Siyini isifo samazinyo i-Charcot-Marie-Tooth Disease (CMT)? Ake sixoxe ngaso kalula!

Ingabe ngezinye izikhathi uzizwa sengathi izitho zakho zomzimba zibuthakathaka kancane, noma imisipha yakho ibuthakathaka kancane? Mhlawumbe imilenze yakho iyaxakeka lapho uhamba, noma uzizwa sengathi kukhona ushintsho oluncane esimweni semilenze yakho? Esinye sezizathu zalezi zinto yiCharcot -Marie-Tooth Disease (CMT) , esizokhuluma ngayo namuhla. Leli gama lingase lizwakale lingavamile, kodwa kubaluleke kakhulu ukwazi ngalo.

Ngakho-ke, iyini le Shako-Marie-Tooth (CMT)?

Kalula nje, i-CMT yisimo esithinta imizwa elawula imisipha yomzimba wethu. Ibangelwa kakhulu ukuguquka kwezakhi zofuzo. Lokhu kusho ukuthi ungazuza lesi sakhi sofuzo kumama wakho, kubaba wakho, noma kokubili.

I-CMT ingenye yezifo ezivame kakhulu ze-genetic peripheral neuropathy . Igama elithi "peripheral nerves" libhekisela kuzo zonke izinzwa eziphuma ebuchosheni bethu kanye nomgogodla (okungukuthi, uhlelo lwezinzwa oluphakathi). Lezi zinzwa zifana nemigwaqo eholela emadolobheni amakhulu ezwe lethu iye ezindaweni ezikude. Lezi zinzwa yizo ezithwala imizwa ezithweni zethu, eminweni, nasemisipheni.

Ubani othinteka kakhulu yilesi sifo?

Lesi simo esibizwa ngokuthi i-CMT singathinta abantu banoma yiluphi uhlanga noma uhlanga. Sithinta abesilisa nabesifazane ngokulinganayo. Kodwa-ke, sibhekwa njengesifo esingavamile emhlabeni jikelele. Ucwaningo lubonisa ukuthi cishe abantu abayisigidi emhlabeni wonke bahlushwa yilesi simo.

I-CMT iyithinta kanjani imizimba yethu?

Ukuze siqonde lokhu, sidinga ukwazi okuncane ngamaseli ethu ezinzwa, noma ama-neurons . Ama-neurons afana nezithunywa ezincane ezithwala ulwazi emizimbeni yethu.

Okunye okwengeziwe ngama-neurons

I-neuron ngayinye inezingxenye eziningana eziyinhloko:

• Umzimba weseli: Lokhu kufana nesikhungo sokulawula esiyinhloko se-neuron.
• I-Axon: Lena yingxenye ende, efana nengalo ephuma emzimbeni weseli. Cabanga ngayo njengentambo kagesi. Yilapho izimpawu zikagesi zihamba khona. Ekugcineni kwe-axon kunezakhiwo ezincane ezifana neminwe ezibizwa ngokuthi ama-synapses . Lawa ma-synapses aguqula izimpawu zikagesi zibe izimpawu zamakhemikhali futhi adlulisele ulwazi kwamanye ama-neurons aseduze.
• Ama-dendrite: Lawa ama-dendrite amancane, afana namagatsha asuka emzimbeni weseli. Aqanjwa kanjalo ngoba abukeka njengamagatsha esihlahla. Lawa ma-dendrite athola izimpawu zamakhemikhali ezivela kwamanye ama-neuron.
• I-Myelin: Lena yi-sheath evikelayo enamafutha ezungeze ama-axon amaningi ama-neurons. Ifana nepulasitiki emboze ucingo lukagesi. Le sheath ye-myelin ivumela izimpawu ukuthi zihambe nge-axon ngokushesha.

Manje, esifweni se-CMT, la ma-neurons onakele ngezindlela ezimbili eziyinhloko.

