Ubunzima bokuhamba kanye nokulahlekelwa ukulawula umzimba: Ake sixoxe nge-Friedreich's Ataxia.

Wake wazizwa sengathi uyanyakaza ngokuzumayo lapho uhamba, noma kunalokho, ulahlekelwa ibhalansi yakho? Noma ukuthola kunzima ukukhuluma noma ukufinyelela okuthile ngezandla zakho? Lokhu kungaba izimpawu zento ejulile kunokukhathala nje. Namuhla sikhuluma ngesimo esingavamile abantu abaningi ezweni lethu abangakaze bezwe ngaso, kodwa kubaluleke kakhulu ukuqaphela. Leyo yi-Friedreich 's Ataxia (FA).

Iyini ngempela i-Friedreich's Ataxia (FA)?

Kalula nje, yisifo esibangelwa izakhi zofuzo esonakalisa kancane kancane uhlelo lwethu lwezinzwa ngokuhamba kwesikhathi, okubangela ukunyakaza komzimba okungavamile, ubunzima bokuhamba, ukukhuluma, nokugwinya, kanye nokukhubazeka kokubona nokuzwa.

Cabanga ngemizwa emizimbeni yethu njengezintambo zocingo. Lezi zinzwa zithwala imiyalezo evela ebuchosheni iye kuwo wonke umzimba. Lokhu kuxhumana kubalulekile kithi ukuze sishukumise izitho zethu, sihambe, futhi sikhulume. Ku-FA, lezi zintambo zemizwa ziyawohloka kancane kancane futhi ziyeke ukusebenza kahle.

Lesi sifo sithinta nengxenye yobuchopho bethu ebizwa ngokuthi i- cerebellum . Le ngxenye ibaluleke kakhulu ekulawuleni ukunyakaza kwemizimba yethu kanye nokulinganisela. Kodwa into engcono kakhulu ukuthi, isifo se-FA asithinti inkumbulo yakho, ubuhlakani, noma ikhono lokucabanga. Lokho kusho ukuthi, noma ngabe unalesi sifo, ikhono lakho lokucabanga lihlala lijwayelekile.

Kungani lokhu kwenzeka?

Lesi yisimo sofuzo ngokuphelele. Lokho kusho ukuthi siqhubeka emindenini izizukulwane ngezizukulwane. Njengoba wazi, konke okusemizimbeni yethu kulawulwa izakhi zofuzo. Imbangela yalesi sifo ukukhubazeka kwezakhi zofuzo okuthiwa i-FXN. Ukuze umuntu abe nalesi sifo, kumele athole amakhophi alesi sakhi sofuzo se-FXN esingalungile kubo bobabili umama nobaba.

I-gene ye-FXN iyala umzimba ukuthi wenze iphrotheni ekhethekile ebizwa ngokuthi i-frataxin . Le phrotheni ibalulekile kumaseli ethu, ikakhulukazi amaseli ezinzwa namaseli emisipha yenhliziyo, ukuze akhiqize amandla. Uma unezakhi zofuzo ezimbili ze-FXN ezinephutha, umzimba awukwazi ukwenza iphrotheni ye-frataxin eyanele.

Uma le phrotheni ingekho, akuwona nje kuphela amaseli angakhiqizi amandla ngendlela efanele, kodwa nezinto ezinobuthi, ikakhulukazi i-iron, ziqala ukuqongelela ngaphakathi kwamaseli. Ngokuhamba kwesikhathi, yilokhu okulimaza uhlelo lwezinzwa futhi kubangele izimpawu ze-FA.

Yiziphi izimpawu eziyinhloko zalesi sifo?

Izimpawu zivame ukuqala phakathi kweminyaka emi-5 neyi-15. Kodwa-ke, ngezinye izikhathi izimpawu zingavela kusenesikhathi noma kamuva kakhulu, lapho umuntu esemdala.

