Angelman syndrome - Symptoms and causes - Mayo Clinic
2024年3月8日 · Angelman syndrome is a condition caused by a change in a gene, called a genetic change. Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures.
Angelman syndrome - Wikipedia
Angelman syndrome is caused by the lack of expression of a gene known as UBE3A during development. [14] This gene is located within a region of chromosome 15 known as 15q11-q13 and is part of the ubiquitin pathway.
Angelman Syndrome: What It Is, Symptoms & Treatment
2022年4月7日 · Most people with Angelman syndrome will have a normal life span. They won’t have any developmental regression, and their behavioral symptoms might improve with self-help skills and supportive care. Most people with Angelman syndrome need constant care and attention due to their behavior.
Angelman Syndrome - National Institute of Neurological …
2024年7月19日 · Angelman syndrome is a genetic disorder that primarily affects the nervous system. The disorder is named after Dr. Harry Angelman who first reported the syndrome in 1965.
Angelman Syndrome - Symptoms, Causes, Treatment | NORD
2018年2月14日 · Angelman syndrome was first described in the medical literature in 1965 by Dr. Harry Angelman, an English physician. The characteristic findings of Angelman syndrome are not usually apparent at birth and diagnosis of the disorder is usually made between 1 …
Angelman Syndrome - GeneReviews® - NCBI Bookshelf
1998年9月15日 · Angelman syndrome (AS) is characterized by severe developmental delay and intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability.
Angelman syndrome - MedlinePlus
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia).
Angelman Syndrome - StatPearls - NCBI Bookshelf
2023年8月8日 · In 1965 Harry Angelman, a British pediatrician, described the "Puppet Children," later being renamed Angelman syndrome (AS). Angelman described three children who had similar symptoms of learning disability, minimal or absent speech, ataxic and jerky movements, and a happy social disposition.
Angelman syndrome - Diagnosis and treatment - Mayo Clinic
2024年3月8日 · Your child's healthcare professional may suspect Angelman syndrome if your child has developmental delays, talks little or not at all, or has other symptoms. Symptoms might include seizures, trouble with movement and balance or a small head size.
Angelman syndrome - NHS
Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. A person with Angelman syndrome will have a near-normal life expectancy, but they will need support throughout their life.