Ubuthakathaka beCharcot-Marie-Tooth Disease: Izimpawu, Izimbangela, & Ukwelashwa

Ubuthakathaka beCharcot-Marie-Tooth (CMT) yiqembu leemeko eziwela ezizalwa ezihlasela ama-nerve aphethiloli ezandleni nasezinzweni. La ma-nerve athatha imiyalezo phakathi kwengqondo nemisipha, akusize ukunyakaza nokubona izinto ezinjengokuthinta nobushushu.

Elibizwe ngamagama adokotela abathathu abalichaza okokuqala ngo-1886, i-CMT yiyona nto evamile elidluliselwa ngokuzalwa lesifo sezinzwa. Lithinta abantu abangaba ngu-1 ku-2,500 emhlabeni jikelele. Nakuba igama lingase lizwakale liyesabekayo, abantu abaningi abane-CMT baphila impilo egcwele, esebenzayo ngokuphathwa okuhle nokusekelwa.

Ubuthakathaka beCharcot-Marie-Tooth Disease yini?

I-CMT yenzeka lapho ama-gene abambelele ekugcineni ama-nerve aphethiloli asempilweni engasebenzi kahle. Ama-nerve akho aphethiloli afana nezikhali zombane ezihlanganisa ingqondo nomgogodla wakho nemisipha nezinzwa zezinto ezibonwayo emzimbeni wakho.

Ku-CMT, la ma-nerve kancane kancane ayonakala noma awakhulumi kahle. Lolu wonakalo luvamise ukuhlasela ama-nerve amade kakhulu kuqala, kungakho izimpawu zivame ukuqala ezinyaweni nasezandleni. Isimo siqhubeka kancane ngokuhamba kwesikhathi, futhi ubukhulu bungashintsha kakhulu kusuka kumuntu komunye.

I-CMT ayisiye isifo esisodwa kodwa yilwimi lwemiqondo ehlobene. Kunezinhlobo eziningi, i-CMT1 ne-CMT2 ezingavamile kakhulu. Uhlobo ngalunye luhlasela ama-nerve ngezindlela ezihlukile, kodwa wonke anazimpawu ezifanayo nezingqikithi zokukhula.

Ziyini izimpawu zeCharcot-Marie-Tooth Disease?

Izimpawu ze-CMT zivame ukuvela kancane kancane futhi zivame ukuqala ebuntwaneni noma ebusheni, nakuba zingase zivele kunoma iyiphi iminyaka. Abantu abaningi baqaphela okokuqala izinguquko ezinyaweni nasezinzweni zabo ngaphambi kokuthi izimpawu zithinte izandla zabo.

Nawa zimpawu ezivamile ongazihlangabezana nazo:

• Ubuthakathaka ezinyaweni nasezingceleni zezinyawo, okwenza kube nzima ukuphulukisa iminwe yakho lapho uhamba
• Ukuthuthumela noma ukuthuthumela njalo ngenxa yokwehla kwenyawo
• Ama-arches aphezulu ezinyaweni zakho noma izinyawo ezicacile
• Ama-hammertoes noma iminwe eqondile
• Ubuthakathaka bemisipha ezinyaweni zakho eziphansi, okwenza ukubonakala “kwenyawo lenyoni”
• Ukungazizwa noma ukunciphisa ukuzwa ezinyaweni nasezandleni
• Ubunzima ngemisebenzi emincane yemoto njengokubopha izingubo noma ukubhala
• Ukubamba kwemisipha, ikakhulukazi ezinyaweni
• Izandla nezinyawo ezibandayo ngenxa yokungabi kahle kokujikeleza kwegazi

Njengoba isimo siqhubeka, ungase futhi uqaphele ubuthakathaka ezandleni nasezandleni. Abanye abantu bathuthukisa iphethini yokugibela ehlukile ebizwa ngokuthi “i-steppage gait,” lapho baphakamisa amadolo abo phezulu kunokujwayelekile ukuze bagweme ukubamba iminwe yabo phansi.