Izimpawu zokuqala ubunzima bokuma nokuhamba, kanye nokulahlekelwa yibhalansi . Odokotela bakubiza lokhu ngokuthi i-ataxia yokuhamba . Ngokuhamba kwesikhathi, lezi zimpawu ziyanda kancane kancane, futhi kungase kuvele izimpawu ezintsha.

Uyithola kanjani ngokunembile lesi sifo?

Uma wena noma ingane yakho nibona udokotela, uzoqala ahlole umzimba wakho bese ekubuza imibuzo mayelana nezimpawu zakho. Uzonaka kakhulu okulandelayo:

• Ingabe unezinkinga zokulinganisela?
• Ulahlekelwe umuzwa emalungeni akho?
• Ingabe ama-reflex alahlekile?
• Zikhona yini ezinye izimpawu ezihlobene nesimiso sezinzwa?

Uma udokotela esola ukuthi lokhu kungaba yi-FA ngokusekelwe kulezi zimpawu, uzokudlulisela nakanjani ukuze uyohlolwa izakhi zofuzo. Kungaleso sivivinyo kuphela lapho singanquma khona ngokuqinisekile ukuthi kukhona yini iphutha ku-FXN gene.

Ngaphezu kwalokho, kungase kwenziwe ezinye izivivinyo eziningana ukuze kubonakale ukuthi kungakanani umonakalo owenziwe enhliziyweni nasezinzwa:

• I-MRI noma i-CT scan ukuhlola ubuchopho kanye nomgogodla.
• Ukuhlolwa kwe-electromyogram (EMG) ukuhlola ukusebenza kwemisipha kanye nezinzwa.
• Izifundo zokuqhuba imizwa zibheka isivinini imiyalezo ehamba ngaso ngemizwa.
• Hlola ukusebenza kwenhliziyo nge-electrocardiogram (EKG/ECG) kanye/noma i-echocardiogram (Echocardiogram) .
• Ukuhlolwa kwegazi ukuhlola amazinga kashukela egazini kanye namazinga e-vitamin E.

Yiziphi izindlela zokwelapha lokhu?

Okwamanje alikho ikhambi le-FA. Kodwa-ke, kunezinto eziningi ongazenza ukuze uphathe izimpawu futhi wenze impilo ibe lula. Muva nje, i-FDA e-United States igunyaze umuthi obizwa ngokuthi i-Skyclarys (omaveloxolone) walesi sifo.

Udokotela wakho, isazi se-physiotherapist, kanye nabanye ochwepheshe bazosebenzisana ukukusiza. Uhlelo lokwelapha lungafaka:

• Ukuhlinzwa noma ukusetshenziswa kwezisekeli ezikhethekile (ama-braces) zobuhlungu bomhlane noma ukukhubazeka kwezinyawo.
• Ukwelashwa ngokomzimba ukuze umzimba uhlale usebenza ngangokunokwenzeka.
• Ukwelashwa kwenkulumo kwezinkinga zokukhuluma nokugwinya.
• Imishini efana nezicathulo ezikhethekile, izinduku, noma izihlalo zabakhubazekile ukuze kube lula ukuhamba.
• Imithi yokwelapha ubuhlungu uma kudingeka.
• Ukwelapha izimo ezifana nesifo sikashukela kanye nezimo zenhliziyo ezingase zivele ngalesi sifo.

Impilo yengqondo nokuthola ukwesekwa

Kuvamile ukuzizwa ukhungathekile futhi ushaqekile uma uthola ukuthi unesifo esingavamile nesingelapheki njengalesi. Yingakho kubaluleke kakhulu ukucabanga ngempilo yakho yengqondo kanye nempilo yakho yomzimba.

Khumbula, ukucindezeleka kuyisimo esingelapheka.Kungaba impumuzo enkulu futhi ukukhuluma ngemizwa yakho nomndeni nabangane. Ukujoyina iqembu lokusekelana lapho ungahlangana khona nabanye abantu abaphila nesifo esifanayo nawe kungakusiza uzizwe ungedwa.