Enfermedades degenerativas Flashcards

1
Q

Tipo mas frecuente de ataxia hereditaria

A

Ataxia de Friedreich

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2
Q

Herencia de la ataxia de Fiedreich

A

AR, brazo corto del cromosoma 9

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3
Q

Herencia de la ataxia-telangiectasia

A

AR, brazo largo del cromosoma 11

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4
Q

Triada clinica de ataxia-telangiectasia

A

Telangiectasias mucocutaneas, ataxia cerebelosa e infecciones bacterianas a repetición

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5
Q

Principal causa de muerte en pacientes con ataxia de Fiedreich

A

Insuficiencia cardiaca secundaria a miocardiopatia hipertrofica

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6
Q

Debilidad muscular progresiva, de inicio asimétrico y distal, mas frecuente en hombres

A

Esclerosis lateral amiotrofica

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