1. Ukulahlekelwa yi-Myelin:I-CMT ngezinye izikhathi ingalimaza lesi sigxobo se-myelin. Noma i-myelin ingase ingakheki kahle kwasekuqaleni. Kodwa-ke, lokhu kunciphisa ijubane lapho izimpawu zemizwa zihamba khona. Kufana nentambo enesembozo sepulasitiki esiphukile esivuzayo.

2. Izinkinga ze-Axon: Lapho ama-axon eqala ukuncipha noma ukuba buthaka ngenxa ye-CMT, amandla ezimpawu ezidlula kuleyo neuron ayancipha.

Kwezinye izinhlobo ze-CMT, ijubane lezimpawu zemizwa lincishiswa kancane, kodwa lokho kwanele ukubangela izimpawu. Kodwa kunzima ukusho ngokuqinisekile ukuthi inkinga iku-myelin noma i-axon. Ochwepheshe babiza lezi zinhlobo ngokuthi "eziphakathi".

Akuwona wonke ama-neuron emizimbeni yethu anobude noma usayizi ofanayo. Ama-neuron amade kakhulu agijima emgogodleni wethu aye emilenzeni nasezinyaweni zethu yilawo aqala ukuthinteka ku-CMT . Izandla nezingalo nazo zingathinteka, kodwa lokhu ngokuvamile akwenzeki ekuqaleni kwesifo.

Ziyini izimpawu zesifo se-CMT?

Izimpawu ze-CMT zivame ukuqala ebusheni, cishe eminyakeni eyishumi noma eyishumi nambili . Kodwa-ke, zingaqala kusenesikhathi, ebuntwaneni, noma eminyakeni ephakathi. Izimpawu zivela kancane kancane, zanda kancane kancane ngokuhamba kwesikhathi.

Kunezinhlobo ezimbili eziyinhloko zezimpawu ku-CMT, kuye ngokuthi yiziphi izimpawu zemizwa ezithintekile. Lezi zimpawu zibizwa ngokuthi i-motor kanye ne-sensory .

• Izimpawu zokunyakaza: Lezi yizibonakaliso ezihamba zisuka ebuchosheni bethu ziye emisipheni yethu. Lezi zibonakaliso zitshela imisipha yethu ukuthi "ihambe lapha nalaphaya." Ngakho-ke, uma kunenkinga ngokudluliswa kwalezi zimpawu zokunyakaza, asikwazi ukulawula imisipha yethu ngendlela efanele. Ikakhulukazi ezithweni zethu zomzimba.
• Ubuthakathaka bemisipha.
• Mhlawumbe izimo ezifana nokukhubazeka .
• Ukuwohloka kwemisipha kuwukuncipha kwezicubu zemisipha .
• Ukuncipha noma ukulahlekelwa yi-reflexes.
• Ukukhubazeka kwezinzwane, isibonelo, isimo esibizwa ngokuthi ama-hammertoes .
• Ukuwa kwezinyawo , okusho ukungakwazi ukuphakamisa iphansi lonyawo bese kulwenza luwe phansi, noma unyawo lukhuphuke kakhulu.
• Uhambo oluphindaphindayo kanye nokuwa ngenxa yezinguquko endleleni yokuhamba ( ukuphazamiseka kokuhamba ).
• Ukukhubeka njalo kweqakala .
• Ubunzima bokuphefumula (lokhu kuvame ukubonakala kuphela ezimweni ezinzima kakhulu).

• Izimpawu zokuzwa: Lezi yizibonakaliso eziya ebuchosheni ezivela ezingxenyeni ezahlukene zomzimba wethu. Lezi zibonakaliso zitshela ubuchopho ukuthi, "Lokhu kuzwakala kanje." Ngakho-ke, uma kunenkinga ngalezi zimpawu zokuzwa, sibhekana nezinguquko emizweni emilenzeni yethu engezansi, ezinyaweni nasezandleni.
• Ukuba ndikindiki noma ukuthuthumela .
• Ukulahlekelwa umuzwa wokufudumala noma ubuhlungu emilenzeni engezansi, ezinyaweni, noma ezintendeni zezandla.
• Nginomuzwa wokuthi kukhona okukhasa emilenzeni yami.
• Ubuhlungu obungapheli .
• Ukuncipha noma ukulahlekelwa umuzwa kwezinye izinzwa, ikakhulukazi umbono nokuzwa (lokhu akuvamile kakhulu, kubonakala kuphela ezinhlotsheni ezithile ze-CMT).

