Ngaba ngequbuliso ukhe waqala ukuziva ubuthathaka okanye ukurhawuzelela emilenzeni yakho? Ngaba uhlala ulahlekelwa yibhalansi yakho kwaye uwe xa uhamba? Usenokubona utshintsho oluthile kwimo yeenyawo zakho. Musa ukuyityeshela le nto njengokudinwa okuqhelekileyo. Kuba ezi zisenokuba ziimpawu zesifo esithile segazi esibizwa ngokuba yiCharcot-Marie-Tooth (CMT). Nangona eli gama liyinkimbinkimbi kancinci, akukho nto yokoyika. Namhlanje, masithethe ngesi sifo, iimpawu zaso, kunye nento enokwenziwa ngaso ngendlela elula neyobuhlobo.
Yintoni isifo seCharcot-Marie-Tooth (CMT)?
Ngamafutshane, i-CMT yimeko echaphazela imithambo-luvo engaphandle kwengqondo yethu kunye nomqolo . Le mithambo-luvo siyibiza ngokuba yimithambo-luvo engaphandle. Le mithambo-luvo ithwala imiyalezo esuka engqondweni yethu iye kwimilenze yethu kwaye izisa iimvakalelo (ubushushu, umkhuhlane, iintlungu) ezivela kwimilenze yethu zibuyele engqondweni. Kwi-CMT, le mithambo-luvo yonakele.
Eli gama lingaqhelekanga livela kumagama oogqirha abathathu abafumanisa esi sifo okokuqala ngo-1886 (uJean-Martin Charcot, uPierre Marie, kunye noHoward Henry Tooth). Sikwabizwa ngokuba yi-`(i-hereditary motor and sensory neuropathy)` kunye ne-`(peroneal muscular atrophy)`. Esi asisosifo sinye, kodwa liqela lezifo ezibangelwa zizinto zemfuza. Okwangoku, iintlobo ezingaphezu kwama-90 ze-CMT zichongiwe.
Eyona nto ibalulekileyo kukuba esi ayisosifo sisasazekayo. Oko kuthetha ukuba asinakusasazeka ukusuka komnye umntu ukuya komnye ngokuthimla okanye ngokuchukumisa.
Yintoni ebangela isifo se-CMT?
Esi sifo sibangelwa kukuguquka kwezakhi zofuzo kwiijini zethu . Le yinto edluliselwa kumzali ukuya emntwaneni. Cinga ngenkqubo yethu yemithambo-luvo njengothungelwano lweengcingo zefowuni. Ingqondo yeyona ndawo iphambili. Ukusuka apho, ithumela imiyalezo kwizihlunu ezingalweni nasemilenzeni yethu ukuze "zolulwe" kwaye "zolulwe." Okwenzekayo kwi-CMT kukuba ezi ngcingo zefowuni, okanye imithambo-luvo, azisebenzi kakuhle.
Esi siphene semfuza sithintela imithambo-luvo ekudluliseni imiyalezo ngokuchanekileyo nangokukhawuleza. Ekuhambeni kwexesha, le mithambo-luvo iyancipha kancinci kancinci, yonakale, kwaye inokuphela. Kulapho kuvela khona iimpawu ezifana nobuthathaka bemisipha kunye nokulahlekelwa yimvakalelo.
Ziziphi iimpawu eziqhelekileyo zesi sifo?
Iimpawu ze-CMT zihlala ziqala ukubonakala ebuntwaneni okanye ebusheni . Ezi mpawu ziqala ukubonakala ezinyaweni nasemilenzeni.
| Uphawu | Ingcaciso elula |
|---|---|
| Utshintsho kwimilo yeenyawo | Umphezulu wonyawo ugobile ngokungeyomfuneko. Kwakhona, iinzwane zigobile embindini, zenze imo yesando. Oku sikubiza ngokuba yi "hammertoes". Oku kwenza kube nzima ukuhamba, kwaye kunokubangela izilonda, amadyungudyungu, kunye nokuqina xa unxibe izihlangu. |
| Ubunzima bokuhamba | Kuba nzima ukuphakamisa unyawo emhlabeni xa uhamba. Oku kubizwa ngokuba yi-"foot drop." Oku kubangela ukuba unyawo lurhuqeke emhlabeni, okanye kufuneka uhambe "ngokuqhwaba". |
| Ubuthathaka bemisipha | Ekuhambeni kwexesha, izihlunu, ingakumbi kwimilenze engezantsi, ziyabhitya kwaye zibe buthathaka. |
| Ukulahlekelwa ziingxaki zokuziva kunye nokulinganisela | Kusenokubakho ukurhawuzelela okanye ukuba ndindisholo ezinyaweni nasezizandleni. Kuba nzima ukugcina ulungelelwano emzimbeni. |
Njengoko isifo siqhubeka, ezi mpawu zinokuchaphazela nezihlunu zezandla neengalo. Nangona kunjalo, abantu abanesi sifo banokuphila ubomi obude nobupheleleyo .
Ugqirha uluchonga njani ngokuchanekileyo olu sifo?
Ukuba wena okanye umntwana wakho ninezi mpawu, eyona nto ingcono kukubonana nogqirha . Ugqirha wakho angakuthumela kwingcali yezifo zengqondo, ugqirha ogxile kwinkqubo yemithambo-luvo.
Benza iimvavanyo ezininzi ukuze bafumanise isifo, ezifana nezi:
- Imbali yezonyango yosapho : Buza ukuba kukho umntu kusapho lwakho okhe waba nezi mpawu.
