Ingabe uke waqala ngokuzumayo ukuzizwa ubuthakathaka noma ukuqaqamba emilenzeni yakho? Ingabe uvame ukulahlekelwa ibhalansi yakho bese uyawa lapho uhamba? Ungase futhi uqaphele izinguquko ezithile esimweni sezinyawo zakho. Ungazinaki lezi zinto njengokukhathala okuvamile. Ngoba lezi zingase zibe izimpawu zesimo esithile sezinzwa zofuzo esibizwa ngokuthi iCharcot-Marie-Tooth (CMT). Nakuba igama liyinkimbinkimbi kancane, akukho okufanele ukwesabe. Namuhla, ake sixoxe ngalesi sifo, izimpawu zaso, nokuthi yini engenziwa ngaso ngendlela elula kakhulu nenobungane.
Siyini isifo sikaCharcot-Marie-Tooth (CMT)?
Kalula nje, i-CMT yisimo esithinta imizwa engaphandle kobuchopho bethu kanye nomgogodla . Sibiza le mizwa ngokuthi imizwa engaphandle. Le mizwa ithwala imiyalezo esuka ebuchosheni bethu iye emilenzeni yethu futhi iletha imizwa (ukushisa, ukubanda, ubuhlungu) evela emilenzeni yethu ibuyele ebuchosheni. Ku-CMT, le mizwa yonakele.
Leli gama elingavamile livela emagameni odokotela abathathu abathola lesi sifo okokuqala ngo-1886 (uJean-Martin Charcot, uPierre Marie, noHoward Henry Tooth). Libizwa nangokuthi `(i-geditary motor and sensory neuropathy)` kanye `(peroneal muscular atrophy)`. Lesi akusona isifo esisodwa, kodwa iqembu lezifo ezibangelwa izici zofuzo. Kuze kube manje, izinhlobo ezingaphezu kuka-90 ze-CMT sezitholiwe.
Into ebaluleke kakhulu ukuthi lesi akusona isifo esithathelwanayo. Lokho kusho ukuthi asinakusabalala kusuka komunye umuntu kuya komunye ngokuthimula noma ngokuthinta.
Yini ebangela isifo se-CMT?
Lesi sifo sibangelwa ukuguquka kwezakhi zofuzo ezizakhini zethu zofuzo . Lokhu kuyinto edluliselwa kusuka kumzali kuya enganeni. Cabanga ngesimiso sethu sezinzwa njengenethiwekhi yezintambo zocingo. Ubuchopho buyisizinda esiyinhloko. Ukusuka lapho, buthumela imiyalezo emisipheni esezingalweni nasemilenzeni yethu ukuze "sizelulele" futhi "sizelulele." Okwenzekayo ku-CMT ukuthi lezi zintambo zocingo, noma imizwa, azisebenzi kahle.
Lokhu kuphazamiseka kwezakhi zofuzo kuvimbela imizwa ekudluliseni imiyalezo ngokunembile nangokushesha. Ngokuhamba kwesikhathi, le mizwa iyancipha kancane kancane, yonakale, futhi inganyamalala. Yilapho kuvela khona izimpawu ezifana nobuthakathaka bemisipha kanye nokulahlekelwa umuzwa.
Yiziphi izimpawu ezivamile zalesi sifo?
Izimpawu ze-CMT zivame ukuqala ukubonakala ebuntwaneni noma ebusheni . Lezi zimpawu ziqala ukubonakala ezinyaweni nasemilenzeni.
| Isibonakaliso | Incazelo elula |
|---|---|
| Ushintsho esimweni sonyawo | Ingxenye ephezulu yonyawo igobile ngokungadingekile. Futhi, izinzwane zigobile phakathi, zakha isimo sesando. Lokhu sikubiza ngokuthi "ama-hammertoe". Lokhu kwenza kube nzima ukuhamba, futhi kungabangela izilonda, amabhamuza, kanye nokuqina kwesikhumba uma ugqoka izicathulo. |
| Ubunzima bokuhamba | Kuba nzima ukuphakamisa unyawo phansi uma uhamba. Lokhu kubizwa ngokuthi "ukuwa kwezinyawo." Lokhu kubangela ukuthi unyawo luhudule phansi, noma kufanele uhambe "ngokushaywa ngempama". |
| Ubuthakathaka bemisipha | Ngokuhamba kwesikhathi, imisipha, ikakhulukazi emilenzeni engezansi, iba mncane futhi ibe buthakathaka. |
| Ukulahlekelwa yizinkinga zokuzwa kanye nokulinganisela | Kungase kube nokuqaqamba noma ukuba ndikindiki ezinyaweni nasezizandleni. Kuba nzima ukugcina ibhalansi emzimbeni. |
Njengoba lesi sifo siqhubeka, lezi zimpawu zingathinta nemisipha yezandla nezingalo. Kodwa-ke, abantu abanalesi sifo bavame ukuphila impilo ende negcwele .
Udokotela usithola kanjani lesi sifo ngokunembile?
Uma wena noma ingane yakho ninalezi zimpawu, into engcono kakhulu ongayenza ukubonana nodokotela . Udokotela wakho angakuthumela kudokotela wezinzwa, udokotela ogxile ohlelweni lwezinzwa.
Benza izivivinyo eziningana ukuze bathole lesi sifo, njengokuthi:
- Umlando wezokwelapha womndeni : Buza ukuthi kukhona yini emndenini wakho oke waba nalezi zimpawu.
