Yintoni iCharcot-Marie-Tooth Disease (CMT)? Masithethe ngayo ngokulula!

Ngaba ngamanye amaxesha uziva ngathi amalungu akho abuthathaka kancinci, okanye izihlunu zakho zibuthathaka kancinci? Mhlawumbi imilenze yakho iyabhideka xa uhamba, okanye uziva ngathi kukho utshintsho oluncinci kwimo yemilenze yakho? Esinye sezizathu zezi zinto yiCharcot -Marie-Tooth Disease (CMT) , esiza kuthetha ngayo namhlanje. Eli gama lisenokuvakala lingaqhelekanga, kodwa kubaluleke kakhulu ukulazi.

Ngoko ke, yintoni le Shako-Marie-Tooth (CMT)?

Ngamafutshane, i-CMT yimeko echaphazela imithambo-luvo elawula izihlunu zomzimba wethu. Ibangelwa ikakhulu kukuguquka kwezakhi zofuzo. Oku kuthetha ukuba ungayifumana le jini kumama wakho, kutata wakho, okanye kubo bobabini.

I-CMT yenye yezona zifo zixhaphakileyo ze-genetic peripheral neuropathy . Igama elithi "peripheral nerves" libhekisa kuzo zonke ii-nerve eziphuma kwingqondo yethu nakwi-spinal cord (oko kukuthi, inkqubo ye-nervous ephakathi). Ezi mithambo-luvo zifana neendlela ezikhokelela ukusuka kwizixeko eziphambili zelizwe lethu ukuya kwiindawo ezikude. Ezi mithambo-luvo zezona zithwala iimvakalelo eziya emilenzeni, kwiminwe, nakwimisipha yethu.

Ngubani ochaphazeleka kakhulu sesi sifo?

Le meko ibizwa ngokuba yi-CMT inokuchaphazela abantu balo naluphi na uhlanga okanye uhlanga. Ichaphazela amadoda nabafazi ngokulinganayo. Nangona kunjalo, ithathwa njengesifo esingaqhelekanga kwihlabathi liphela. Uphando lubonisa ukuba phantse isigidi sabantu kwihlabathi liphela banesifo esinjalo.

I-CMT iyichaphazela njani imizimba yethu?

Ukuze sikuqonde oku, kufuneka siqale sazi kancinci ngeeseli zethu zemithambo-luvo, okanye ii-neurons . Ii-neurons zifana nezithunywa ezincinci ezithwala ulwazi olujikeleze imizimba yethu.

Okungakumbi malunga nee-neurons

I-neuron nganye ineenxalenye eziphambili ezininzi:

• Umzimba weseli: Oku kufana neziko lolawulo eliphambili le-neuron.
• I-Axon: Le yinxalenye ende, efana nengalo ephuma emzimbeni weseli. Yicinge njengocingo lombane. Kulapho kuhamba khona imiqondiso yombane. Ekupheleni kwe-axon kukho izakhiwo ezincinci ezifana neminwe ezibizwa ngokuba yi-synapses . Ezi synapses ziguqula imiqondiso yombane ibe yimiqondiso yamakhemikhali kwaye zidlulisele ulwazi kwezinye ii-neurons ezikufutshane.
• Iidendrites: Ezi zizakhiwo ezincinci ezifana namasebe ezisuka emzimbeni weseli. Zithiywe ngolu hlobo kuba zifana namasebe omthi. Ezi dendrites zifumana imiqondiso yeekhemikhali evela kwezinye ii-neurons.
• I-Myelin: Le yi-fatty sheath ekhuselayo ejikeleze ii-axons zee-neurons ezininzi. Ifana neplastiki egqume ucingo lombane. Le sheath ye-myelin ivumela imiqondiso ukuba ihambe ngokukhawuleza kwi-axon.

Ngoku, kwisifo se-CMT, ezi neurons zonakele ngeendlela ezimbini eziphambili.

