Wetin na Charcot-Marie-Tooth Disease (CMT)? Lɛ wi tɔk bɔt am simpul wan!

Sɔntɛnde, yu kin fil lɛk se yu an ɛn fut dɛn kin swɛla smɔl, ɔ yu mɔsul dɛn kin wik smɔl? Sɔntɛm yu leg dɛn kin tandul we yu de waka, ɔ yu kin fil lɛk se yu leg dɛn shep smɔl? Wan pan de rizin fɔ dɛn tin ya na Charcot-Marie-Tooth Disease (CMT) , we wi go tɔk bɔt tide. Dis nem kin tan lɛk se i strenj smɔl, bɔt i rili impɔtant fɔ no bɔt am.

So, wetin na dis Shako-Marie-Tooth (CMT)?

Fɔ tɔk am simpul wan, CMT na wan sik we de afɛkt di nɛv dɛn we de kɔntrol wi bɔdi in mɔsul dɛn. Na wan jenɛtik muteshɔn kin mek i bi mɔ. Dis min se yu kin gɛt dis jin frɔm yu mama, yu papa, ɔ ɔl tu.

CMT na wan pan di mכst kכmכn jεnεtik pεrifεral nyuropathy . "pεrifεral nεv dεm" de tכk bכt כl di nεv dεm we de branch kכmכt frכm wi bren εn spεnal kכd (dat na di sεntri nεv sεstem). Dɛn nerv ya tan lɛk di rod dɛn we de kɔmɔt na di men siti dɛn na wi kɔntri to rimot eria dɛn. Dɛn nɛv ya na dɛn kin kɛr tin dɛn we wi kin fil to wi an ɛn fut dɛn, finga dɛn, ɛn mɔsul dɛn.

Udat dɛn kin gɛt dis sik pas ɔlman?

Dis kayn sik wae dɛn kɔl CMT kin afɛkt pipul dɛm wae gɛt ɛni trayb ɔr etnik grup. I kin afɛkt man ɛn uman ikwal. Bɔt dɛn kin tek am se na sik we nɔ kin bɔku ɔlsay na di wɔl. Risach dɔn sho se na lɛk wan milyɔn pipul dɛn ɔlsay na di wɔl de sɔfa wit dis sik.

Aw CMT kin afɛkt wi bɔdi?

Fɔ ɔndastand dis, wi nid fɔ no smɔl fɔs bɔt wi nɛv sɛl dɛn, ɔ nyuron dɛn . Nyurɔn dɛn tan lɛk smɔl mɛsenja dɛn we de kɛr infɔmeshɔn rawnd wi bɔdi.

Smɔl mɔ bɔt nyuron dɛn

Ɛni nyuron gɛt sɔm men pat dɛn:

• di sεl bכdi: Dis lεk di men kכntrol sεnta fכ di nyuron.
• Axon: Dis na di lכng pat we lεk an we de kכmכt kכmכt na di sεl bכdi. Tink bɔt am lɛk ilɛktrik waya. Dis na di say we ilɛktrik signal dɛn kin travul. na di εnd pan di aksכn de sכm sכm tin dεm we lεk fכ finga dεm we dεn k כl sinaps . dis sinaps dεm de kכnvכlt ilektrikal signal dεm to kεmikכl signal dεm εn pas infכmeshכn to כda nyuron dεm we de nia.
• Dendrites: Dis na sכm sכm branch dεm we lεk branch we de kכmכt frכm di sεl bכdi. Dɛn gi dɛn nem so bikɔs dɛn tan lɛk tik in branch dɛn. dis dεndrit dεm de gεt kεmikכl signal frכm כda nyuron dεm.
• Maylin: Dis na di fεt sεt we de protεkt we de rawnd di aksכn dεm fכ mכst nyuron dεm. I tan lɛk di plastic we de kɔba rawnd ilɛktrik waya. dis maylin sεt de alaw signal dεm fכ travul along di aksכn kwik kwik wan.

naw, insay CMT sik, dεn nyuron dεm ya de pwεl tu men we dεm.