Kubalulekile ukukhumbula ukuthi i-CMT ibathinta bonke ngezindlela ezahlukene. Abanye abantu banezimpawu ezilula ezingathinti kakhulu impilo yabo yansuku zonke, kanti abanye bangadinga izinto zokusiza njengezibopho noma izinto zokusiza ekuhambeni. Ukuqhubeka kuvame ukuba kancane futhi kuqikelelwa, okusisiza ngokuhlela nokuphathwa.

Imiphi Imikhakha Yesifo SeCharcot-Marie-Tooth?

I-CMT ihlelwe ngezinhlobo eziningi eziyinhloko ngokusekelwe endleleni umonakalo wezinzwa oqhamuka ngayo kanye nezinhlobo ze-jini ezihilelekile. Ukuqonda uhlobo lwakho oluthile kungasiza ekuqondiseni izinqumo zokwelashwa futhi kukunikeze umbono omuhle wokulindela.

Izinhlobo ezimbili ezivame kakhulu yi:

I-CMT1 ithonya i-myelin sheath, okuyisikhumba esivikelayo esizungezile imicu yezinzwa. Cabanga ngakho njengokuhlanganiswa okusembozini yentambo yombane. Uma le mbobo yonakele, izibonakaliso zezinzwa zihamba kancane kakhulu. I-CMT1 ivame ukubangela izimpawu ezinzima futhi imelela cishe u-60% lazo zonke izimo ze-CMT.

CMT2 yonakalisa ngqo i-fiber yethu yezinzwa (ebizwa ngokuthi i-axon) kunokuba yi-coating eyivikayo. Lo mfanekiso ngokuvamile uqala kamuva futhi ungase uqhubeke kancane kunokuba yi-CMT1. Abantu abane-CMT2 bavame ukugcina inyama eningi ezinzwaneni zabo ezisezinyaweni.

Izinhlobo ezingavamile zihlanganisa:

• CMT3 (ebizwa nangokuthi i-Dejerine-Sottas disease), uhlobo olukhulu oluqala ebuntwaneni
• CMT4, ehlanganisa izinhlobo eziningi ezingavamile ezingabangela ezinye izimpawu
• CMTX, uhlobo oluhambisana ne-X oluthinta amadoda kakhulu kunabesifazane

Uhlobo ngalunye lunomsuka walo oluhlukile oluvela ekuhlukaniseni kwamajini kanye nesakhiwo sokuzuza. Udokotela wakho angakusiza ukuthi ubone ukuthi yiluphi uhlobo olukuyo ngokuhlola i-genetic, okungaba yilutho oluwusizo ekucwaningweni komndeni nasekukuqondeni isimo sakho.

Yini ebangela i-Charcot-Marie-Tooth Disease?

I-CMT ibangelwa ukuguqulwa kwamajini abalulekile ekusebenzeni nasekulondolozeni kwezinzwa ezingaphandle. Lezi zinguquko ze-genetic ziyaphula ikhono lezinzwa lokudlulisa izibonakaliso ngokuphumelelayo noma ukugcina ubukhulu balo ngokuhamba kwesikhathi.

Amajini angaphezu kuka-40 ahlanganiswe nezinhlobo ezahlukene ze-CMT. Amajini athinteka kakhulu ahlanganisa i-PMP22, i-MPZ, ne-GJB1, kepha amaningi angabangela le simo. Ijini ngalinye lisebenza indima ethile ekusebenzeni kwezinzwa, kungakho ukuguqulwa okuhlukene kungabangela izimpawu ezihlukene kancane.

Okwenza i-CMT ibe nzima kakhulu ukuthi ngisho nasemhlabeni omkhulu, abantu abane-mutation efanayo ye-genetic bangaba namava ahlukene kakhulu nesifo. Abanye bangaba nezimpawu ezilula, kanti abanye bathinteka kakhulu. Ososayensi basafuna ukuqonda ukuthi kungani le nto ihlukahlukene.