- Uvavanyo lomzimba:Benza uvavanyo olufana ne-reflex yedolo, equka ukubethela idolo ngesando esincinci. Ezi reflexes zibuthathaka kakhulu kubantu abane-CMT. Bakwavavanya ubuthathaka bemisipha ngokubacela ukuba bahambe ngeenyawo zabo.
- Uvavanyo lweVelocity yeNerve Conduction: Oku kuquka ukuncamathisela ii-electrode ezincinci eluswini kunye nokuthumela umbane omncinci kakhulu ukulinganisa ukuba imithambo-luvo ithumela imiyalezo ngokukhawuleza kangakanani. Esi santya sicotha kwizigulana ze-CMT.
- I-Electromyography (EMG): Inaliti encinci kakhulu ifakwa kwisihlunu kwaye umsebenzi wombane wesihlunu ulinganiswa ngelixa usenza isenzo, njengokugoba inqindi lakho.
- Uvavanyo lwe-DNA: Kuthathwa isampulu yegazi ukujonga iziphene zemfuza ezibangela i-CMT. Nangona kunjalo, ukuba uvavanyo alufumani siphene akuthethi ukuba i-CMT ayikho, kuba ayizizo zonke ii-gene ezibangela esi sifo ezichongiweyo.
Ziziphi iindlela zonyango ze-CMT?
Ngelishwa, akukho nyango lwe-CMT okwangoku . Nangona kunjalo, kukho unyango oluninzi olunokunceda ukulawula iimpawu kunye nokuphila ubomi obulungileyo.
Eyona nto ibalulekileyo kukulawula esi sifo. Kukho iindlela ezahlukeneyo zokwenza oku.
- Unyango Lomzimba: Oku kubaluleke kakhulu. Ukuqinisa izihlunu kunye nokuzilula kwenziwa phantsi kwesikhokelo sogqirha wezonyango. Uqheliso olungafaki ubunzima kumalungu, njengokudada kunye nokukhwela ibhayisekile, lulungile kakhulu. Kubaluleke kakhulu ukuqala olu nyango kwasekuqaleni , ngaphambi kokuba izihlunu zibe buthathaka.
- Unyango Lomsebenzi: Olu nyango lunceda xa isifo sichaphazela izandla kwaye lwenza kube nzima ukwenza imisebenzi yemihla ngemihla (ukutya, ukunxiba). Lufundisa izakhono zokuqinisa ukubamba nokwenza izinto zibe lula.
- Izixhobo Zokuncedisa: Izibambo zemilenze kunye nezihlangu ezenziwe ngokwezifiso zinokwenza ukuhamba kube lula kwaye zinike inkxaso engcono emzimbeni.
- Amayeza: Iipilisi zokunciphisa iintlungu kunye namanye amayeza afumanekayo kwizinto ezifana neentlungu zemisipha kunye nentlungu yemithambo-luvo. Kufuneka uthethe nogqirha wakho ngale nto uze ukhethe efanelekileyo.
- Utyando: Kwezinye iimeko, utyando lunokucetyiswa ukulungisa iziphene ezinzima kunye neengxaki zamalungu ezinyaweni. Nangona kunjalo, utyando alunakukulungisa umonakalo wemithambo-luvo.
Ngaba esi sifo singabangela ezinye iingxaki?
Ewe, i-CMT ngamanye amaxesha inokubangela ezinye iingxaki zempilo.
- Ubunzima bokuphefumla nokuginya: Oku kunqabile kancinci. Kodwa ukuba izihlunu ezilawula i-diaphragm ziyachaphazeleka, unokuba nobunzima bokuphefumla rhoqo. Ukuba oku kuyenzeka, bona ugqirha ngokukhawuleza. Kungaba yingxamiseko.
- Usulelo: Kuba iinyawo azinamvakalelo ingako, ngamanye amaxesha nemikrwelo emincinci kunye namanxeba awabonakali. Ukuba la manxeba awanyangwa kakuhle, anokosulelwa. Kungoko ke, kubaluleke kakhulu ukujonga iinyawo zakho rhoqo kwaye uzigcine zicocekile .
- I-Hip Dysplasia: Ukuba i-hip joint ayibekwanga kakuhle, i-CMT ingayenza imeko ibe mandundu.
- Iingozi ngexesha lokukhulelwa: Abafazi abane-CMT banomngcipheko ophezulu kancinci wokufumana iingxaki ezithile ngexesha lokukhulelwa.
Umyalezo Wokuya Ekhaya
- I-Charcot-Marie-Tooth (CMT) sisifo se-neurological esifunyanwa ngabazali. Asisosuleli.
- Iimpawu eziphambili kukuncipha kancinci kancinci kwemisipha, ikakhulu emilenzeni nasezinyaweni, ubunzima bokuhamba, kunye nokulahlekelwa zimvakalelo.
- Nangona ingenakunyangwa ngokupheleleyo, ngonyango lomzimba, izixhobo zokuncedisa, kunye nolawulo olufanelekileyo, ubomi obuhle kakhulu nobupheleleyo bunokuphilwa.
- Ukuba unale mpawu, ungoyiki okanye ulibazise, bona ugqirha uze ufumane uxilongo olufanelekileyo.
- Kubaluleke kakhulu ukunyamekela iinyawo zakho, uzicoce rhoqo kwaye ujonge ukuba azinazo na izinto ezonzakeleyo.
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