Prader-Willi Catalunya – Associació de famílies afectades ...... . Created Date: 3/8/2015 8:24:45 PM
Sindromes prader willi y angelman
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Sindromes Prader-Willi y Angelman
Carmen Díaz Pérez
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Características Clínicas
Sindrome Angelman
• retraso mental grave• • epilepsia severa• • episodios de risa• • ausencia del lenguaje• • microcefalia..
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Sindrome Prader-Willi
• Poco movimiento fetales• Hipo pigmentación de la piel• Hipotonía muscular• Llanto débil y a graves• Problemas en la alimentación• Retraso mental variable• Hipo gonadismo
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Bases Citogeniticas
trastornos genéticos asociados a una alteración (microdeleción, disomía uniparental, mutaciones puntuales o falla en el imprinting) del brazo largo (q) del cromosoma número 15, específicamente de la región 15q11-q13.
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Bases Moleculares
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Disomia Uniparental Materna
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Fisiopatología SPW
• Crecimiento y obesidad : Hipogonadismo (GH)• Criptoquidia, Hipogonadismo y Des. Sexual ( deficit GnRH, LH , FSH )• Osteoporosis : Hipotonia, obsidad, deficit GH y IGF-1
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Fisiopatología Síndrome de Angelman
• Problemas Neurologicos : mutacion gen UBE3A• Trastorno motor• Trastornos del sueño• Epilepsia
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Epidemiologia
• Angelman
• Prevalence• Approximately 1 in 25,000.• Diagnosis is commonly made at age 3-7 years, when
the clinical features and behaviours become apparent.
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Prader-Willi
It is relatively common - prevalence 1/15,000-1/30,000. Despite the genetic cause it appears to be sporadic rather than inherited in a Mendelian pattern. Sex ratio is equaland it occurs in all races.
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GRACIA
S