Ukuguqulwa kwe-genetic okubangela i-CMT kuthinta amaprotheni abalulekile empilweni yezinzwa. Amaprotheni amanye asiza ekugcineni i-myelin sheath, amanye asekele i-fiber yezinzwa ngokwayo, kanti amanye ahilelekile ekukhiqizweni kwamandla ezinzwa noma izinhlelo zokuthutha.

Nini Okufanele Ubone Udokotela Ngesifo SeCharcot-Marie-Tooth?

Kufanele ucabange ukuya kudokotela uma ubona ubuthakathaka obuhlala njalo ezinyaweni zakho noma ezandleni, ikakhulukazi uma buthinta imisebenzi yakho yansuku zonke. Ukubheka kwasekuqaleni kungasiza ekutholeni imbangela nokuqala amasu afanele okuphatha.

Nazi izimpawu ezithile ezidinga ukunakekelwa kwezokwelapha:

• Ukuthanda ukuthuthumela noma ukuwa, ikakhulukazi uma kuya kakhulu
• Ubunzima bokuqopha iminwe yakho lapho uhamba noma ukuthambekela ekuthinteni izinyawo zakho
• Ubuthakathaka obuqhubekayo ezandleni zakho okwenza imisebenzi efana nokubhala noma ukubamba kube nzima
• Ukungazizwa noma ukukhahlela ezandleni noma ezinyaweni okungapheli
• Ukushintsha kwendlela izinyawo zakho eziqoshwe ngayo, njengokuthuthukisa ama-arches aphezulu
• Ukukhahlela kwemisipha noma ubuhlungu ezinyaweni zakho okuvimba ukulala noma umsebenzi
• Umlando womndeni wezimpawu ezifanayo kubazali noma abafowabo

Ungalindi uma ubona ukuqhubeka okusheshayo kwezimpawu noma uma ubuthakathaka buthinta kakhulu ikhono lakho lokusebenza noma ukujabulela imisebenzi. Nakuba i-CMT ivame ukuqhubeka kancane, ezinye izinhlobo zingathuthuka ngokushesha, futhi ukungenelela kwasekuqaleni kungenza umehluko obalulekile ezingeni lakho lokuphila.

Uma unomlando womndeni we-CMT, ukwelulekwa ngokuzalwa kungakusiza ukuqonda ingozi yakho nezinketho zakho, ngisho noma awunazo izimpawu okwamanje.

Ziyini Izimbangela Zengozi Zesifo SeCharcot-Marie-Tooth?

Imbangela eyinhloko ye-CMT ukuba nomlando womndeni wesimo, njengoba kuyisifo esidluliselwa ngezizukulwane. Noma kunjalo, izindlela zokudluliselwa zingaba yinkimbinkimbi, futhi ukuziqonda kungakusiza ukulinganisela ingozi yakho noma ingozi kubantwana bakho.

Izimbangela eziyinhloko zengozi zihlanganisa:

• Ukuba unembele yomzali onale CMT (indlela evamile kakhulu yokudluliselwa kwezinto ezihlukanisayo)
• Ukuba unezodwa noma amalungu omndeni ane-CMT
• Ukuba uyindoda (ngezinhlobo ezihambisana ne-X njenge-CMTX)
• Ukuba abazali bakho bayizithwali ze-jeni ze-CMT ezilahlekileyo

Izinhlobo eziningi ze-CMT zilandela iphethini yokudluliselwa kwezinto ezihlukanisayo eziqondene ne-autosomal, okusho ukuthi udinga ikhophi elilodwa nje le-jeni eguqukileyo kunoma yimuphi umzali ukuze uthole le simo. Uma omunye umzali enale CMT, umntwana ngamunye unethuba elingu-50% lokuba ayithole.

Ezinye izinhlobo ezingavamile zilandela ama-phethini e-autosomal recessive, lapho bobabili abazali kufanele babe nezinto ezihlukanisayo ukuze umntwana athinteke. Kulezi zimo, abazali abaphethe izinto ezihlukanisayo ngokuvamile abanawo ama-symptom.

