Ingabe ingane yakho inenkinga yokuhamba? Ake sifunde nge-Friedreich's Ataxia!

Ingabe ingane yakho iyanyakaza kancane lapho ihamba noma igijima? Wake wazizwa sengathi inenkinga yokugcina ibhalansi? Noma kuyinto evamile ukuzizwa wesaba kakhulu futhi ukhathazekile uma ubona izimpawu ezinjalo enganeni encane? Namuhla sizokhuluma ngesimo sofuzo esingavamile kodwa esibaluleke kakhulu okufanele usiqaphele ngezikhathi ezinjalo. Lokhu kubizwa ngokuthi i-Friedreich's ataxia, noma `(FA)` noma `(FRDA)` ngamafuphi.

Iyini i-Friedreich's Ataxia?

Kalula nje, i-Friedreich's Ataxia yisimo sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye. Lokhu kubangela ukuthi isimiso sethu sezinzwa siwohloke kancane kancane, okubangela izinkinga ngokunyakaza kwemizimba yethu. Ngokuqondile, ikhono lokulawula imisipha yethu liyancipha. Yilokhu esikubiza ngokuthi "i-Ataxia." Lesi simo sivame ukuba sibi kakhulu ngokuhamba kwesikhathi.

Esikhathini esiningi, lezi zimpawu ziqala esemncane. Okusho ukuthi, ngesikhathi sobuntwana. Kodwa lokhu akuyona nje into ethinta isimiso sezinzwa. Kungathinta nezindawo ezifana nesistimu yakho yamathambo, inhliziyo, kanye ne-pancreas. Kodwa izindaba ezinhle ukuthi, azithinti amakhono akho okucabanga, okungukuthi, amakhono akho obuhlakani (Imisebenzi Yokuqonda).

I-Friedreich's ataxia ingenye yezinhlobo ezivame kakhulu ze-ataxia ezizuzwa njengefa, kodwa iyisifo esingavamile kakhulu. E-United States, sithinta cishe umuntu oyedwa kubantu abangu-50,000. Emhlabeni wonke, sithinta cishe umuntu oyedwa kubantu abangu-40,000. Lesi sifo saqala ukutholwa futhi sachazwa ngo-1863 ngudokotela ogama lakhe linguNicholas Friedreich. Yingakho siqanjwe ngaye.

Kuvamile ukuzizwa wesaba lapho ingane yakho iqala ukuba nenkinga yokuhamba noma ilahlekelwa yibhalansi yayo. Ungase uzibuze, "Lokhu kuzoqhubeka isikhathi esingakanani? Lokhu kuzothinta kanjani impilo yengane yami?" Into engcono kakhulu ongayenza ukubona udokotela ochwepheshe kulezi zimo. Ngaleyo ndlela, ungathola izimpendulo zemibuzo yakho futhi uthole ukwesekwa okudingayo kulolu hambo.

Ingabe kunezinhlobo ezahlukene ze-Friedreich's ataxia (FA)?

Yebo, i-ataxia "ejwayelekile" kaFriedreich ivame ukuvela ngaphambi kweminyaka engu-25. Kodwa-ke, kunezinye izinhlobo ezimbili ezingavamile. Lezi zibalwa cishe ku-15% wazo zonke izimo ze-FA:

• I-Friedreich's ataxia (LOFA) eqala ngasekupheleni: Kulolu hlobo, izimpawu zivela ngemva kweminyaka engu-25.
• I-Friedreich's ataxia (VLOFA) eqala sekwephuzile kakhulu: Lapha, izimpawu ziqala ngemva kweminyaka engu-40.

Lezi zinhlobo ezimbili, `(LOFA)` kanye `(VLOFA)`, zinzima kancane kune `(FA)` evamile.

Ziyini izimpawu zalesi simo?

Izimpawu ze-Friedreich's ataxia zivame ukuqala phakathi kweminyaka emi-5 neyi-15. Kodwa-ke, abanye abantu bangase babe nezimpawu besebancane ngeminyaka emi-2, kanti abanye sebekhulile ngeminyaka engama-50.