1. Maylin we de lɔs:sכmtεm CMT kin pwεl dis maylin sεt. Ɔ maylin nɔ kin fɔm fayn fayn wan fɔs. Bɔt dis kin mek di spid we di nerve signal dɛn de travul slo. I tan lɛk waya we gɛt brok brok plastic we de kɔba kɔrɛnt we de lik.

2. di aksכn prכblεm dεm: we di aksכn dεm bigin fכ shrink כ wik bikoz fכ CMT, di trεnk fכ di signal dεm we de pas tru da nyuron de dכn.

pan sɔm kayn CMT, di spid we di nεv signal dεm de spid de rεdכks sכmtεm, bכt dat na infεkt fכ mek yu gεt di simptom dεm. Bɔt i at fɔ tɔk fɔ tru if di prɔblɛm de wit di maylin ɔ di aksɔn. di masta sabi pipul dεm kin kכl dεn kayn "intamεdiεt" tכyp dεm.

Nɔto ɔl di nyuron dɛn na wi bɔdi gɛt di sem lɔng ɔ saiz. di lכng nyuron dεm we de rכn along wi spεnal kכd to wi leg εn fut na dεn wan dεm we dεn afekt fכs insay CMT . De an ɛn an kin afɛkt bak, bɔt dis nɔr kin apin kwik kwik wan na di sik.

Wetin na di sayn dɛm fɔ CMT sik?

Di sayn dɛm fɔ CMT kin bigin we dɛn yɔŋ, lɛk tɛn ɔ twɛlv ia . Bɔt dɛn kin bigin bifo tɛm, we dɛn smɔl, ɔ we dɛn dɔn ol. De sayn dεm kin apun sכmtεm, sכmtεm dεn kin bכku as tεm de go.

Tu men kayn simptom dεm de na CMT, i dipכnt pan us nεv signal dεm de afekt. Dɛn kɔl dɛn signal ya motoka ɛn sɛns .

• di mכtal signal dεm: Dis na di signal dεm we de kכmכt na wi bren to wi mכsul dεm. dis signal dεm de tεl wi mכsul dεm fכ "muv ya εn de." So, we prɔblɛm de wit di transmishɔn fɔ dɛn motoka signal ya, wi nɔ kin ebul fɔ kɔntrol wi mɔsul dɛn fayn fayn wan. Ɛspɛshali na wi an ɛn fut dɛn.
• Di mɔsul dɛn we wik.
• Sɔntɛm tin dɛn lɛk paralayz .
• di mכsul atrofi na di shrink we di mכsul tisu de shrink .
• Riflεks dεm we dεn dכn dכn כ lכs.
• Fɔ ɛgzampul, di fut dɛn we nɔ fayn, wan sik we dɛn kɔl hama fut .
• Fut dכp , we min se yu nכ ebul fכ es di fut in sכl εn mek i fכl dכn, כ di arch fכ di fut de go tu ay.
• Trip ɛn fɔdɔm bɔku tɛm bikɔs ɔf di chenj dɛn we de apin na di we aw pɔsin de waka ( gait disorders ).
• Di anklɛ we kin swɛt bɔku tɛm .
• I nɔ kin izi fɔ yu fɔ blo (dɛn kin si dis nɔmɔ pan siriɔs kes dɛm).

• Sεns signal dεm: Dis na di signal dεm we de go na di bren frכm difrεn pat dεm na wi bכdi. dis signal dεm de tεl di bren se, "Dis de fil lεk dis." So, we prכblεm de wit dεn sens signal dεm ya, wi kin gεt chenj dεm na di sens dεm na wi lכw leg, fut, εn an dεm.
• Yu nɔ de fil fayn ɔ yu de swɛt .
• Nɔr kin fil fɔ wam ɔr de fil pen na yu leg, fut, ɔr an.
• Wan filin lɛk sɔntin de kray na mi leg dɛn.
• Pen we nɔ de dɔn .
• di dכn כ lכs fכ sεns na כda sεns dεm, spεshal wan fכ si εn yεri (dεn tin ya nכ rili kכmכn, dεn nכ de si am pan sכm sכbtayp dεm na CMT).