1. Ukulahleka kweMyelin:I-CMT ngamanye amaxesha inokonakalisa esi sheath se-myelin. Okanye i-myelin isenokungakheki kakuhle kwasekuqaleni. Nangona kunjalo, oku kuyacothisa isantya esihamba ngaso imiqondiso yemithambo-luvo. Kufana nocingo oluneplastiki ephukileyo egqumayo evuzayo.

2. Iingxaki ze-Axon: Xa ii-axon ziqala ukuncipha okanye ukuba buthathaka ngenxa ye-CMT, amandla emiqondiso edlula kuloo neuron ayancipha.

Kwezinye iintlobo ze-CMT, isantya semiqondiso yemithambo-luvo sincitshiswa kancinci, kodwa oko kwanele ukubangela iimpawu. Kodwa kunzima ukutsho ngokuqinisekileyo ukuba ingxaki ikwi-myelin okanye kwi-axon. Iingcali zibiza ezi ntlobo "eziphakathi".

Ayizizo zonke ii-neurons emizimbeni yethu ezinobude okanye ubungakanani obufanayo. Ii-neurons ezinde kakhulu ezihamba ecaleni komqolo wethu ukuya emilenzeni nasezinyaweni zethu zezo zichaphazeleka kuqala kwi-CMT . Izandla neengalo nazo zinokuchaphazeleka, kodwa oku akwenzeki kwasekuqaleni kwesi sifo.

Zithini iimpawu zesifo se-CMT?

Iimpawu ze-CMT zihlala ziqala xa umntu efikisa, malunga neminyaka elishumi okanye elishumi elinesibini . Nangona kunjalo, zinokuqala kwangethuba, ebuntwaneni, okanye xa umntu ekwiminyaka ephakathi. Iimpawu zibonakala kancinci kancinci, zikhula kancinci kancinci ngokuhamba kwexesha.

Kukho iintlobo ezimbini eziphambili zeempawu kwi-CMT, kuxhomekeke ekubeni zeziphi iimpawu zemithambo-luvo ezichaphazelekileyo. Ezi zimpawu zibizwa ngokuba yi-motor kunye ne-sensory .

• Imiqondiso yentshukumo: Le yimiqondiso esuka engqondweni yethu iye kwimisipha yethu. Le miqondiso ixelela izihlunu zethu ukuba "zihambe apha naphaya." Ngoko ke, xa kukho ingxaki ngokudluliselwa kwezi mpawu zentshukumo, asinakuyilawula kakuhle imisipha yethu. Ingakumbi kwimilenze yethu.
• Ubuthathaka bemisipha.
• Mhlawumbi iimeko ezifana nokukhubazeka komzimba .
• Ukuwohloka kwemisipha kukuncipha kwezicubu zemisipha .
• Ukuncipha okanye ukulahleka kwe-reflexes.
• Ukukhubazeka kweenyawo, umzekelo, imeko ebizwa ngokuba zii-hammertoes .
• Ukuwa kweenyawo , okuthetha ukungakwazi ukuphakamisa intende yonyawo nokubangela ukuba iwele phantsi, okanye igophe lonyawo liphakame kakhulu.
• Ukuhamba rhoqo kunye nokuwa ngenxa yotshintsho kwindlela yokuhamba ( iingxaki zokuhamba ).
• Ukukruneka kweqatha rhoqo.
• Ubunzima bokuphefumla (oku kubonakala kuphela kwiimeko ezinzima).

• Imiqondiso yeemvakalelo: Le yimiqondiso eya engqondweni evela kwiindawo ezahlukeneyo zomzimba wethu. Le miqondiso ixelela ingqondo, "Oku kuvakala ngolu hlobo." Ngoko ke, xa kukho ingxaki ngezi mpawu zeemvakalelo, sifumana utshintsho kwiimvakalelo kwimilenze yethu esezantsi, ezinyaweni, nasezandleni.
• Ukuba ndindisholo okanye ukurhawuzelela .
• Ukulahlekelwa kukufudumala okanye iintlungu emilenzeni esezantsi, ezinyaweni, okanye ezintendeni.
• Ndivakalelwa ngathi kukho into erhubuluzayo emilenzeni yam.
• Intlungu engapheliyo .
• Ukuncipha okanye ukulahleka kwemvakalelo kwezinye iimvakalelo, ingakumbi umbono nokuva (ezi aziqhelekanga kakhulu, zibonakala kuphela kwiintlobo ezithile ze-CMT).

