Ubunzima bokuhamba kunye nokulahlekelwa kukulawula umzimba: Masithethe ngeFriedreich's Ataxia.

Ngaba wakha waziva ngathi ngequbuliso uyashukuma xa uhamba, okanye, ulahlekelwa yibhalansi yakho? Okanye ngaba ukufumanisa kunzima ukuthetha okanye ukufikelela kwinto ethile ngezandla zakho? Ezi zinokuba ziimpawu zento enzulu kunokudinwa nje. Namhlanje sithetha ngemeko engaqhelekanga abantu abaninzi kwilizwe lethu abangazange bayive nokuva ngayo, kodwa kubaluleke kakhulu ukuba uyiqaphele. Yiyo leyo i-Friedreich 's Ataxia (FA).

Yintoni kanye kanye iFriedreich's Ataxia (FA)?

Ngamafutshane, sisifo semfuza esonakalisa kancinci kancinci inkqubo yethu yemithambo-luvo ngokuhamba kwexesha, sibangela iintshukumo zomzimba ezingaqhelekanga, ubunzima bokuhamba, ukuthetha, nokuginya, kunye nokuphazamiseka kokubona nokuva.

Cinga ngemithambo-luvo emizimbeni yethu njengeentambo zefowuni. Le mithambo-luvo ithwala imiyalezo esuka engqondweni iye kuwo wonke umzimba. Olu nxibelelwano lubalulekile ukuze sishukumise amalungu ethu, sihambe, kwaye sithethe. Kwi-FA, le mithambo-luvo iyancipha kancinci kancinci ize iyeke ukusebenza kakuhle.

Esi sifo sikwachaphazela nenxalenye yengqondo yethu ebizwa ngokuba yi- cerebellum . Le nxalenye ibaluleke kakhulu ekulawuleni iintshukumo zomzimba wethu kunye nokulinganisela. Kodwa eyona nto ilungileyo kukuba, isifo se-FA asiyichaphazeli inkumbulo yakho, ubukrelekrele, okanye amandla okucinga. Oko kuthetha ukuba, nokuba unesi sifo, amandla akho okucinga ahlala eqhelekileyo.

Kutheni oku kusenzeka?

Le yimeko yemfuza ngokupheleleyo. Oko kuthetha ukuba iqhubeka kwiintsapho ukusuka kwisizukulwana ukuya kwesinye. Njengoko nisazi, yonke into emizimbeni yethu ilawulwa zi-genes. Unobangela wesi sifo sisiphene kwi-gene ebizwa ngokuba yi-FXN. Ukuze umntu abe nesi sifo, kufuneka afumane iikopi zale gene ye-FXN enesiphene kumama notata wakhe.

I-gene ye-FXN iyalela umzimba ukuba wenze iproteni ekhethekileyo ebizwa ngokuba yi-frataxin . Le proteni ibalulekile kwiiseli zethu, ingakumbi iiseli zemithambo-luvo kunye neeseli zemisipha yentliziyo, ukuze zivelise amandla. Xa une-gene ezimbini ze-FXN ezineengxaki, umzimba awukwazi ukwenza iproteni ye-frataxin eyaneleyo.

Xa le protein ingekho, iiseli azikwazi nje kuphela ukuvelisa amandla ngokufanelekileyo, kodwa nezinto ezinobuthi, ingakumbi i-iron, ziqala ukuqokelelana ngaphakathi kweeseli. Ekuhambeni kwexesha, oku kuyonakalisa inkqubo yemithambo-luvo kwaye kubangele iimpawu ze-FA.

Ziziphi iimpawu eziphambili zesi sifo?

Iimpawu zihlala ziqala phakathi kweminyaka emi-5 neli-15 ubudala. Nangona kunjalo, ngamanye amaxesha iimpawu zinokubonakala kwangethuba okanye kamva kakhulu, xa umntu emdala.