Wetin kin mek pɔsin gɛt CMT?

Ɛvri nɛv sɛl na wi bɔdi gɛt sɔntin we dɛn kɔl DNA . Dis DNA tan lɛk buk we de sho aw fɔ du sɔntin. na dis DNA de gi di sεl dεm instrכkshכn fכ du dεn wok fayn fayn wan. Wan jenɛtik muteshɔn tan lɛk mistek we dɛn mek na lɛta we de na dis DNA instrɔkshɔn buk. wi sεl dεm de fala di instrכkshכn dεm we de insay dis DNA εksakכt. So, bikɔs ɔf dɛn kayn chenj dɛn ya, di sɛl dɛn kin bigin fɔ wok di rayt we. Na so CMT de divɛlɔp.

CMT kin kכz bay mכtεshכn insay wan jin כ bay mכtεshכn insay plεnti jin dεm. Naw, di wan dɛn we de stɔdi bɔt dis dɔn no bɔku bɔku tin dɛn we kin chenj na di jɛnɛtiks we kin mek pɔsin gɛt difrɛn kayn CMT.

Tu men we dɛn de fɔ mek yu gɛt DNA muteshon:

• Inherited: Yu kin gɛt dɛn DNA mutation ya frɔm yu mama, yu papa, ɔ ɔl tu.
• Sכmכt: dεn mכtεshכn dεm ya kin apin we yu de divεlכp lεk pikin na yu mama in bεlε. sכmtεm dεn kin kכl dis "de novo" mכtεshכn, we min "nyu."

Difrɛn kayn CMT dɛn de?

Yɛs, sɛvin men kayn CMT dɛn de. כltu, CMT tayp 1 (CMT1) εn CMT tayp 2 (CMT2) na dεn mכst kכmכn. Di ɔda kayn dɛn nɔ bɔku.

• CMT tayp 1 (CMT1): Dis kayn de afekt maylin, so di signal dεm de travul sloslo. Bɔrku tɛm, de sik kin kam bitwin 10 ɛn 40 ia. Bɔt sɔm pipul dɛn kin nɔr gɛt dis sik fɔ lɔng lɔng tɛm. Dis na di kayn CMT we kɔmɔn pas ɔl. I kɔmɔn lɛk tu tɛm pas CMT2.
• CMT2: Dis kayn de afekt di aksכn dεm. Di nerve signal dεm wik εn i kin travul sכmtεm sכmtεm. Na lɛk wan pat pan tri pan di wan dɛn we gɛt CMT kin fɔdɔm pan dis kayn.

Apat frɔm dis, ɔda kayn CMT dɛn de:

• CMT3 (dɛn kin kɔl am bak Dejerine-Sottas sik ).
• CMT X-linked (CMTX) we gɛt fɔ du wit am.
• Dominant Intɛrmɛdiɛt CMT (CMTDI).
• Risesiv intamεdiεt CMT (CMTRI).

Dis na sik we pɔsin kin pas?

Nɔ, CMT nɔto sik we pɔsin kin pas. I nɔ go ebul fɔ skata frɔm wan pɔsin to ɔda pɔsin.

Aw dɛn kin no di CMT sik kɔrɛkt wan?

Fɔ no uskayn CMT yu gɛt ɛn aw i bad, bɔku tɛm dɔktɔ kin gɛt fɔ yuz bɔku we dɛn, lɛk fɔ chɛk yu bɔdi ɛn yu nyurolɔjik ., tɛst dɛn we dɛn kin du na lɛbɔtri, tɛst dɛn we dɛn kin du fɔ tek pikchɔ, ɛn ɔda tɛst dɛn we dɛn kin du fɔ no if pɔsin gɛt di sik. Di dɔktɔ go aks yu bak bɔt yu famili mɛdikal histri, yu sayn dɛm, ɛn aw yu de liv yu layf.

Us kayn tɛst dɛn kin du fɔ dis?