Kubalulekile ukuqaphela ukuthi cishe i-10% yezimo ze-CMT zenzeka ngenxa ye-mutations ezintsha, okusho ukuthi zingabonakala emindenini engenalo umlando wangaphambili wesimo. Lokhu kubizwa ngokuthi yi-de novo mutation, futhi nakuba kungavamile, kuyinqubo yemvelo yokuguquguquka kwe-genetic.

Ziyini Izingozi Ezingase Zenzeke Ngokwesifo seCharcot-Marie-Tooth?

Nakuba i-CMT ngokuvamile ingabulali, ingabangela ubunzima obuthinta ukunyakaza kwakho kanye nokuphuza kwakho impilo. Ukwazi ngalezi zinkinga ezingase zenzeke kungakusiza wena neqembu lakho lokunakekelwa kwezempilo ukuba nithathe izinyathelo zokuvikela.

Ubunzima obuvamile kakhulu ongabhekana nabo buhlanganisa:

• Ukuphambuka kwezinyawo njenge-high arches, i-hammertoes, noma izinyawo ezicacile
• Ukungena engozini enkulu yokuweleka ngenxa yokuhluleka kwemisipha nezingqinamba zokulinganisela
• Ubuhlungu obuhlala njalo ezinyaweni, emilenzeni, noma ezandleni
• Ubunzima ngamakhono amahle okuhambisa izinto obuthinta umsebenzi noma imisebenzi yansuku zonke
• Ukukhathala ngenxa yomzamo owengeziwe odingekayo ukuze unyakazise
• Izinkinga zesikhumba ezinyaweni zakho ngenxa yokuncane kokuzwa
• Izinkinga zamajoyinti ezivela ezindleleni zokuhamba eziguqukile

Ubunzima obungavamile kodwa obukhulu kakhulu bungabandakanya:

• I-scoliosis ehlisa kakhulu (ukugoba komgogodla) ezinhlotsheni ezithile ezingavamile
• Ubunzima bokuqeda umoya uma isimo sihilela imisipha yokuqeda umoya
• Ukulahlekelwa ukuzwa kwezinye izinhlobo ze-CMT
• I-hip dysplasia ezigabeni ezinzima eziqala ebuntwaneni

Izindaba ezinhle ukuthi iningi lezingxaki lingaphathwa kahle ngokunakekelwa okufanele. Ukuqapha njalo yiqembu lakho lokunakekela impilo, ukusetshenziswa okufanele kwamabhande noma amadivayisi okusiza, nokusebenza ngaphakathi kwemingcele yakho kungasiza ukuvimba noma ukunciphisa izinkinga eziningi.

Ungayivimba kanjani i-Charcot-Marie-Tooth Disease?

Njengoba i-CMT isimo sezakhiwo, ayikwazi ukuvinjwa ngendlela evamile. Kodwa-ke, uma unemlando womndeni we-CMT noma uhlela ukuba nezingane, ukwelulekwa ngezakhiwo kungakusiza ukuqonda izinketho zakho nokwenza izinqumo ezisekelwe olwazini.

Ukubonisana ngezakhiwo kungakunikeza ulwazi oluyigugu mayelana nokuthi:

• Ubungozi bakho bokuthuthukisa i-CMT uma unemlando womndeni
• Amathuba okuhambisa i-CMT kubantwana bakho
• Izinketho zokuhlolwa kwezakhiwo ezitholakalayo
• Izinketho zokuzala uma ukhathazekile ngokuhambisa isimo
• Amathuba okuhlolwa kwangaphambi kokubeletha

Uma usuvele une-CMT, ungathatha izinyathelo zokuvimbela izingxaki nokugcina ikhwalithi yokuphila kwakho. Lokhu kuhlanganisa ukuhlala usebenza ngokomzimba ngaphakathi kwamandla akho, ukusebenzisa amadivayisi okusiza afanele, nokusebenzisana nochwepheshe bezempilo ukulawula izimpawu zakho.

Ukungenelela kwasekuqaleni nokuphathwa okufanele kunganciphisa kakhulu intuthuko yezingxaki, ngisho noma zingakwazi ukuvimba isimo sezakhiwo esiyisisekelo.