Iimpawu zokuqala kubunzima bokuma nokuhamba, kunye nokulahlekelwa kukulinganisela . Oogqirha babiza oku ngokuba yi-ataxia yokuhamba . Ekuhambeni kwexesha, ezi mpawu ziyanda kancinci kancinci, kwaye iimpawu ezintsha zinokuvela.

Ungayixilonga njani ngokuchanekileyo le sifo?

Xa wena okanye umntwana wakho nibonana nogqirha, uza kuqala ahlole umzimba wakho aze akubuze imibuzo malunga neempawu zakho. Uza kuqwalasela oku kulandelayo:

• Ngaba unengxaki yokulinganisela?
• Ngaba ulahlekelwe kukuziva kwamalungu akho?
• Ngaba ii-reflexes ziyalahleka?
• Ngaba kukho ezinye iimpawu ezinxulumene nenkqubo yemithambo-luvo?

Ukuba ugqirha ukrokrela ukuba oku kungaba yi-FA ngokusekelwe kwezi mpawu, ngokuqinisekileyo uza kukuthumela kuvavanyo lwemfuza. Kuphela ngolo vavanyo apho sinokubona ngokuqinisekileyo ukuba kukho isiphene kwi-FXN gene.

Ukongeza, kunokwenziwa olunye uvavanyo ukuze kubonwe ukuba umonakalo owenziweyo entliziyweni nakwimithambo-luvo ungakanani:

• Ii-MRI okanye ii-CT scans ukuze kuhlolwe ubuchopho kunye nomqolo.
• Uvavanyo lwe-electromyogram (EMG) ukujonga ukusebenza kwezihlunu kunye nemithambo-luvo.
• Izifundo zokuqhuba imithambo-luvo zijonga isantya imiyalezo ehamba ngaso kwimithambo-luvo.
• Jonga ukusebenza kwentliziyo nge-electrocardiogram (EKG/ECG) kunye/okanye i-echocardiogram (Echocardiogram) .
• Uvavanyo lwegazi ukujonga amanqanaba eswekile egazini kunye namanqanaba evithamini E.

Zithini iindlela zonyango zoku?

Okwangoku akukho nyango lwe-FA. Nangona kunjalo, zininzi izinto onokuzenza ukulawula iimpawu nokwenza ubomi bube lula. Kutshanje, i-FDA eMelika ivumile iyeza elibizwa ngokuba yiSkyclarys (omaveloxolone) lesi sifo.

Ugqirha wakho, ingcali ye-physiotherapist, kunye nezinye iingcali baya kusebenzisana ukukunceda. Isicwangciso sonyango singabandakanya:

• Utyando okanye ukusetyenziswa kwezixhobo ezikhethekileyo zokuxhasa iintlungu zomqolo okanye ukukhubazeka kweenyawo.
• Unyango lomzimba ukuze umzimba uhlale usebenza kangangoko.
• Unyango lokuthetha olunceda ekulweni nobunzima bokuthetha nokuginya.
• Izixhobo ezifana nezihlangu ezikhethekileyo, iintonga, okanye izihlalo ezinamavili ukuze kube lula ukuhamba.
• Amayeza okunyanga iintlungu ukuba kuyimfuneko.
• Ukunyanga izifo ezifana nesifo seswekile kunye nezifo zentliziyo ezinokubakho ngesi sifo.

Impilo yengqondo nokufumana inkxaso

Kuqhelekile ukuziva uxinezelekile kwaye wothukile xa ufumanisa ukuba unesifo esingaqhelekanga nesinganyangekiyo esifana nesi. Yiyo loo nto kubaluleke kakhulu ukucinga ngempilo yakho yengqondo kunye nempilo yakho yomzimba.

Khumbula, ukudakumba yimeko enokunyangeka.Kungakunceda kakhulu ukuthetha ngeemvakalelo zakho nosapho kunye nabahlobo. Ukujoyina iqela lenkxaso apho unokudibana nabanye abantu abaphila nesifo esifanayo nawe abanokukunceda uzive ungedwa.