Yintoni ebangela i-CMT?

Yonke iseli yemithambo-luvo emzimbeni wethu inento ebizwa ngokuba yi-DNA . Le DNA ifana nencwadi yemiyalelo. Yile DNA enika iiseli imiyalelo yokwenza umsebenzi wazo ngokufanelekileyo. Uguquko lwemfuza lufana nempazamo kwileta ekwincwadi yemiyalelo ye-DNA. Iiseli zethu zilandela imiyalelo ekwi-DNA ngokuchanekileyo. Ngoko ke, ngenxa yotshintsho olunjalo, iiseli ziqala ukusebenza gwenxa. Yile ndlela i-CMT ekhula ngayo.

I-CMT inokubangelwa kukuguquka kwezakhi zofuzo kwijini enye okanye kukuguquka kwezakhi zofuzo ezininzi. Abaphandi ngoku bafumanise uninzi lweenguqu zezakhi zofuzo ezibangela iintlobo ezahlukeneyo ze-CMT.

Kukho iindlela ezimbini eziphambili zokufumana utshintsho lwe-DNA:

• Ilifa: Ufumana ezi nguqu ze-DNA kumama wakho, kutata wakho, okanye kuzo zombini.
• Okuzenzekelayo: Olu tshintsho lwenzeka ngelixa usakhula njengomntwana ongekazalwa esibelekweni sikamama wakho. Ngamanye amaxesha olu tshintsho lubizwa ngokuba yi-"de novo" mutations, nto leyo ethetha "okutsha."

Ngaba kukho iintlobo ezahlukeneyo ze-CMT?

Ewe, kukho iintlobo ezisixhenxe eziphambili ze-CMT. Nangona kunjalo, uhlobo lwe-CMT 1 (CMT1) kunye nohlobo lwe-CMT 2 (CMT2) zezona zixhaphakileyo. Ezinye iintlobo azixhaphakanga kakhulu.

• Uhlobo lwe-CMT 1 (CMT1): Olu hlobo luchaphazela i-myelin, ngoko ke iimpawu zihamba kancinci. Iimpawu zihlala zibonakala phakathi kweminyaka eli-10 nengama-40. Nangona kunjalo, abanye abantu banokuhlala bengenazo iimpawu kangangeminyaka emininzi. Olu lolona hlobo luqhelekileyo lwe-CMT. Luxhaphake kabini kune-CMT2.
• I-CMT2: Olu hlobo luchaphazela ii-axons. Iimpawu zemithambo-luvo zibuthathaka kwaye zinokuhamba kancinci. Malunga nesinye kwisithathu sezigulane ze-CMT ziwela kolu hlobo.

Ngaphandle koku, kukho ezinye iintlobo ze-CMT:

• I-CMT3 (ekwabizwa ngokuba sisifo sikaDejerine-Sottas ).
• I-CMT X-linked (CMTX).
• I-CMT ePhakathi eLawulayo (i-CMTDI).
• I-CMT ephakathi ephindaphindayo (i-CMTRI).

Ingaba esi sisifo esosulelayo?

Hayi, i-CMT ayisosifo esosulelayo. Ayinakusasazeka ukusuka komnye umntu ukuya komnye.

Isifo se-CMT sichongwa njani ngokuchanekileyo?

Ukuze afumanise ukuba loluphi uhlobo lwe-CMT onayo kunye nokuba inzima kangakanani, ugqirha kufuneka asebenzise iindlela ezahlukeneyo, kuquka uvavanyo lomzimba nolwe-neurological ., iimvavanyo zelebhu, iimvavanyo zomfanekiso, kunye nezinye iimvavanyo zokuxilonga. Ugqirha uya kubuza nangembali yezonyango yosapho lwakho, iimpawu zakho, kunye nolwazi lwendlela ophila ngayo.

Luhlobo luni lovavanyo olwenziwayo koku?