Yini ebangela i-CMT?

Wonke amaseli ezinzwa emzimbeni wethu anento ebizwa ngokuthi i-DNA . Le DNA ifana nencwadi yemiyalelo. Yile DNA enikeza amaseli imiyalelo yokwenza umsebenzi wawo kahle. Ukuguqulwa kwezakhi zofuzo kufana nephutha encwadini kule ncwadi yemiyalelo ye-DNA. Amaseli ethu alandela imiyalelo ekule DNA ngqo. Ngakho-ke, ngenxa yokuguqulwa okunjalo, amaseli aqala ukusebenza ngendlela engafanele. Yileyo ndlela i-CMT ekhula ngayo.

I-CMT ingabangelwa izinguquko ku-gene eyodwa noma izinguquko ku-gene eziningi. Abacwaningi manje sebethole inqwaba yezinguquko ze-genetic ezibangela izinhlobo ezahlukene ze-CMT.

Kunezindlela ezimbili eziyinhloko zokuthola ukuguqulwa kwe-DNA:

• Ifa: Uthola lezi zinguquko ze-DNA kumama wakho, kuyihlo, noma kokubili.
• Okuzenzekelayo: Lokhu kuguquka kwenzeka ngesikhathi usakhula njengomntwana osesiswini sikamama wakho. Lokhu ngezinye izikhathi kubizwa ngokuthi "ukuguquka kwe-de novo", okusho ukuthi "okusha."

Ingabe kunezinhlobo ezahlukene ze-CMT?

Yebo, kunezinhlobo eziyisikhombisa eziyinhloko ze-CMT. Kodwa-ke, uhlobo lwe-CMT 1 (CMT1) kanye nohlobo lwe-CMT 2 (CMT2) yizona ezivame kakhulu. Ezinye izinhlobo azivamile kakhulu.

• Uhlobo lwe-CMT 1 (CMT1): Lolu hlobo luthinta i-myelin, ngakho-ke izimpawu zihamba kancane. Izimpawu zivame ukuvela phakathi kweminyaka eyi-10 nengama-40. Kodwa-ke, abanye abantu bangase bahlale bengenazo izimpawu amashumi eminyaka. Lolu uhlobo lwe-CMT oluvame kakhulu. Luvame ukuphindwe kabili kune-CMT2.
• I-CMT2: Lolu hlobo luthinta ama-axon. Izimpawu zemizwa zibuthakathaka futhi zingase zihambe kancane. Cishe ingxenye yesithathu yeziguli ze-CMT ziwela kulolu hlobo.

Ngaphandle kwalokhu, kunezinye izinhlobo ze-CMT:

• I-CMT3 (ebizwa nangokuthi isifo i-Dejerine-Sottas ).
• I-CMT X-linked (CMTX).
• I-CMT Ephakathi Ebusayo (i-CMTDI).
• I-CMT ephakathi ephindaphindayo (i-CMTRI).

Ingabe lesi yisifo esithathelwanayo?

Cha, i-CMT ayisona isifo esithathelwanayo. Ayikwazi ukusabalala isuka komunye umuntu iye komunye.

Isifo se-CMT sihlolwa kanjani ngokunembile?

Ukuze athole ukuthi hlobo luni lwe-CMT onalo nokuthi lunzima kangakanani, udokotela ngokuvamile kufanele asebenzise izindlela eziningana, okuhlanganisa ukuhlolwa ngokomzimba nangokwezinzwa ., izivivinyo zelebhu, izivivinyo zezithombe, kanye nezinye izivivinyo zokuxilonga. Udokotela uzobuza nangomlando wezokwelapha womndeni wakho, izimpawu zakho, kanye nolwazi lwendlela yokuphila.

Hlobo luni lokuhlolwa okwenziwayo ngalokhu?

