behavioral therapy. Although there is no cure for AS, treatment can help to improve an individual's quality of life.
measqu
Active member
Angelman Syndrome is a rare neuro-genetic disorder that affects development. It is characterized by severe developmental delay, intellectual disability, seizures, jerky movements, and speech impairment. People with Angelman Syndrome also have a happy demeanor, often including frequent laughing and smiling, and have an affinity for water. Other common features include frequent hand flapping, hyperactivity, and difficulty sleeping. Angelman Syndrome is caused by a mutation or deletion of the UBE3A gene, which is located on chromosome 15. Diagnosis is typically made through genetic testing and clinical evaluation, and treatment is based on managing the symptoms and providing support to those affected.