If yu sɔspɛkt se yu gɛt CMT, yu go gɛt dɛn tɛst ya:

• Electromyogram (EMG) , spεshal tεst dεm fכ di nεv kכndukshכn , de mכsu aw yu nεv dεm de kכndukt signal dεm kwik εn trכng.
• Jεnεtik tεst: Dis kin no if jεnεtik mכtεshכn de we de mek CMT.
• spεnal tap / lכmba pankshכn: dεn kin yuz dis fכ egzamin di sεribrospεnal fכluid. Dɛn nɔ kin du dis fɔ ɔlman.
• Magnɛtik Rizɔnans Imej (MRI) .
• Ultrasound egzamin.
• Evoked potential tests: Dis de ɛp fɔ si if sɔm kayn CMT de, mɔ di wan dɛn we de afɛkt di we aw pɔsin de yɛri ɛn si.
• Nɛv bayɔpsi: Dɛn nɔ kin du dis bɔku tɛm. I min fɔ tek wan smɔl pat pan wan nerv ɛn chɛk am.

Wetin na di tritmɛnt dɛm fɔ CMT? Yu tink se dɛn go ebul fɔ mɛn am kpatakpata?

Fɔ tɔk tru, naw, no we nɔ de fɔ mɛn CMT ɔltogɛda ɔ fɔ trit di sik dairekt wan . Bɔt, dɛn kin trit di sayn dɛm ɛn di tin dɛm wae kin kam wit dis sik.

Us kayn mɛrɛsin/tritmɛnt dɛn kin yuz?

Di tritmɛnt dɛn we dɛn kin yuz mɔ fɔ CMT na:

• Fizik tritmɛnt ɛn ɔkupeshɔn tɛrapi: Dɛn tin ya kin ɛp yu fɔ mek yu mɔsul dɛn strɔng, yu balans fayn, ɛn mek i izi fɔ du ɛvride.
• Di tin dɛn we kin ɛp pɔsin fɔ muv lɛk leg bres, pɔsin we de waka , ɛn wilchia .
• Speshal shuz we de adap to chenj na di shep na di fut.
• Ɔpreshɔn fɔ kɔrɛkt di chenj dɛn we de na di shep na di an, leg, hip, ɔ bak.
• Mɛrɛsin fɔ sɔm sayn dɛm, mɔr lɛk pen wae nɔr de dɔn.

Ɔda tritmɛnt dɛn de fɔ CMT, bɔt dɛn kin difrɛn difrɛn wan bay di patikyula sɔbtayp fɔ di sik. Yu dɔktɔ go ebul fɔ advays yu bɔt us tritmɛnt dɛn go ɛp yu mɔ, bikɔs dɛn kin mek di infɔmeshɔn to yu patikyula kɔndishɔn ɛn wetin yu nid.

Yu dɔktɔ go tɛl yu mɔ bɔt di sayd ɛfɛkt ɛn prɔblɛm dɛn we kin apin wit difrɛn tritmɛnt dɛn, ɛn aw lɔng i go tek fɔ mek yu wɛl ɛn kam bak to nɔmal layf.

Wetin yu kin ɛkspɛkt we yu de liv wit CMT? Wetin go apin tumara bambay?

Jɛnɛral wan, CMT nɔto rili denja kɔndishɔn.. Bɔt sɔm pan di smɔl kayn sik dɛn we kin rili bad kin mek pɔsin in layf de pan denja. Bɔrku pipul dɛm wae gɛt CMT kin gɛt prɔblɛm fɔ waka, muv, ɔr kin gɛt sɔm kayn sɛns. Bɔt dɛn tin ya nɔ kin mek dɛn layf shɔt. Wit spɛshal ɛp divays, mɔ di fut ɛn anklɛ bres ɔ sus, bɔku pipul dɛn we gɛt CMT kin liv nɔmal layf ɛn liv gladi, fulfil layf.

Mɛmba se yu kin liv gud layf ivin wit CMT. Ɔl wetin yu nid na fɔ gɛt di rayt advays ɛn sɔpɔt we yu go gi yu.