Izimpawu zokuqala ezibonakalayo

Izimpawu zokuqala zemizwa ezibonakala izinkinga zokuma, ukuhamba, kanye nokulinganisela (okubizwa ngokuthi i-Gait Ataxia). Ngokuhamba kwesikhathi, lezi zimpawu ziya ngokuya ziba zimbi, futhi kungase kuvele izimpawu ezintsha.

Izimpawu eziyinhloko ezihlobene nesistimu yezinzwa ze-`(FA)` yilezi:

• Ubuthakathaka bemisipha.
• Ukulahlekelwa ibhalansi kanye nokuxhumana (i-Ataxia).
• Ukulahlekelwa umuzwa wokuthinta (lokhu kubizwa ngokuthi `(Peripheral Neuropathy)`).
• Ubuthakathaka be-reflexes (Hyporeflexia).

Ungathola lezi zici lapha:

• Ubunzima bokuma, ukuhamba, nokugijima.
• I-Chorea ukuthuthumela nokuthuthumela kwamalungu ngaphandle kokuzithandela.
• Ukulahlekelwa umuzwa oqala emilenzeni bese usakazekela ezingalweni nasesiswini.
• Ukukhathala okuqhubekayo.
• Uma ukhuluma, amagama ayadida futhi inkulumo iyashesha (i-Dysarthria).
• Ubunzima bokugwinya ukudla (i-Dysphagia).
• I-Spasticity umuzwa wokuqina kwemisipha.
• Ukulahlekelwa umuzwa wesikhundla somzimba wakho (Ukulahlekelwa `(Proprioception)`).
• Ukulahlekelwa Yizindlebe.
• Ukulahlekelwa Ukubona.
• Ukukhubazeka kwe-Scoliosis kanye/noma ukukhubazeka kwezinyawo. Isibonelo, izinyawo eziphendukela ngaphakathi, ama-arches aphezulu, kanye nezinyawo ezimfushane (i-Pes Cavus).

Cabanga nje, kukhona ingane eneminyaka engu-8 ubudala egama layo linguSadun. Wayengumgijimi omuhle futhi edlala naye. Kodwa sekuyisikhathi eside manje, ubelokhu ekhubeka lapho ehamba, sengathi akakwazi ukugcina ibhalansi yakhe. Ngisho nalapho edlala esikoleni, uyawa lapho egijima nabangani bakhe. Ekuqaleni, abazali bakhe babecabanga ukuthi kuyinto encane. Kodwa kwaba yilapho bemkhombisa udokotela kuphela lapho baqala khona ukwazi ngale `(FA)`.

Ezinye izinkinga ezingase zenzeke ngenxa ye-Friedreich's ataxia (FA)

Cishe abantu abangu-75% abane-FA bangase babe nesifo senhliziyo. Okuvame kakhulu kulezi yilokhu:

Imiphumela enhliziyweni

• I-Cardiac Autonomic Neuropathy.
• I-hypertrophic cardiomyopathy.
• Ukuphazamiseka kwenhliziyo (i-Arrhythmia).

Ngaphezu kwalokho, ezinye izinkinga zenhliziyo ezingabangelwa yi-`(FA)` zifaka:

• I-Myocarditis.
• Ukulimala kwemisipha yenhliziyo (i-Myocardial Fibrosis).
• Ukwanda kwenhliziyo (i-Cardiomegaly).
• Ukwehluleka Kwenhliziyo Okubangelwa Ukuqina Kwenhliziyo.
• Inhliziyo esheshayo (i-Tachycardia).
• I-fibrillation ye-atrial.
• I-Heart Block.

Ingozi yokuba nesifo sikashukela

I-FA ingalimaza amaseli e-pancreas yakho akhiqiza i-hormone i-insulin. I-insulin ibalulekile ekulawuleni amazinga kashukela egazini. Ngakho-ke, uma i-insulin ingekho eyanele, amazinga kashukela egazini ayanda, okubangela i-hyperglycemia. Lokhu kungaholela kushukela. Cishe abantu abangu-30% abane-FA bahlakulela isifo sikashukela.

