Ataxias Heredo Degenerativas

Ataxias heredodegenerativas. Dra. Norma Obaid Hospital de Rehabilitación Santa Fe 2006

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Aproximación clínica Confirmar si la ataxia está presente. Descartar causas tratables . Hay clara historia familiar. Buscar causas infrecuentes. Es conocido el gen alterado. Estudio genético . Obtener reporte confirmado. Consejo genético y manejo sintomático.

Diagnóstico ,[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object]

Causas de historia familiar negativa en desórdenes hereditarios ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxias hereditarias ,[object Object],[object Object],[object Object],[object Object]

Sustrato anatomopatológico ,[object Object],[object Object],[object Object],[object Object]

Sustrato anatomopatológico ,[object Object],[object Object]

Ataxias autosómicas dominantes ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 1 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 2. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 3/ enfermedad de Machado – Joseph. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 4. ,[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 5. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 7. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 8. ,[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 11. ,[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 12. ,[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa tipo 13 – 16. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Atrofia Dentatorubropalidolusiana. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia episódica tipo 1. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia episódica tipo 2. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxias autosómicas recesivas. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia de Friedreich. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia telangectasia. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia asociada a deficiencia de vitamina E. ,[object Object],[object Object],[object Object]

Ataxia con apraxia oculomotora. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxia espástica autosómica recesiva de Charlevoix – Saguenay. ,[object Object],[object Object],[object Object],[object Object]

Ataxia espinocerebelosa con neuropatía axonal. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxias ligadas a X. ,[object Object],[object Object],[object Object],[object Object]

Ataxias mitocondriales. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Clasificación antigua ( harding ). ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Tratamiento sintomático. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ataxias Heredo Degenerativas

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