Uma usola ukuthi une-CMT, kungenzeka kakhulu ukuthi ube nalezi zivivinyo:

• I-Electromyogram (EMG) , ikakhulukazi izivivinyo zokuqhuba izinzwa , zilinganisa ukuthi izinzwa zakho ziqhuba ngokushesha nangokunamandla kangakanani izimpawu.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kungabona ukuthi kukhona yini izinguquko zezakhi zofuzo ezibangela i-CMT.
• Ukubhoboza umgogodla/umgogodla: Lokhu kusetshenziselwa ukuhlola uketshezi lomgogodla. Lokhu akwenzelwa wonke umuntu.
• Isithombe Sokuzwakala Kwe-Magnetic (MRI) .
• Ukuhlolwa kwe-Ultrasound .
• Ukuhlolwa okungenzeka okuvuselelwe: Lokhu kusiza ukubona ukuthi kukhona yini izinhlobo ze-CMT, ikakhulukazi lezo ezithinta ukuzwa nokubona.
• Ukuhlolwa kwemithambo yegazi: Lokhu akwenziwa njalo. Kuhilela ukuthatha ingxenye encane yezicubu emsipheni bese uyihlola.

Yiziphi izindlela zokwelapha i-CMT? Ingabe ingelapheka ngokuphelele?

Uma ngikhuluma iqiniso, okwamanje ayikho indlela yokwelapha ngokuphelele i-CMT noma yokwelapha lesi sifo ngqo . Kodwa-ke, izimpawu nemiphumela ebangelwa yilesi sifo ngokuvamile ingelashwa.

Uhlobo luni lomuthi/ukwelashwa olusetshenziswayo?

Izindlela zokwelapha ezisetshenziswa kakhulu ze-CMT yilezi:

• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Lokhu kungakusiza ukuqinisa imisipha yakho, kuthuthukise ibhalansi yakho, futhi kwenze imisebenzi yansuku zonke ibe lula.
• Izinsiza zokuhamba njengezinsimbi zokubopha imilenze , izinto zokuhamba , kanye nezihlalo zabakhubazekile .
• Izicathulo ezikhethekile ezivumelana noshintsho esimweni sezinyawo.
• Ukuhlinzwa ukulungisa izinguquko esimweni sezingalo, imilenze, izinqe, noma umhlane.
• Imithi yezinye izimpawu, ikakhulukazi ubuhlungu obungapheli.

Kunezinye izindlela zokwelapha ezitholakalayo ze-CMT, kodwa ziyahlukahluka kuye ngohlobo oluthile lwesifo. Udokotela wakho uyakwazi kangcono ukukweluleka ngokuthi yiziphi izindlela zokwelapha ezizokusiza kakhulu, njengoba zingenza ulwazi luhambisane nesimo sakho kanye nezidingo zakho.

Udokotela wakho uzokutshela kabanzi ngemiphumela emibi kanye nezinkinga ezingase zenzeke ngemithi ehlukene, nokuthi kuzothatha isikhathi esingakanani ukuthi ululame futhi ubuyele empilweni evamile.

Yini ongayilindela uma uhlala ne-CMT? Ikusasa liphetheni?

Ngokuvamile, i-CMT ayiyona ingozi kakhulu.Kodwa ezinye zezinhlobo eziyingozi kakhulu zalesi sifo zingaba yingozi empilweni. Abantu abaningi abane-CMT banezinkinga zokuhamba, ukunyakaza, noma ukuzwa imizwa ethile. Kodwa lokhu akuvamile ukufinyeza isikhathi sabo sokuphila. Ngamadivayisi akhethekile okusiza, ikakhulukazi izinsimbi zokubopha izinyawo namaqakala noma izicathulo, abantu abaningi abane-CMT bangaphila isikhathi sokuphila esijwayelekile futhi baphile impilo ejabulisayo neyanelisayo.

Khumbula, ungaphila impilo enhle ngisho noma une-CMT. Okudingayo nje iseluleko sezokwelapha esifanele kanye nokusekelwa.