Ukuba ukrokrela ukuba une-CMT, kunokwenzeka ukuba ube nezi mvavanyo zilandelayo:

• I-Electromyogram (EMG) , ingakumbi uvavanyo lokuqhuba imithambo-luvo , ilinganisa indlela imithambo-luvo yakho eqhuba ngayo imiqondiso ngokukhawuleza nangokunamandla.
• Uvavanyo lwe-genetic: Oku kunokufumanisa ukuba kukho utshintsho lwe-genetic olubangela i-CMT.
• Ukubhoboza umqolo/i-lumbar puncture: Oku kusetyenziselwa ukuhlola ulwelo lwe-cerebrospinal. Oku akwenzelwa wonke umntu.
• Umzobo weMagnetic Resonance (MRI) .
• Uvavanyo lwe-ultrasound .
• Uvavanyo olunokwenzeka oluvuselelweyo: Oku kunceda ukubona ukuba kukho iintlobo ze-CMT, ingakumbi ezo zichaphazela ukuva nokubona.
• Uvavanyo lwemithambo-luvo: Oku akwenziwa rhoqo. Kubandakanya ukuthatha iqhekeza elincinci lesicwili kumthambo-luvo uze ulihlolisise.

Ziziphi iindlela zonyango lwe-CMT? Ngaba inganyangeka ngokupheleleyo?

Inyaniso kukuba, okwangoku akukho ndlela yokunyanga ngokupheleleyo i-CMT okanye ukunyanga ngokuthe ngqo esi sifo . Nangona kunjalo, iimpawu kunye nemiphumo ebangelwa sesi sifo zihlala zinyangwa.

Loluphi uhlobo lonyango/unyango olusetyenziswayo?

Iindlela zonyango ezisetyenziswa kakhulu kwi-CMT zezi:

• Unyango lomzimba kunye nonyango lomsebenzi: Oku kunokukunceda uqinise izihlunu zakho, kuphucule ibhalansi yakho, kwaye kwenze imisebenzi yemihla ngemihla ibe lula.
• Izixhobo zokuncedisa ukuhamba ezifana nezixhobo zokuxhasa imilenze , izixhobo zokuhamba , kunye nezitulo ezinamavili .
• Izihlangu ezikhethekileyo ezilungelelanisa utshintsho kwimo yeenyawo.
• Utyando lokulungisa utshintsho kwimilo yeengalo, imilenze, izinqe, okanye umqolo.
• Amayeza kwezinye iimpawu, ingakumbi iintlungu ezingapheliyo.

Kukho ezinye iindlela zonyango ezikhoyo ze-CMT, kodwa ziyahluka ngokuxhomekeke kuhlobo oluthile lwesifo. Ugqirha wakho unokukwazi ukukucebisa ukuba loluphi unyango oluya kuba luncedo kuwe, njengoko lunokulungelelanisa ulwazi ngokwemeko yakho kunye neemfuno zakho.

Ugqirha wakho uza kukuxelela ngakumbi ngemiphumo emibi kunye neengxaki ezinokubakho kwiindlela ezahlukeneyo zonyango, kunye nokuba kuza kuthatha ixesha elingakanani ukuba uphile kwaye ubuyele kubomi obuqhelekileyo.

Yintoni onokuyilindela xa uhlala ne-CMT? Ikamva liphethe ntoni?

Ngokubanzi, i-CMT ayisiyongxaki inzima kangako.Kodwa ezinye zezona ntlobo zinzima zesifo zingasongela ubomi. Abantu abaninzi abane-CMT baneengxaki zokuhamba, ukuhamba, okanye ukuba neemvakalelo ezithile. Kodwa ezi azifane zinciphise ubomi babo. Ngezixhobo ezikhethekileyo zokuncedisa, ingakumbi izihlangu okanye izixhobo zokubopha iinyawo namaqatha, abantu abaninzi abane-CMT banokuphila ubomi obuqhelekileyo kwaye baphile ubomi obonwabisayo nobanelisayo.

Khumbula, ungaphila ubomi obuhle nokuba une-CMT. Konke okudingayo yingcebiso yezonyango efanelekileyo kunye nenkxaso.

