sindrome di Angelman
Also known as happy puppet syndrome, puppetlike syndrome, AS, Happy Puppet Syndrome, Formerly, Angelman Syndrome Chromosome Region
malattia genetica umana
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
Article · Italiano
La sindrome di Angelman è una malattia genetica dovuta a un difetto nella duplicazione cromosomica da imprinting genetico.
Abstract from DBpedia / Wikipedia · CC BY-SA