Ezinhlotsheni ezinzima zalesi sifo, into eyingozi kakhulu ubuthakathaka bemisipha elawula ukuphefumula nokugwinya. Lokhu kungaholela ekuhlulekeni kokuphefumula , i-pneumonia, ngisho nezimo ezisongela ukuphila. Lezi zimo ezibucayi zivame ukwenzeka uma izimpawu ze-CMT ziqala ebuntwaneni, ikakhulukazi ebuntwaneni.

I-CMT ihlala isikhathi esingakanani?

I-CMT iyisimo esihlala njalo, esihlala isikhathi eside . Uzalwa nayo, kodwa abantu abaningi ababi nezimpawu kuze kube yilapho sebekhulile. Okwamanje ayikho ikhambi layo, futhi ayilulami ngokwayo.

Ingabe ikhona indlela yokuvimbela i-CMT ukuthi ingakhuli?

Isifo i-Shaklo-Marie-Tooth isifo osithola njengefa noma into eyenzeka ngokungalindelekile. Ngakho-ke, ayikho indlela yokusivimbela noma yokunciphisa ingozi yokusithola .

Nakuba i-CMT ingenakuvinjelwa, ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa kungakusiza ukuthi uthole ukuthi izingane zakho zisengozini yokuyithola yini. Udokotela wakho noma umeluleki wezakhi zofuzo angakutshela okwengeziwe ngalokhu.

Kwenzekani uma umuntu one-CMT ekhulelwa?

Iningi labantu abane-CMT lingaba nezingane. Kodwa-ke, ezinye izinkinga zingase zibe khona noma zibe namathuba amaningi okuba khona. Abesifazane abaningi abakhulelwe abane-CMT bangadinga ukunakekelwa okwengeziwe ngesikhathi sokukhulelwa noma sokubeletha. Banengozi enkulu kancane yokopha ngemva kokubeletha.

Udokotela wakho uzokutshela okwengeziwe ngokuthi lokhu kuyasebenza yini kuwe nokuthi yini ongayenza. Bangase bakuthumele kochwepheshe, ikakhulukazi odokotela bezokwelapha komama nomntwana abangochwepheshe ekukhulelweni okuyinkimbinkimbi.

Ngingazinakekela kanjani futhi ngiphathe izimpawu zami?

Uma une-CMT, udokotela wakho ungumthombo ongcono kakhulu wolwazi mayelana nalokho ongakwenza nalokho okufanele ukwenze ukuze uzinakekele futhi uphathe lesi simo. Bangaqapha inqubekela phambili yesimo sakho futhi batuse ukwelashwa noma amasu okukusiza.

Ngokuvamile, kufanele wenze lezi zinto ezilandelayo:

• Bonana nodokotela wakho njengoba kunconywa. Lokhu kubaluleke kakhulu ngoba udokotela wakho angabona ukuthi isimo sakho siqhubeka kanjani nokuthi sikuthinta kanjani. Bangase bakwazi ukushintsha uhlelo lwakho lokwelashwa noma benze iziphakamiso ngezinto ezingakusiza.
• Landela uhlelo lwakho lokwelashwa ngqo. Lokhu kusho ukuthatha imithi yakho nokusebenzisa imishini yakho yezokwelapha njengoba kuyalelwe udokotela wakho. Lokhu kubaluleke kakhulu, njengoba kungakusiza ukuthi uthole impumuzo ezimpawini zakho noma kwehlise izinga lapho ezinye izimpawu ziba zimbi khona.
• Gwema izidakamizwa noma izinto eziyingozi ohlelweni lwezinzwa (izinto ezinobuthi be-neuro). Lezi yizinto ezinengozi enkulu yokulimaza uhlelo lwakho lwezinzwa. Udokotela wakho cishe uzokutshela ukuthi unciphise noma uyeke ukuphuza utshwala ngokuphelele. Ngoba ukuphuza utshwala obuningi kungalimaza nohlelo lwezinzwa.

Kufanele ubonane nini nodokotela? Kunini lapho kudingeka khona ukwelashwa okuphuthumayo?