I-Charcot-Marie-Tooth Disease ihlonishwa kanjani?

Ukuhlola i-CMT kuhilela izinyathelo eziningana, kuqale ngokuhlolwa okuphelele kwezimpawu zakho nembali yomndeni. Udokotela wakho uzofuna ukuqonda ukuthi izimpawu zakho zaqala nini, indlela eziqhubekile ngayo, nokuthi kukhona yini umuntu emndenini wakho onezinkinga ezifanayo.

Inkqubo yokuxilonga ivame ukufaka:

Ukuhlolwa komzimba: Udokotela wakho uzohlola amandla emisipha yakho, ama-reflexes, kanye nokuzwa. Bazogxila kakhulu ezinyaweni nasezandleni zakho, befuna izimpawu ezibonakalayo njengokulahleka kwemisipha, ukuphambuka kwezinyawo, noma ukunciphisa ama-reflexes.

Izifundo zokuphequlula kwezinzwa: Lezi zivivinyo zilinganisa ukuthi izinzwa zakho zithumela kanjani ngokushesha nangokuphumelelayo izibonakaliso zombane. Ama-electrodes abekwa ehlathini lakho, futhi ama-pulses amancane ombane asebenziswa ukukhuthaza izinzwa zakho. Lo mvivinyo ungasiza ekuqondeni ukuthi yiluphi uhlobo lwe-CMT ongalunayo.

I-Electromyography (EMG): Lo mvivinyo uqapha umsebenzi wombane kwemisipha yakho. I-electrode encane yensimbi ifakwa emsopha wakho ukuqopha umsebenzi wayo wombane kokubili ekuphumuleni nasekuqinisweni.

Ukuhlolwa kwe-genetic: Izivivinyo zegazi zingabonisa ukuguqulwa okuthile kwe-genetic okubangela i-CMT. Lokhu kuvame ukuba yindlela eqinisekile kakhulu yokuxilonga isimo nokuqonda ukuthi yiluphi uhlobo olunalo.

Kwezinye izimo, udokotela wakho angase futhi akukhuthaze ukwenza i-biopsy yesintha, lapho izingcezu ezincane zethusi lesintha zisuswa futhi ziqoshwe ngaphansi komkhiqizo. Noma kunjalo, lokhu akuseyona into evamile manje njengoba ukuhlolwa kwe-genetic kutholakala kabanzi.

Inkqubo yonke yokuxilonga ingathatha amasonto ambalwa noma izinyanga, ikakhulukazi uma ukuhlolwa kwe-genetic kuhilelekile. Udokotela wakho angaqala ngezimbangela ezivamile ze-genetic bese esebenza ngezinye izinto ezingavamile uma kudingeka.

Iyini Ukwelashwa KwesiFo SeCharcot-Marie-Tooth?

Nakuba okwamanje kungekho ukwelashwa kwe-CMT, kunezindlela eziningi zokwelapha ezisebenza kahle ezingasiza ekulawuleni izimpawu zakho nokugcina ikhwalithi yokuphila kwakho. Umgomo wokwelapha ukukugcina ukhuthele futhi uzimele ngangokunokwenzeka ngenkathi uvikela izinkinga.

Uhlelo lwakho lokwelapha luzohlanganisa izindlela eziningi:

Ukuphathwa komzimba kuvame ukuba yisisekelo sokuphathwa kwe-CMT. Umphenguli womzimba angakufundisa ukuzivocavoca ukuze ugcine amandla emisipha, uthuthukise ibhalansi, futhi uvikele ukubopha kwamagciwane. Bayakusiza futhi ufunde izindlela zokunyakaza eziphephile futhi bancoma amadivayisi okusizakala afanele.

Ukuphathwa komsebenzi kugxile ekusikweni ukuthi ugcine ukuzimela emisebenzini yansuku zonke. Umphenguli womsebenzi angancoma amathuluzi nobuchwepheshe obuguquliwe emisebenzini efana nokuqokoba, ukupheka, nokusebenza. Bangase bancome izitsha ezikhethekile, ama-button hooks, noma amanye amadivayisi ukuze kwenziwe kube lula imisebenzi yansuku zonke.

