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Síndrome de Temblor Ataxia asociado a Síndrome de X Frágil

Description

Herencia dominante ligada al X

Mind Map by cecilia montes, updated more than 1 year ago

	Created by cecilia montes over 5 years ago

36

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Resource summary

Síndrome de Temblor Ataxia asociado a Síndrome de X Frágil

Frecuencia
Annotations:
- 40% hombres premutados gen FMR1 16% mujeres premutadas gen FMR1
Causado por premutación en el gen FMR
Annotations:
- Premutación 55-200 repeticiones CGG del gen FMR1 Mutación completa: +200 repeticiones del gen FMR1 Zona gris: 45-55 repeticiones del gen FMR1
Clínica
Annotations:
- Temblor intencional parquinsonismo demencia retaso cognitivo patologia psiquiatricaFallo ovarico prematuro
1. Fenotipo
Herencia
Histopatología
Tratamiento
1. Farmacológico
2. Estilo de Vida

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