Angelmans syndrom
Also known as happy puppet syndrome, puppetlike syndrome, AS, Happy Puppet Syndrome, Formerly, Angelman Syndrome Chromosome Region
genetic condition in humans
Key facts
- Other names
- Angelman's syndrome
- Pronunciation
- / ˈ æ ŋ ɡ ə l m ə n / , / ˈ æ n dʒ əl m ə n / , or / ˈ eɪ n dʒ əl m ə n /
- Specialty
- Medical genetics
- Symptoms
- Delayed development, happy demeanor, intellectual disability , limited to no functional speech, balance and movement problems, small head, seizures
- Usual onset
- Noticeable by 6–12 months
- Causes
- Genetic (new mutation)
- Diagnostic method
- Based on symptoms, genetic testing
- Differential diagnosis
- Cerebral palsy , autism , Rett syndrome , Prader–Willi syndrome
- Treatment
- Supportive care
- Prognosis
- Nearly normal life expectancy
- Frequency
- 1 in 12,000 to 20,000 people
via Wikipedia infobox
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Angelmans syndrom uppstår genom en avvikande funktion i kromosomen 15 och innebär svår funktionsnedsättning. Sjukdomen är uppkallad efter den brittiske läkaren Harry Angelman som 1965 beskrev tre fall. Det dröjde dock fram till 1982 innan det nuvarande namnet antogs.
Abstract from DBpedia / Wikipedia · CC BY-SA