Amadivayisi e-Orthotic afana ne-ankle-foot orthoses (AFOs) angasiza ekusekeleni imisipha ebuthakathaka nokuthuthukisa ukuhamba kwakho. Lezi zihlalo zingavimbela ukwehla kwenyawo futhi zinciphisa ingozi yokuwa. Ama-orthotics akhiwe ngokwezifiso angasiza futhi ngezinkinga zeenyawo futhi anikeze ukwesekwa okungcono.

Imithi ingase ilotshwe ukuze ilawule izimpawu ezithile. Imithi yokunciphisa ubuhlungu ingasiza ngebuhlungu be-neuropathic, kuyilapho abakhululi bemisipha bangase babe usizo ngezinhlungu. Kodwa-ke, eminye imithi evame ukusetshenziswa kwezinye izimo kufanele igwenywe ku-CMT, njengoba ingenza ukubhubhisa kwama-nerve kube kubi nakakhulu.

Ukuhlinzwa kungase kunconywe ngezinkinga zeenyawo ezinzima noma ezinye izinkinga. Izindlela zingafaka ukudluliselwa kwamagciwane, ukuxuba kwama-joint, noma ukulungiswa kwezinkinga emathanjeni. Nakuba ukuhlinzwa kungenakuyelapha i-CMT, kungathuthukisa kakhulu umsebenzi nokududuzeka ezimweni ezithile.

Ukuthatha Kanjani Ukwelashwa Ekhaya Ngesifo Se-Charcot-Marie-Tooth?

Ukuphatha i-CMT ekhaya kuhilela ukwakha indawo yokusekela nokukhulisa amasiko ansuku zonke asebenza ngamakhono akho kunokuba alwe nawo. Izinguquko ezincane zingenza umehluko omkhulu ekududuzeni nasekuphepheni kwakho.

Nazi izinyathelo ezisebenzayo ongazithatha ekhaya:

Zivoca ngokujwayelekile ngaphakathi kwamandla akho. Imisebenzi engathinti kakhulu njengokubhukuda, ukujika ibhayisikili, noma ukuhamba ingasiza ekuqondiseni amandla emisipha nempilo yomoya. Gwema imisebenzi ehluphekayo kakhulu engase ikhulise ingozi yokuwa noma ukulimala.

Gcina ukunakekelwa okuhle kwezinyawo ngokuhlola izinyawo zakho nsuku zonke ukuze ubone ukuthi kukhona yini iziqongo, amabhilisa, noma ezinye izilonda. Njengoba umuzwa ungase ube mncane, ungase ungazizwa izilonda ezincane ezingaba nzima uma zingaphathwa. Gcina izinyawo zakho zicocekile futhi zomile, bese ugqoka izicathulo ezifanele.

Yenza ikhaya lakho libe liphephile ngokususa izinto ezingase zibangele ukuwela njengezikhwama eziqhekekile noma amakhebuli ombane. Faka izandla ezitezi nasemakamelweni okugeza. Ukukhanya okuhle ekhaya lonke kubalulekile, ikakhulukazi ezindaweni ezihamba ngazo nasezitezi.

Sebenzisa amadivayisi okusiza njengoba kunconywe yiqembu lakho lokunakekelwa kwezempilo. Lokhu kungafaka izinti, izinto zokuhamba, noma amathuluzi akhethekile emisebenzini yansuku zonke. Ungabheki lokhu njengokulinganiselwa, kodwa kunjengamathuluzi akusiza ukuthi uhlale usebenza futhi uzimele.

Phatha ukukhathala ngokuzinika isikhathi sonke usuku. Hlela imisebenzi enzima ngezikhathi lapho unemandla amaningi, futhi ungangabazi ukuthatha ikhefu uma kudingeka. Ukukhathala kuyisigxobo esivamile nesifanele se-CMT.

