kef 31 ekfilistika nosimata tou n.s

Question 1

xaraktiristika ekfilistikwn nosimatwn kns

Answer 1

bradeia enarksi,proodevtiki poreia ,oikogenis emfanisi ,simmertriki emfanisi ,eklektiki vlavi

Question 2

se notiaio paregkefalidikes ataksies

Answer 2

avksisi CAG epomenos afksisi arithmwn gloutaminis stin prwteini pou tha ekftastei

Question 3

ti simainei ataksia

Answer 3

diataraxes kinitikis sinergeias (diataraxes paregkefalidas ,diataraxes prosagogwn kai apagogwn paregkefalidikwn odwn ,eitai aisthitikwn pliroforiwn)

Question 4

aitia sigkenous ataksias

Answer 4

disgenesia i agenesia paragkefalidikwn eitai stelexiaiwn dwmwn,pro i perigennitikes loimwkseis ,idrokefalos

Question 5

ekfilistikes nosoi kns pou kanoun paregkefalidiki ekflilisi => ataksia ,mporei na einai klironomikes

Answer 5

ipoleipomenes prin ta 20 epikrateis meta ta 20

Question 6

nwtaia klironimiki ataksia i nosos tou Friedreich klironomiko montelo

Answer 6

aftosomatiki ipolipomeni ataksia

Question 7

nosos tou Friedreich (valvi se paregkefalida kai nwtiaioparegkefalidika dematia,kai piramidika)(stin perifereia exoume megalitero provlima stin aisthitiki odo anti stin kinitiki) se 10-15 eti kataligei

Answer 7

xr9> avksisi GAA sto gonidio FRDA ,kodikopoiite i prwteini frataksini ,elegxei diodo fe sta mitoxonrdia,polli fe mitoxondria katastrefontai ==> vlavi se nevra miiko isto,paregkefalida nwtiaio mielo pagkreas

Question 8

se aftosomatiki epikratiki(efkrazete gyro sta 40) paregkefalidiki ataksia tipou 1

Answer 8

mri: atrofia egk stelexous kai paregkefalidas

diataraxes ofthalmoinitikotitas,optiki atrofia anoia eksipiramidika (parkinsonismo,xoreia ,distonia)

Question 9

avtosimatiki epikratitiki paregkefalidika ataksia tipou 2

Answer 9

ola ta simptwmata tis 1 + melagxrostiki ekfilisi tis wxras kilidas (ataksia kai tiflwsi)

Question 10

als(5% oikogenis morfi grnika agnwstis aitiologias)

Answer 10

taftoxroni prosvoli kentrikou(piramidika kitara floiou kai piramidiki odos kai) periferikou kinitikou nevrwna(kai stous promikikous kinitikous nevrwnes kai tou nwtiaiou mielou)

Question 11

diagnwsi als

Answer 11

kliniki, aparaititos nevrofisiologikos elegxos (img,kinitiki kai aisthitiki taxitita agwgis gia na apokleisoume alles aities)

Question 12

kliniki eikona ataksias friedreich

Answer 12

babisnky +,ataksia kormou kai katw akrwn,katergimena axileio kai epigonatio,koiliaka antanaklastika+,en tw vathi diataragmeni -pternizon vadisma,disarthria,MIIKES ADINAMIES katw akrwn,nistagmos optiki atrofia ,barikoia koilopidia ,sd

Question 13

diaforiki diagnwsi freidreich

Answer 13

epiktites sporadikes aities ataksias,paregkefalidiki ataksia apo eleipsi vit E

Question 14

kliniki eikona als

Answer 14

miiki adinamia arxika anw akrwn kai argotera katw akrwn,desmideseis kai epwdines miikes sispaseis,diatirisi tenontiwn kai koiliakwn antanaklasewn,diatirisi leitourgias sfiktirwn kai apousia aisthitikwn diataraxwn,telika katholiki paralisi kai thanatos entos 3-6 etwn

Question 15

diagnwsi pou stirizete stin als

Answer 15

stin prosvoli tou periferikou kin nevrwna: miiki adinamia atrofia desmidwseis ,kai kentrikou kinitikou nevrwna simeio babinski ,avksisi tenontiwn antanaklastikwn se atrofika kai adinama simeia

Question 16

ti paratireitai stin proodeftiki promikiki paralisi

Answer 16

enrini foni pou oi ofthalmikoi mies pote den prsvalontai,katergimena fariggika antanaklastika,atrofia amfoterolevri desmidwseis glwssas,masisi kataposi diskoli ,prosvoli promikous kako prognwstiko stixeio