Iyini imbangela yalokhu? Ingabe kuyithonya lezakhi zofuzo?

Yebo, i-Friedreich's ataxia iyisimo esibangelwa izakhi zofuzo ngokuphelele. Ibangelwa ushintsho, noma ukuguquka kwezakhi zofuzo, okuthiwa ``FXN''. Lesi sakhi sofuzo siphethe ikhodi yokwenza iphrotheni ebaluleke kakhulu emzimbeni wethu, ``Frataxin'' .

I-Frataxin iyiprotheni esebenza kuma-mitochondria.

I-Frataxin iyiprotheni etholakala ku -mitochondria , izingxenye ezikhiqiza amandla zamaseli ethu. Nakuba ososayensi bengakaqondi ngokugcwele ukuthi isebenza kanjani, bathole ukuthi i-frataxin ibalulekile ekusebenzeni okuvamile kwe-mitochondria. Ukuguqulwa kwezakhi zofuzo okubangela i-frataxin (FA) kuvimbela ngokuphelele ukukhiqizwa kweprotheni ye-frataxin.

Uma singenayo i-frataxin eyanele, amanye amangqamuzana emizimba yethu awakwazi ukukhiqiza amandla ngendlela efanele. Futhi, imikhiqizo enobuthi iqala ukuqongelela. Lokhu kubizwa ngokuthi ukucindezeleka kwe-oxidative . Lokhu kulimaza amangqamuzana ethu.

Amaseli ezindaweni ezilandelayo athintwa kakhulu yi-`(FA)`:

• Imizwa Yomphetho.
• Umhlonzo.
• Ubuchopho, ikakhulukazi i-cerebellum.
• Imisipha yenhliziyo.

Lena yi-Autosomal Recessive Heritage Pattern.

I-Friedreich's ataxia yenzeka kuphela uma uthola amakhophi amabili aguquliwe e-gene (FXN), kokubili kumama wakho nakubaba. Odokotela bakubiza lokhu ngokuthi iphethini yefa le-autosomal recessive .

Bobabili abazali bomuntu onalesi sifo bavame ukuba nekhophi eyodwa yesakhi sofuzo esiguquliwe (okungukuthi, bangabathwali ). Kodwa ngokuvamile ababonisi izimpawu. Cabanga, uma bobabili abazali bengabathwali, uma benengane:

• Kunethuba elingama-25% lokuthi ingane izoba ne-`(FA)` (uma zombili izakhi zofuzo eziguquliwe zizuzwe njengefa).
• Kunethuba elingu-50% lokuthi ingane izoba yithwali (uma ifa lofuzo olulodwa oluguquliwe).
• Kunethuba elingama-25% lokuthi ingane izoba nempilo enhle ngaphandle kokuthola noma yiziphi izakhi zofuzo eziguquliwe.

Ukuthola kanjani lokhu ngqo? (Ukuxilongwa)

Okokuqala, udokotela wengane yakho uzobuza ngezimpawu kanye nomlando wezokwelapha womndeni. Ngemuva kwalokho bazokwenza ukuhlolwa okuphelele komzimba kanye nokuhlolwa kwezinzwa.

Okulandelayo, udokotela cishe uzoncoma ukuhlolwa okuningana okuhlukene.Ukuhlolwa kofuzo kuyindlela eyinhloko yokuhlola i-Friedreich's ataxia. Ngaphezu kwalokho, ukuhlolwa okulandelayo kungenziwa ukusiza ekuxilongweni kanye/noma ukuhlola izindawo zomzimba ezingase zithinteke yi-(FA):