Na di kayn sik wae kin pasmak, de tin wae de denja pas ɔl na wae di mɔsul dɛm wae de kɔntrol aw pɔrsin de blo ɛn swɛla, wik. Dis kin mek i nɔ ebul fɔ blo fayn , nyumonia, ɛn ivin tin dɛn we kin mek i day. Dɛn siriɔs tin ya kin apin mɔ if di CMT simptom bigin ali na layf, mɔ we dɛn smɔl.

Aw lɔng CMT kin las?

CMT na tin we pɔsin kin gɛt we go de sote go ɛn we go de fɔ ɔl in layf . Dɛn bɔn yu wit am, bɔt bɔrku pipul nɔr kin gɛt dis sik te dɛn big. Naw, no mɛrɛsin nɔ de fɔ am, ɛn i nɔ kin bɛtɛ fɔ insɛf.

I gɛt we fɔ mek CMT nɔ divɛlɔp?

Shaklo-Marie-Tooth sik na tin wae yu kin gɛt ɔr sɔmtin wae kin apun wae yu nɔr bin de ɛkspɛkt. So, no we nɔ de fɔ mek i nɔ gɛt am ɔ fɔ ridyus di risk fɔ gɛt am .

Pan ɔl we dɛn nɔ go ebul fɔ stɔp CMT, fɔ tɛst yu jɛnɛtiks ɛn advays kin ɛp yu fɔ no if yu pikin dɛn de pan denja fɔ gɛt am. Yu dɔktɔ ɔ pɔsin we de advays yu bɔt yu jɛnɛtiks kin tɛl yu mɔ bɔt dis.

Wetin kin apin if pɔsin we gɛt CMT gɛt bɛlɛ?

Bɔrku pipul dɛm wae gɛt CMT kin gɛt pikin dɛm. Bɔt sɔm prɔblɛm dɛn kin apin ɔ dɛn kin apin mɔ. Bɔku bɛlɛ uman dɛn we gɛt CMT kin nid ɛkstra kia we dɛn gɛt bɛlɛ ɔ we dɛn de bɔn pikin. Dɛn kin gɛt bak di risk smɔl fɔ mek dɛn blɔd afta dɛn bɔn pikin.

Yu dɔktɔ go tɛl yu mɔ bɔt if dis kin apin to yu ɛn wetin yu kin du. Dɛn kin rifer yu to spɛshal dɔktɔ dɛn, mɔ di dɔktɔ dɛn we de mɛn mama ɛn pikin we spɛshal pan kɔmpleks bɛlɛ.

Aw a go tek kia ɔf misɛf ɛn kɔntrol mi sik dɛn?

If yu gɛt CMT, yu dɔktɔ na di bɛst say fɔ no bɔt wetin yu kin du ɛn fɔ du fɔ kia fɔ yusɛf ɛn fɔ mɛn dis sik. Dɛn kin wach aw yu sik de go bifo ɛn dɛn kin tɛl yu aw fɔ trit yu ɔr aw fɔ ɛp yu.

Bɔku tɛm, yu fɔ du dɛn tin ya:

• Si yu dɔktɔ lɛk aw dɛn tɛl yu. Dis na impɔtant tin bikɔs yu dɔktɔ kin si aw yu sik de go bifo ɛn aw i de afɛkt yu. Dɛn kin ebul fɔ chenj yu tritmɛnt plan ɔr kin gi advays bɔt tin dɛm wae go ɛp yu.
• Fɔ fala yu tritmɛnt plan di rayt we. Dis min se yu fɔ tek yu mɛrɛsin ɛn yuz yu mɛrɛsin ikwipmɛnt lɛk aw yu dɔktɔ tɛl yu. Dɛn tin ya rili impɔtant, bikɔs dɛn kin ɛp yu fɔ gɛt rilif frɔm yu sik ɔr slo fɔ mek sɔm sik dɛn de wɔs.
• Nɔ tek drɔgs ɔ tin dɛn we de ambɔg di nervɔs sistɛm (nyurotoxic substances). Dis na tin dɛm wae gɛt bɔrku risk fɔ pwɛl yu nervɔs sistɛm. Yu dɔktɔ go mɔs tɛl yu fɔ stɔp ɔ stɔp fɔ drink rɔm ɔltogɛda. Bikɔs if pɔsin drink bɔku rɔm, i kin pwɛl di nervɔs sistɛm bak.