Kwiintlobo ezinzima zesifo, eyona nto iyingozi kakhulu kukuncipha kwemisipha elawula ukuphefumla nokuginya. Oku kunokukhokelela ekungakwazini ukuphefumla , i-pneumonia, kwaneemeko ezisongela ubomi. Ezi meko zinzima zinokwenzeka ukuba iimpawu ze-CMT ziqala kwasebuntwaneni, ingakumbi ebuntwaneni.

I-CMT ihlala ixesha elingakanani?

I-CMT yimeko ehlala ihleli, ehlala ubomi bonke . Uzalwa nayo, kodwa uninzi lwabantu alubonakalisi zimpawu de babe ngabantu abadala. Okwangoku akukho nyango lwayo, kwaye ayipheli ngokwayo.

Ngaba ikho indlela yokuthintela i-CMT ukuba ingaphuhli?

Isifo seShaklo-Marie-Tooth sisifo osifumene njengelifa okanye into eyenzeka ngequbuliso. Ngoko ke, akukho ndlela yokusithintela okanye yokunciphisa umngcipheko wokusifumana .

Nangona i-CMT ingenakuthintelwa, uvavanyo lwemfuza kunye neengcebiso zinokukunceda ufumanise ukuba abantwana bakho basengozini yokuba nayo. Ugqirha wakho okanye umcebisi wemfuza unokukuxelela okungakumbi ngale nto.

Kuza kwenzeka ntoni xa umntu one-CMT ekhulelwa?

Uninzi lwabantu abane-CMT banokuba nabantwana. Nangona kunjalo, ezinye iingxaki zinokubakho okanye zinokwenzeka ngakumbi. Abafazi abaninzi abakhulelweyo abane-CMT banokufuna unyango olongezelelekileyo ngexesha lokukhulelwa okanye lokubeleka. Banomngcipheko ophezulu kancinci wokopha emva kokubeleka.

Ugqirha wakho uza kukuxelela okungakumbi malunga nokuba oku kuyasebenza na kuwe kunye nento onokuyenza. Banokukuthumela kwiingcali, ingakumbi oogqirha bamayeza oomama abakhulelweyo nabasandul’ ukuzalwa abangoochwephesha ekukhulelweni okunzima.

Ndingazinyamekela njani kwaye ndilawule iimpawu zam?

Ukuba une-CMT, ugqirha wakho ngoyena mthombo wolwazi malunga noko unokukwenza noko umele ukwenze ukuze uzinyamekele kwaye ulawule le meko. Banokujonga inkqubela phambili yemeko yakho baze bacebise unyango okanye amaqhinga okukunceda.

Ngokwesiqhelo, kufuneka wenze ezi zinto zilandelayo:

• Bona ugqirha wakho njengoko kucetyisiwe. Oku kubaluleke kakhulu kuba ugqirha wakho unokubona indlela imeko yakho eqhubeka ngayo nendlela ekuchaphazela ngayo. Banokukwazi ukutshintsha isicwangciso sakho sonyango okanye benze iingcebiso ngezinto ezinokukunceda.
• Landela isicwangciso sakho sonyango ngokuchanekileyo. Oku kuthetha ukuthatha amayeza akho nokusebenzisa izixhobo zakho zonyango njengoko ugqirha wakho ekuyalele. Ezi zibaluleke kakhulu, njengoko zinokukunceda ufumane isiqabu kwiimpawu zakho okanye zinciphise izinga apho ezinye iimpawu ziba mandundu.
• Ziphephe iziyobisi okanye izinto eziyingozi kwinkqubo yemithambo-luvo (izinto ezinobuthi kwimithambo-luvo). Ezi zizinto ezinomngcipheko omkhulu wokonakalisa inkqubo yakho yemithambo-luvo. Ugqirha wakho mhlawumbi uya kukuxelela ukuba unciphise okanye uyeke ukusela utywala ngokupheleleyo. Kuba ukusela utywala kakhulu kunokonakalisa nenkqubo yemithambo-luvo.

Ufanele uye kugqirha nini? Kufuneka unyango olungxamisekileyo nini?