Hlala uxhumene namaqembu wokusekela noma imiphakathi eku-inthanethi yabantu abane-CMT. Ukubambisana okuhlangenwe nakho nezeluleko nabanye abantu abaqonda inselele yakho kungaba yigugu kakhulu kokubili ngeseluleko eliwusizo kanye nokusekelwa ngokomzwelo.

Kufanele Uzilungiselele Kanjani Ukuya Kudoctor?

Ukulungiselela ukuya kudokotela kungakusiza uqinisekise ukuthi uthola okuningi kakhulu ekuhambeleni kwakho futhi uthole ukunakekelwa okuhle kakhulu. Ukuba uhlelile futhi ucabanga ngalokho ofuna ukukuxoxa ngakho kuzosiza iqembu lakho lokunakekelwa kwezempilo liqonde kangcono izidingo zakho.

Ngaphambi kokubuka kwakho, buza ulwazi olubalulekile:

• Bhala zonke izimpawu zakho, kufaka phakathi ukuthi zaqala nini nokuthi zishintshe kanjani
• Bala wonke amayeza kanye nezinhlanganisela ozithathayo
• Letha noma yimiphi imiphumela yokuhlolwa yangaphambili noma amarekhodi ezempilo
• Lungiselela umlando womndeni, ikakhulukazi uqaphele noma yimiphi izihlobo ezinezimpawu ezifanayo
• Bhala imibuzo ofuna ukuyibuza

Cabanga ngendlela izimpawu zakho ezikuthinta ngayo impilo yakho yansuku zonke. Chaza ngokucacile ngemisebenzi ebe nzima noma engenakwenzeka. Ulwazi lolu lusiza udokotela wakho ukuthi aqonde umthelela wangempela wesimo sakho futhi alungiselele izincomo zokwelashwa ngokufanele.

Cabanga ngokuletha ilungu lomndeni noma umngani ekuqokweni kwakho. Bangakusiza ukuba ukhumbule ulwazi futhi banikeze ukwesekwa ngesikhathi soxoxa ngesimo sakho. Ngezinye izikhathi, amalungu omndeni aphawula izinguquko ongaqapheli.

Ungangabazi ukubuza imibuzo ngesikhathi sokuqokwa kwakho. Eminye imibuzo ebalulekile ingafaka: Ngiluhlobo luni lwe-CMT enalona? Kusheshisa kangakanani ukukhula? Ziyiphi izindlela zokwelapha ezitholakalayo? Ingabe kunemisebenzi engingayigwema? Yiziphi izimpawu zokuqapha engingazibheka?

Iyini i-Key Takeaway Ngokuphathelene Ne-Charcot-Marie-Tooth Disease?

Into ebaluleke kakhulu okumele uyiqonde nge-CMT ukuthi ngenkathi kuyisimo esikhula kancane kancane, futhi ilawuleka kakhulu ngendlela efanele kanye nokusekelwa. Abantu abaningi abane-CMT baphila impilo egcwele, esebenzayo, belandela imisebenzi, izinto abazithandayo, nobudlelwano njenganoma ubani omunye.

Ukuxilongwa kwasekuqaleni nokuphathwa okuhle kungenza umehluko omkhulu emiphumeleni yakho yesikhathi eside. Ukusebenza neqembu lokunakekelwa kwezempilo eliqonda i-CMT, ukuhlala usebenza ngokomzimba ngokusemandleni akho, nokusebenzisa amadivayisi okusiza afanele uma kudingeka kungakusiza ukuba ugcine ukuzimela nekwalithi yempilo.

Khumbula ukuthi i-CMT ibathinta ngezindlela ezahlukene abantu. Isipiliyoni sakho nesimo singase sihluke kakhulu kunabanye, ngisho nasemhlabeni wakho. Gxila ohambweni lwakho futhi yini esebenza kangcono kuwe, kunokuzifanisa nabanye.

Umphakathi we-CMT unamandla futhi usekela, ngezinsiza ezinhle ezitholakala ezinhlanganweni ezifana ne-Charcot-Marie-Tooth Association. Awuwedwa kulolu hambo, futhi kukhona ucwaningo oluqhubekayo olusebenza ekutholeni ukwelashwa okuhle kakhulu futhi ekugcineni ukwelapha.