• I-MRI noma i-CT scan: Lokhu kungathatha izithombe zobuchopho bakho kanye nomgogodla. Kungasiza udokotela wakho ukuthi akhiphe ezinye izifo zezinzwa.
• Izifundo ze-Electromyogram (EMG) kanye ne-Nerve Conduction: Lezi zivivinyo zihlola ukuthi imisipha yakho nezinzwa zisebenza kanjani.
• I-Electrocardiogram (ECG/EKG): Lokhu kubonisa ukusebenza kukagesi kwenhliziyo yakho, okungukuthi, iphethini yokushaya kwenhliziyo.
• I-Echocardiogram: Lokhu kuveza izithombe zokunyakaza kwenhliziyo yakho.
• Ukuhlolwa kwegazi: Ukuhlolwa kwegazi okunye kungenziwa ukuhlola izinto ezifana namazinga kashukela egazini kanye namazinga kavithamini E.

Yiziphi izindlela zokwelapha i-Friedreich's ataxia (FA)?

Lezi yizindaba ezinhle ngempela! Ngo-2023, i-US Food and Drug Administration (FDA) yagunyaza umuthi wokuqala ngqo we-Friedreich's ataxia. Ubizwa ngokuthi i-Omaveloxolone (SKYCLARYS™) . Ungasetshenziswa kubantu abaneminyaka engu-16 nangaphezulu. Izifundo zikhombisile ukuthi lo muthi ungathuthukisa ukusebenza kwezinzwa kanye nesimo se-"Ataxia" ngezinga elithile. Ucwaningo olwengeziwe luyenziwa ngemiphumela yesikhathi eside yalo muthi.

Kodwa-ke, i-Omaveloxolone ayilona ikhambi le-FA. Ngaphezu kwalomuthi, umgomo oyinhloko wokwelashwa ukulawula izimpawu nezinkinga ze-FA nokukusiza uphile kahle ngangokunokwenzeka. Ukwelashwa okunjalo kungafaka:

• Ukwelashwa Komzimba: Gcina ukusebenza kwemisipha isikhathi eside, uthuthukise ukubambisana, ibhalansi, kanye namandla.
• Ukwelapha Ngenkulumo: Thuthukisa ukukhuluma nokugwinya ngokuqeqesha kabusha imisipha yolimi nobuso.
• Ama-braces noma ukuhlinzwa kwezinkinga ezihlobene namathambo njengokukhubazeka kwezinyawo kanye ne-scoliosis.
• Uma unezinkinga zenhliziyo, thatha imithi yazo.
• Uma unesifo sikashukela, thatha imithi yaso.
• Ukwelashwa kobuhlungu.
• Ama-antibiotic okuvimbela noma ukwelapha izifo.
• Amadivayisi asiza ngokuhamba, isibonelo izicathulo ezikhethekile, izindondolo, izihlalo zabakhubazekile.
• Ukufakelwa inhliziyo kuyindlela yokwelapha i-FA encane, kodwa uma kukhona i-cardiomyopathy ebalulekile.

Ukuze uphathe i-FA, uzodinga usizo lwethimba lodokotela elihlanganisa imikhakha eminingi. Leli qembu lingafaka:

• Odokotela bezinzwa.
• Odokotela benhliziyo.
• Izazi Zezakhi Zofuzo Zezokwelapha Neze-Biochemical.
• Odokotela be-Endocrinologists bangodokotela abangochwepheshe ohlelweni lwe-endocrine.
• Abelaphi bomzimba.
• Izazi zezifo zokukhuluma nezolimi.
• Abelaphi bezemisebenzi.
• Odokotela abahlinzayo bamathambo.
• Izazi zengqondo.

I-Friedreich's ataxia ithinta wonke umuntu ngendlela ehlukile futhi ithuthuka ngamazinga ahlukene. Ithimba lezokwelapha lengane yakho lizokwakha uhlelo lokwelapha oluhambisana nezimpawu zengane yakho futhi lungalungiswa njengoba ikhula.

Ingabe ikhona indlela yokuvimbela lokhu?