Ugqirha wakho uza kucwangcisa utyelelo oluqhubekayo lokulandelela ukuze ajonge imeko yakho kunye neempawu zakho. Kwakhona, ukuba ubona naluphi na utshintsho kwiimpawu zakho, ingakumbi ukuba luphazamisana nemisebenzi yakho yesiqhelo, kufuneka ubonane nogqirha wakho.

Ufanele uye nini esibhedlele (ETU) ukuze ufumane unyango olungxamisekileyo?

Uninzi lwabantu abane-CMT aludingi unyango olungxamisekileyo, ngaphandle kokuba banobunzima bokulawula izihlunu zabo zemilenze nokuwa. Ukuba uyawa, kufuneka ufune uncedo lwezonyango ukuba kukho umngcipheko wokwenzakala entloko , entanyeni, okanye emqolo . Oku kungenxa yokuba i-CMT inokubangela iingxaki ezinkulu ukuba nayiphi na inxalenye yenkqubo yakho yemithambo-luvo yonakele.

Eminye imibuzo emincinci embalwa...

Ingaba isifo sikaShaklo-Marie-Tooth sisifo esifanayo neseMultiple Sclerosis (MS)?

Hayi. I-Multiple sclerosis (MS) yimeko apho i-myelin sheath ejikeleze ii-neurons ebuchotsheni nakwi-spinal cord ivuvukala khona. Ezinye iintlobo ze-CMT zineempawu ezifanayo, kodwa ngaphandle koko, ezi zimbini ziimeko ezahlukeneyo kakhulu.

Ngaba i-CMT sisifo sokuzikhusela komzimba?

Hayi, i-CMT ayisosifo sokuzikhusela komzimba. Nangona kunjalo, utshintsho oluthile kwi-gene ye-PMP22, edla ngokubangela i-CMT, lunokunyusa umngcipheko wokufumana izifo ezithile zokuzikhusela komzimba.

Ngaba isifo se-CMT siyayichaphazela ingqondo?

Ngokubanzi, i-CMT ayichaphazeli ngqo ingqondo . I-CMT ichaphazela kakhulu ii-neurons ezinde kunye nee-nerve fibers. Ezi zifumaneka kwi-spinal cord kunye ne-peripheral nerves, kungekhona ebuchosheni. Ezinye iintlobo ze-CMT zinokubangela utshintsho oluncinci kwisakhiwo sobuchopho, kodwa iingcali azikafumani ukuba oku kunempembelelo ebalulekileyo, exhalabisayo ekusebenzeni kwengqondo.

Izinto ezibalulekileyo ekufuneka sizikhumbule kwizinto esizithethileyo (Umyalezo Wokubuyela Ekhaya)

Isifo sikaChaucer-Marie-Tooth (CMT) liqela leemeko ezichaphazela inkqubo yakho yemithambo-luvo ejikeleze umzimba, uthungelwano lwemithambo-luvo edibanisa ingqondo yakho kunye nomqolo. Esi sifo sichaphazela kakhulu amandla akho okulawula intshukumo yemisipha kunye nendlela oziva ngayo kwaye uqonda ngayo ihlabathi elikujikelezileyo. Abantu abaninzi abanale meko bafuna izixhobo zokuncedisa okanye izixhobo. Abanye badinga utyando okanye izinto ezifana nonyango lomzimba okanye unyango lomsebenzi.

Nangona kunjalo, i-CMT ayisoloko iyingozi okanye isongela ubomi. Uninzi lwabantu abanayo baphila ubomi obuqhelekileyo, kwaye baphila ubomi obonwabisayo nobanelisayo. Into ebalulekileyo kukukhumbula ukuba awuwedwa kwaye ungafumana uncedo lokuphila ngempumelelo nale meko. Ukuba unemibuzo okanye iinkxalabo malunga noku, qiniseka ukuba uthetha nogqirha.

UShako -Marie-Tooth, i-CMT, Izifo ze-Neurological, Izifo ze-genetic, Ubuthathaka bemisipha, I-peripheral neuropathy, ii-Neurons