- Ukuhlolwa komzimba:Benza izivivinyo ezifana ne-reflex ye-knee-jerk, ehilela ukuchofoza idolo ngesando esincane. Lezi zi-reflex zibuthakathaka kakhulu kubantu abane-CMT. Bahlola nobuthakathaka bemisipha ngokubacela ukuba bahambe ngamathe abo.
- Ukuhlolwa kwejubane lokuqhuba imizwa: Lokhu kuhilela ukunamathisela ama-electrode amancane esikhumbeni nokuthumela ugesi omncane kakhulu ukukala ukuthi imizwa ithumela imiyalezo ngokushesha kangakanani. Lesi sivinini sihamba kancane ezigulini ze-CMT.
- I-Electromyography (EMG): Inaliti encane kakhulu ifakwa emisipheni bese umsebenzi kagesi wemisipha ulinganiswa ngenkathi wenza isenzo, njengokugoqa isibhakela sakho.
- Ukuhlolwa kwe-DNA: Kuthathwa isampula yegazi ukuze kuhlolwe amaphutha ofuzo abangela i-CMT. Kodwa-ke, ukuthi nje ukuhlolwa akutholi sici akusho ukuthi i-CMT ayikho, ngoba akuzona zonke izakhi zofuzo ezibangela lesi sifo ezitholakele.
Yiziphi izindlela zokwelapha i-CMT?
Ngeshwa, alikho ikhambi le-CMT okwamanje . Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu nasekuphileni impilo enhle.
Into ebaluleke kakhulu ukuphatha lesi sifo. Kunezindlela ezahlukene zokwenza lokhu.
- Ukwelashwa Komzimba: Lokhu kubaluleke kakhulu. Ukuqinisa imisipha nokwelula umzimba kwenziwa ngaphansi kokuqondiswa ngumelaphi. Ukuzivocavoca okungafaki isisindo emalungeni, njengokubhukuda nokugibela ibhayisikili, kuhle kakhulu. Kubaluleke kakhulu ukuqala lokhu kwelashwa ezigabeni zokuqala , ngaphambi kokuba imisipha ibe buthakathaka.
- Ukwelashwa Ngomsebenzi: Lokhu kwelashwa kuyasiza lapho isifo sithinta izandla futhi kwenza kube nzima ukwenza imisebenzi yansuku zonke (ukudla, ukugqoka). Kufundisa amakhono okuqinisa ukubamba nokwenza izinto zibe lula.
- Amadivayisi Okusiza: Izinsimbi zokubopha imilenze kanye nezicathulo ezenziwe ngokwezifiso kungenza ukuhamba kube lula futhi kunikeze ukusekelwa okungcono komzimba.
- Imithi: Iziqeda-zinhlungu neminye imithi iyatholakala ezintweni ezifana nobuhlungu bemisipha kanye nobuhlungu bemizwa. Kufanele ukhulume nodokotela wakho ngalokhu bese ukhetha okulungile.
- Ukuhlinzwa: Kwezinye izimo, ukuhlinzwa kunganconywa ukuze kulungiswe ukukhubazeka okukhulu nezinkinga zamalunga ezinyaweni. Kodwa-ke, ukuhlinzwa akukwazi ukulungisa umonakalo wezinzwa.
Ingabe lesi sifo singadala ezinye izinkinga?
Yebo, i-CMT ngezinye izikhathi ingabangela ezinye izinkinga zempilo.
- Ubunzima bokuphefumula nokugwinya: Lokhu akuvamile. Kodwa uma imisipha elawula i-diaphragm ithintekile, ungase ube nobunzima bokuphefumula njalo. Uma lokhu kwenzeka, bona udokotela ngokushesha. Kungaba yisimo esiphuthumayo.
- Ukutheleleka: Ngenxa yokuthi izinyawo azinamizwa eminingi, ngezinye izikhathi ngisho nemihuzuko emincane namanxeba awabonakali. Uma la manxeba engelashwa kahle, angangenwa yileli gciwane. Ngakho-ke, kubaluleke kakhulu ukuhlola izinyawo zakho njalo nokuzigcina zihlanzekile .
- I-Hip Dysplasia: Uma i-hip joint ingafakwanga kahle, i-CMT ingenza isimo sibe sibi kakhulu.
- Izingozi ngesikhathi sokukhulelwa: Abesifazane abane-CMT basengozini enkulu kancane yokuthola izinkinga ezithile ngesikhathi sokukhulelwa.
Umlayezo Wokuya Nawe Ekhaya
- I-Charcot-Marie-Tooth (CMT) isifo sezinzwa esidluliselwa kubazali. Asithelelani.
- Izimpawu eziyinhloko ubuthakathaka kancane kancane kwemisipha, ikakhulukazi emilenzeni nasezinyaweni, ubunzima bokuhamba, kanye nokulahlekelwa umuzwa.
- Nakuba kungelapheki ngokuphelele, ngokwelashwa ngokomzimba, amadivayisi okusiza, kanye nokuphathwa okufanele, impilo enhle kakhulu negcwele ingaphilwa.
- Uma unalezi zimpawu, ungesabi noma ulibale, bona udokotela bese uthola ukuxilongwa okufanele.
- Kubaluleke kakhulu ukunakekela izinyawo zakho, uzihlanze njalo futhi uhlole ukulimala.
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