Imibuzo Evame Ukubuzwa Mayelana Nesifo Se-Charcot-Marie-Tooth

UMbuzo 1: Ingabe abantwana bami bazokuthola ngokuqinisekile i-CMT uma nginayo?

Akuyona into eqinisekile. Izinhlobo eziningi ze-CMT zinethuba elilinganiselwe ku-50% lokudluliselwa kumntwana ngamunye, kodwa lokhu kusho ukuthi kukhona nethuba elilinganiselwe ku-50% lokuthi ngeke bawuthole. Ukuqondisa ngokuzalwa kungakusiza ukuqonda izingozi ezithile ngokuya ngohlobo lwakho lwe-CMT nomlando womndeni wakho. Abanye abantu bakhetha ukuhlolwa kwe-genetic ngesikhathi sokukhulelwa, kanti abanye bakhetha ukulinda nokuqaphela. Isinqumo siyimfihlo kakhulu futhi ayikho indlela efanele noma engalungile.

UMbuzo 2: Ingabe i-CMT ingelashwa noma izoqhubeka ibi?

Okwamanje, ayikho impilo ye-CMT, kodwa abacwaningi basebenza ezindleleni eziningi ezithembisayo zokwelapha. Ngenkathi i-CMT ivame ukuba yinto eya phambili, ukuqhubeka kuvame ukuba kuhamba kancane futhi kuphatheka. Abantu abaningi bathola ukuthi ngokwelashwa okuhle kanye nokulungiswa kokuphila, bangagcina ikhwalithi enhle yokuphila iminyaka eminingi. Isifuba ukusebenza neqembu lakho lokuphatha impilo ukuze ube phambili kunazo zonke izimpawu nezinhlungu.

UMbuzo 3: Kuphephile yini kimi ukuzivocavoca nge-CMT?

Yebo, ukuzivocavoca kuzuzisa kakhulu abantu abane-CMT, kodwa kubalulekile ukukhetha izinhlobo ezifanele zezinto zokwenza. Ukuzivocavoca okungathinti kakhulu njengokubhukuda, ukugeja, nokuhamba kuyizinqumo ezinhle kakhulu. Gwema imisebenzi ethinta kakhulu noma lezo ezandisa kakhulu ingozi yokuwa kwakho. Uchwepheshe wakho wezokwelapha angakusiza ukwakha uhlelo lokuzivocavoca oluphephile futhi oluphumelelayo esimweni sakho esithile.

UMbuzo 4: Ingabe kunemithi engingayigwema nge-CMT?

Yebo, imithi ethile ingalimaza ukulimala kwama-nerve kubantu abane-CMT. Lokhu kuhlanganisa ezinye izidakamizwa ze-chemotherapy, ama-antibiotic athile, nezinye izidakamizwa ezisetshenziswa ezinkingeni zokubetha kwenhliziyo. Njalo tshela odokotela bakho nabathengisi bemithi ukuthi une-CMT ngaphambi kokuthatha noma iyiphi imithi entsha, kufaka phakathi imithi yokuthengwa ngaphandle kwesikripthi kanye nezinye izinto zokuthuthukisa impilo.

UMbuzo 5: Ngingazi kanjani ukuthi izimpawu zami ziyaqina noma uma ngidinga ukubona udokotela wami?

Xhumana nodokotela wakho uma uqaphela ukushintsha okusheshayo emandleni akho, izindawo ezintsha zobunqam, ukwanda okungazelelwe kobuhlungu, noma uma uwa kaningi. Futhi xhumana nabo uma unesinkinga nemisebenzi owayukwazi ukuyenza ngaphambili, noma uma uthola izimpawu ezintsha njengokuphefumula okunzima noma ukukhathala okukhulu. Ukuhlola okuvamile kubalulekile, kodwa ungalindi isikhathi sokuqokwa uma ukhathazekile ngokushintsha esimweni sakho.