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Doctor insights on: Handling Angelman Syndrome Condition

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Please tell me if angelman syndrome is inherited or a disorder?

Please tell me if angelman syndrome is inherited or a disorder?

Sometimes: Some cases are due to a mutation carried by the mother. Most are due to spontaneous mutations or epigenetic events in the fertilized egg. So, the risk of Angelman may be inherited, but the disease may be genetic or due to epigenetic factors. It is one of the most complex genetic mechanisms yet discovered, and a clinical geneticist must analyze whether other family members are at up to 50% risk ...Read more

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Dr. Neeta Jain
67 doctors shared insights

Angelman Syndrome (Definition)

A genetic disorder that causes mental retardation, movement problems, and seizures. Children with Angelman syndrome typically laugh a lot and ...Read more


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How is angelman syndrome treated? and how is this disorder diagnosed?

How is angelman syndrome treated? and  how is this disorder diagnosed?

Dx 90% lab, 10% PE: A clinical geneticist can make a diagnosis by observing the combination of unusual behavioral features and pattern of developmental delay, usually by 2 years of age. 90% confirmed by convoluted genetic testing, 10% by clinical presentation alone. Treatment includes the full range of therapies for developmental delay, especially speech therapy initially concentrating on nonverbal communication. ...Read more

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Hello docs, is angelman syndrome inherited or a disorder?

Hello docs, is angelman syndrome inherited or a disorder?

Most of the time not: Angelman syndrome, while it is a genetic condition, is rarely inherited and thus the risk of it happening again in other children of the same parents is very low, . ...Read more

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Angelman syndrome information needed?

Angelman: The answer can be found here: http://www.Ninds.Nih.Gov/disorders/angelman/angelman.Htm. ...Read more

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What is the population affected by angelman syndrome?

What is the population affected by angelman syndrome?

Angelman s.: Newborns with genetic abnormality involving chromosome #15q ( partial deletion of short piece of that chromosome). ...Read more

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What is a way to detect a carrier of angelman syndrome?

What is a way to detect a carrier of angelman syndrome?

Angelman Syndrome: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their families. ...Read more

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What is the definition or description of: Angelman syndrome?

What is the definition or description of: Angelman syndrome?

Genetic disorder: Angelman Syndrome is a rare genetic neurological disorder with severe developmental delays and learning disabilities, minimal (if any) speech, and ataxia with a happy disposition and unprovoked episodes of laughter and smiling. It is associated with a mutation in the UBE3A gene. ...Read more

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Is angelman syndrome dominant or recessive?

Is angelman syndrome dominant or recessive?

Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation. ...Read more

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What are signs and symptoms of angelman syndrome?

What are signs and symptoms of angelman syndrome?

ANGELMAN SYNDROME: Angelman syndrome is a complex genetic disorder that affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Most affected children also have recurrent seizures and a small head size. Delayed development becomes noticeable by the age of 6 and other S/S appear. ...Read more

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What are the signs and symptoms of angelman syndrome?

What are the signs and symptoms of angelman syndrome?

Angelman: Happy kids, pleasant disposition, developmental and speech delay, seizures and ataxia(uncoordinated)walking. ...Read more

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Why is 18 month old being tested for angelman syndrome?

Why is 18 month old  being tested for angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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Is there anything you can do to prevent angelman syndrome?

No.: Most cases are sporadic, though some are familial. There is no association with either increased maternal or paternal age. The prevalence is estimated at 1 in 12, 000. ...Read more

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How do you know if your son or daughter has angelman syndrome?

How do you know if your son or daughter has angelman syndrome?

See below: Hypotonia, unsteady gait, bouts of uncontrollable inappropriate laughter, and intellectual disability are typical symptoms. Correct diagnosis requires genetic testing. ...Read more

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What is the difference between Angelman syndrome and Down syndrome?

What is the difference between Angelman syndrome and Down syndrome?

Neurodevelopmental : Disorders like AS & DS that cause Intellectual Disability differ in etiology, signs & symptoms & Neurobehavioral profiles including motor, language, cognitive & social/ adaptive skills. The genetic accident that causes DS gives a fetus 3 copies of Chromosome 21; a fetus with AS may lack a maternal UBE3A gene, have 2 copies of the gene from dad, or only dad's gene is active at Chr.15 q11.2-q13. ...Read more

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Lacking ubiquitin causes the sign and symptoms of angelman syndrome, is that true?

Lacking ubiquitin causes the sign and symptoms of angelman syndrome, is that true?

Lacking enzyme: Angelman Syndrome lacks a functioning ubiquitin ligase enzyme used in the metabolism of ubiquitin. ...Read more

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What is angelman syndrome?

What is angelman syndrome?

Angelman syndrome: It is a Neuro-genetic disorder resulting from abnormality of genes on Chromosome 15 . ...Read more

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What causes angelman syndrome?

What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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How to know what is angelman syndrome?

How to know what is angelman syndrome?

Happy Puppet Syndrom: As is a genetic disorder, a chromosome 15 deletion, characterized by intellectual and developmental delay, sleep disorder, seizures, jerky movements, abnormal gait, autistic behavior and frequent laughter or smiling.No cure is available, anti-seizure medications can be given for the seizures. ...Read more

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Angelman syndrome symptoms include what?

Angelman syndrome symptoms include what?

Angelman syndrome: Individuals with angelman syndrome have a characteristic facial appearance with microbrachycephaly, maxillary hypoplasia, deep-set eyes, and large mouth with tongue protrusion. The gait is jerky and puppet-like and behavior is marked by frequent spells of inappropriate laughter. Severe intellectual disability and speech impairment are usually present, and most suffer from epilepsy. ...Read more