Udokotela wakho uzohlela ukuvakasha okulandela njalo ukuze aqaphe isimo sakho kanye nezimpawu zakho. Futhi, uma ubona noma yiziphi izinguquko ezimpawu zakho, ikakhulukazi uma ziphazamisa imisebenzi yakho evamile, kufanele ubonane nodokotela wakho.

Kufanele uye nini esibhedlela (ETU) ukuze uthole ukwelashwa okuphuthumayo?

Iningi labantu abane-CMT alidingi ukwelashwa okuphuthumayo, ngaphandle kokuthi banenkinga yokulawula imisipha yabo yemilenze nokuwa. Uma uwa, kufanele ufune usizo lwezokwelapha uma kukhona ingozi yokulimala ekhanda lakho, entanyeni, noma emhlane . Lokhu kungenxa yokuthi i-CMT ingabangela izinkinga ezinkulu uma noma iyiphi ingxenye yesimiso sakho sezinzwa esiyinhloko yonakele.

Eminye imibuzo emincane embalwa...

Ingabe isifo sikaShaklo-Marie-Tooth siwuhlobo olufanayo lwesifo njenge-Multiple Sclerosis (MS)?

Cha. I-Multiple sclerosis (MS) yisimo lapho i-myelin sheath ezungeze ama-neurons ebuchosheni kanye nomgogodla ivuvukala khona. Ezinye izinhlobo ze-CMT zinezimpawu ezifanayo, kodwa ngaphandle kwalokho, lezi zimo ezimbili zihluke kakhulu.

Ingabe i-CMT iyisifo sokuzivikela komzimba?

Cha, i-CMT ayisona isifo sokuzivikela komzimba. Kodwa-ke, izinguquko ezithile ku-gene ye-PMP22, evame ukubangela i-CMT, zingandisa ingozi yokuthola izifo ezithile zokuzivikela komzimba.

Ingabe isifo se-CMT siyawuthinta ubuchopho?

Ngokuvamile, i-CMT ayithinti ngqo ubuchopho . I-CMT ithinta kakhulu ama-neuron amade kanye nemicu yezinzwa. Lokhu kutholakala emgogodleni kanye nasezinzwa ezingaphandle, hhayi ebuchosheni. Ezinye izinhlobo ze-CMT zingabangela izinguquko ezincane esakhiweni sobuchopho, kodwa ochwepheshe abakatholi ukuthi lokhu kunomthelela omkhulu nokhathazayo ekusebenzeni kobuchopho.

Izinto ezibaluleke kakhulu okufanele uzikhumbule kulokho esixoxe ngakho (Umyalezo Wokuya Ekhaya)

Isifo se-Chaucer-Marie-Tooth (CMT) yiqembu lezimo ezithinta uhlelo lwakho lwezinzwa oluseceleni, inethiwekhi yezinzwa ezixhumanisa ubuchopho bakho nomgogodla. Lesi simo sithinta kakhulu ikhono lakho lokulawula ukunyakaza kwemisipha kanye nendlela ozizwa futhi uqonda ngayo umhlaba okuzungezile. Abantu abaningi abanalesi simo badinga amadivayisi noma izinto zokusiza. Abanye badinga ukuhlinzwa noma izinto ezifana nokwelashwa ngokomzimba noma ukwelashwa emsebenzini.

Kodwa-ke, i-CMT ngokuvamile ayisona isimo esiyingozi noma esisongela ukuphila. Iningi labantu abanayo liphila impilo ejwayelekile, futhi liphila impilo ejabulisayo neyanelisayo. Into ebalulekile ukukhumbula ukuthi awuwedwa nokuthi ungathola usizo lokuphila ngempumelelo nalesi simo. Uma unemibuzo noma ukukhathazeka ngalokhu, qiniseka ukuthi ukhuluma nodokotela.

UShako -Marie-Tooth, i-CMT, Izifo ze-Neurological, Izifo zofuzo, Ubuthakathaka bemisipha, I-Peripheral neuropathy, Ama-Neuron