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Angelmanův syndrom - etiologie a klinický obraz onemocnění
HOLEČKOVÁ, Karolína
Angelman syndrome (Happy puppet syndrome) is a rare genetic disease. It is a microdeletion syndrome, mostly caused by maternal deletion of chromosome 15q11-q13, or by paternal uniparental disomy of chromosome 15, or by other mutation (for example mutations in UBE3A gene). Angelman syndrome was first described in 1965 by Harry Angelman, an English pediatrician. It is estimated that this disease occurs in 1 in 10 000 to 1 in 30 000 individuals. The syndrome is characterised by severe mental retardation, underdeveloped speech or absent (rather nonverbal expression is used), motor skills problems (stiff walk, jerky movements, reminiscent of puppet), happy mood and unreasonable fits of laughter. There are epileptic seizures, attention deficit disorder, abnormal EEG, hypotonia or microcephaly in approximately 80 % of cases.
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