Ngenxa yokuthi i-Friedreich's ataxia ibangelwa ushintsho lwezakhi zofuzo, akukho ongakwenza ukuyivimbela. Kodwa-ke, uma uhlela ukuba nezingane, ungakhuluma nodokotela wakho noma umeluleki wezakhi zofuzo mayelana nokuhlolwa ukuze uthole ngengozi yakho yokuba nengane enesifo sofuzo njenge-Friedreich's ataxia.

Kuyini ukubikezela komuntu one-Friedreich's ataxia (FA)?

Into ebaluleke kakhulu okufanele uyikhumbule ukuthi akuwona wonke umuntu one-Friedreich's ataxia othinteka ngendlela efanayo. Akekho ongakutshela ngqo ukuthi isibikezelo sakho sizoba yini. Into engcono kakhulu ongayenza ukuze ulungiselele ikusasa ukukhuluma nochwepheshe abacwaninga futhi belapha i-Friedreich's ataxia.

Mayelana nesikhathi sokuphila

Ngenxa yokuthi i-Friedreich's ataxia yisimo esiba sibi ngokuhamba kwesikhathi, isikhathi sokuphila sabantu abane-`(FA)` singase sibe sifushane kancane kunesomphakathi jikelele. Imbangela ehamba phambili yokufa kubantu abane-`(FA)` yisimo esibizwa ngokuthi i-`Hypertrophic Cardiomyopathy`.

Kodwa i-FA ayithinti wonke umuntu ngendlela efanayo. Iningi labantu abane-FA liphila okungenani lize lifike eminyakeni engama-30. Abanye baphila lize lifike eminyakeni engama-60 noma ngisho nangaphezulu.

Kufanele ufune nini iseluleko sezokwelapha?

Uma wena noma ingane yakho ninesifo i-Friedreich's ataxia, kufanele nibone ithimba lezokwelapha njalo ukuze nithole ukwelashwa nokuqapha izimpawu.

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho ine-Friedreich's Ataxia (FA). Kodwa ithimba lakho lezokwelapha lizokwakha uhlelo lokwelapha oluhambisana nezimpawu zengane yakho. Into ebaluleke kakhulu ukunikeza ingane yakho uthando nokusekelwa ekudingayo kukho konke ukuphila kwayo, nokuqaphela noma yiziphi izimpawu ezintsha ezingase zivele. Ungakhohlwa ukuzinakekela nawe. Uma kudingeka, joyina iqembu lokusekela, noma ucele usizo kumeluleki uma uzizwa ukhungathekile.

Khumbula njengesifinyezo (Umyalezo Wokuya Ekhaya)

I-Friedreich's Ataxia (FA) iyisifo esingavamile, esizuzwe njengefa esithinta kakhulu uhlelo lwezinzwa, okubangela izinkinga zokunyakaza (ikakhulukazi i-ataxia - ukulahlekelwa yibhalansi).

• Imbangela: Ukuguquka kwezakhi zofuzo okubizwa ngokuthi ``(FXN)`` kuphumela ekunciphiseni kwephrotheni ``Frataxin``.
• Izici:Ubunzima bokuhamba, ukulahlekelwa yibhalansi, ubuthakathaka bemisipha, ubunzima bokukhuluma, isifo senhliziyo, kanye nesifo sikashukela kungase kube khona.
• Ukuxilongwa: Ngokuyinhloko ngokuhlolwa kwezakhi zofuzo.
• Ukwelashwa: Ukuphathwa kwezimpawu, ukwelashwa ngokomzimba, ukwelashwa ngenkulumo, kanye nomuthi osanda kuvunyelwa i-Omaveloxolone.
• Okubalulekile: Kubalulekile ukuxilonga lesi sifo kusenesikhathi, ukufuna ukwesekwa yithimba lezokwelapha elingochwepheshe, kanye nothando nokusekelwa ngumndeni. Kubalulekile ukungesabi, kodwa ukwenza ngokuvumelana nolwazi olunembile kanye neseluleko sezokwelapha.

I- Friedreich's Ataxia, i-FA, izifo zofuzo, isimiso sezinzwa, ukuphazamiseka kokunyakaza, i-ataxia