Ustɛm yu fɔ go to dɔktɔ? Ustɛm dɛn nid fɔ gɛt tritmɛnt kwik kwik wan?

Yu dɔktɔ go schedul fɔ go fɔ fala yu ɔltɛm fɔ wach yu kɔndishɔn ɛn di sayn dɛm. Dɔn bak, if yu notis ɛni chenj na yu sik, mɔ if i de ambɔg yu nɔrmal tin fɔ du, yu fɔ go to yu dɔktɔ.

Ustɛm yu fɔ go na ɔspitul (ETU) fɔ gɛt imejensi tritmɛnt?

Bɔrku pipul dɛm wae gɛt CMT nɔr nid imejensi tritmɛnt, pas nɔmɔ dɛn gɛt prɔblɛm fɔ kɔntrol dɛn leg mɔsul dɛm ɛn fɔdɔm. If yu fɔdɔm, yu fɔ go to dɔktɔ if ɛnitin de we go mek yu wund na yu ed , yu nɛk, ɔ yu bak . Dis na bikɔs CMT kin mek yu gɛt siriɔs prɔblɛm if ɛni pat pan yu sɛntral nɛvɔ sistɛm dɔn pwɛl.

Sɔm ɔda smɔl smɔl kwɛstyɔn dɛn...

Yu tink se Shaklo-Marie-Tooth sik na di sem kayn sik lɛk Multiple Sclerosis (MS)?

n כ. Sɔm kayn CMT gɛt di sem kayn sik, bɔt apat frɔm dat, di tu tin dɛn na rili difrɛn kɔndishɔn.

CMT na ɔtoimyun sik?

Nɔ, CMT nɔto sik we pɔsin kin gɛt we i de fɛt insɛf. כltu, sכm mכtεshכn dεm na di PMP22 jin, we kin mek CMT bכku tεm, kin inkrεs di risk fכ divεlכp sכm כtoimyun sik dεm.

Yu tink se CMT sik kin afɛkt di bren?

Jɛnɛral wan, CMT nɔ de afɛkt di bren dairekt wan . CMT kin afekt di lכng nyuron dεm εn di nεv fayb dεm mכst. dis dεm de na di spεnal kכd εn di pεrifεral nεv dεm, nכto na di bren. Sɔm sɔbtayp dɛm fɔ CMT kin mek smɔl chenj dɛn na di strɔkchɔ na di bren, bɔt masta sabi pipul dɛn nɔ dɔn si yet se dis gɛt impɔtant, wɔri ifɛkt pan di bren wok.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt (Take-Home Message) .

Chaucer-Marie-Tooth disease (CMT) na wan grup wae de afekt yu peripheral nervous system, di netwok of nerves wae de konekt yu bren en spinal cord. Dis sik kin mɔs afɛkt yu ebul fɔ kɔntrol di mɔsul dɛn we de muv ɛn di we aw yu de fil ɛn si di wɔl we de arawnd yu. Bɔrku pipul dɛm wae gɛt dis sik nid tin fɔ ɛp ɔr tin fɔ yuz. Sɔm kin nid ɔpreshɔn ɔ tin dɛn lɛk fyzikal tritmɛnt ɔ wok tɛrapi.

Bɔt, CMT nɔ kin bi wan sik we denja ɔ we kin mek pɔsin in layf de pan denja. Bɔrku pipul dɛm wae gɛt am kin liv nɔrmal layf, ɛn liv gladi, fulfil layf. De impɔtant tin na fɔ mɛmba se nɔr de yu wan ɛn yu kin gɛt ɛp fɔ liv fayn fayn wan wit dis sik. If yu gɛt ɛni kwɛstyɔn ɔ wɔri bɔt dis, mek shɔ se yu tɔk to dɔktɔ.

` Shako-Marie-Tooth, CMT, Nyurolכjik sik dεm, Jεnεtik sik dεm, Mכsul wik, Pεrifεral nyuropati, Nyurכn dεm