Ngaba nawe unezihlunu ezibuthathaka emagxeni nasemaqakaleni? Makhe sithethe nge-Limb-Girdle Muscular Dystrophy (LGMD)!

Ngaba ngamanye amaxesha uziva ngathi amahlombe akho, iingalo, okanye izinqe zakho zibuthathaka kancinci? Ngaba ukufumanisa kunzima ukuphakama esitulweni okanye ukunyuka izinyuko? Ngaba ngamanye amaxesha uziva ngathi iingalo zakho zibuthathaka xa uphakamisa into enzima? Oku kusenokungabi kukudinwa nje emzimbeni. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu. Oku kubizwa ngokuba yiLimb-Girdle Muscular Dystrophy , okanye i-LGMD ngamafutshane.

Yintoni iLimb-Girdle Muscular Dystrophy (LGMD)?

Ngamafutshane, i-Limb-Girdle Muscular Dystrophy ligama eliqhelekileyo leqela leemeko ezizuzwe njengelifa eziye zibuthathaka kancinci kancinci izihlunu ezithile emizimbeni yethu. Yimeko engapheliyo , oko kuthetha ukuba inokuhlala ubomi bonke. Inokuchaphazela nabani na walo naliphi na ubudala.

"Iibhande zemilenze" ngamathambo ajikeleze amagxa ethu kunye nezinqe. Njengamalungu adibanisa iingalo zethu kunye nemilenze kunye nomzimba wethu. Ngoko ke kule meko ``(LGMD)``, izihlunu ezinxulumene nezi ndawo zamagxa kunye nezinqe zichaphazeleka kakhulu.

Usenokuba ukhe weva igama elithi ``muscular dystrophy.'' Libhekisa kwiqela leemeko zemfuza ezichaphazela ukusebenza kwezihlunu. Kwiintlobo ezininzi ze-``muscular dystrophy,'' iimpawu ziya zisiba mandundu kancinci kancinci ngokuhamba kwexesha.

Ixhaphake kangakanani le meko ibizwa ngokuba yi-LGMD?

Enyanisweni, i-`(Limb-Girdle Muscular Dystrophy)` sisifo esingaqhelekanga kakhulu . Khawucinge nje, kwilizwe elifana neMelika, xa udibanisa zonke ezi ntlobo ze-`(LGMD)`, ichaphazela abantu abamalunga nabantu ababini kuphela kwikhulu lamawaka. Ukuba uyithelekisa ne-`(Duchenne muscular dystrophy)` esiyaziyo nesithetha ngayo ngakumbi (le ikwaluhlobo lwe-`muscular dystrophy`), ichaphazela malunga nomnye wamakhwenkwe angama-3600 eMelika. Ngoko ke i-`(LGMD)` ayixhaphakanga kangako.

Phakathi kwezi ntlobo ze-`(LGMD)`, uhlobo oluqhelekileyo eMelika yi-`(LGMD R1 calpain3-related)`. Oku kukwabizwa ngokuba yi-`(calpainopathy)`. Phakathi kwe-12% kunye ne-30% yazo zonke izigulane ze-`(LGMD)` zilolu hlobo.

Zeziphi iimpawu esizibonayo?

Iimpawu eziphambili zeLimb-Girdle Muscular Dystrophy kubuthathaka bemisipha kunye nokuphelelwa ngamandla kwemisipha okanye ukudinwa . Oku kuchaphazela ngokukodwa:

• Ukuya emagxeni
• Kwiingalo eziphezulu (inxalenye yengalo yethu ukusuka egxalabeni ukuya engqinibeni)
• Kwindawo yesinqe
• Kwimilenze (inxalenye yemilenze yethu ukusuka esinqeni ukuya edolweni)

Ubudala apho iimpawu ziqala khona, kunye nokuba ezi mpawu ziqhubeka ngokukhawuleza kangakanani, zinokuhluka ukusuka kuhlobo oluthile lwe-LGMD ukuya kolunye.

Iimpawu zokuqala zale meko kukuhamba nzima . Umzekelo:

• Intshukumo yokudada isenokukhula, efana nendlela idada elihamba ngayo .
• Ukusuka kwindawo yokuhlala, njengesitulo okanye isihlalo sendlu yangaseseKunzima ukuvuka .
• Ubunzima bokunyuka izinyuko .

Kwakhona, xa izihlunu emagxeni nakwiingalo ezingentla zibuthathaka, izinto ezinje zinokwenzeka:

• Ubunzima bokufikelela ngaphezu kwentloko . Cinga ngayo njengokukhupha into eshelufini.
• Kunzima ukubamba iingalo zakho phambi kwakho .
• Ukungakwazi ukuphakamisa izinto ezinzima .
• Abanye abantu banokufumana kunzima ukusebenzisa izandla zabo nokutya .

Ezinye iintlobo ze-LGMD zinokuba neempawu ezongezelelweyo ukongeza kwezi. Ezinye zazo ziquka:

• Iingxaki zentliziyo : Umzekelo, izinto ezinje ngobuthathaka bemisipha yentliziyo (cardiomyopathy), ukungaqheleki kokuqhuba, okanye i-arrhythmias.
• Ubunzima bokuphefumla .
• Ubunzima bokuginya ukutya (dysphagia) .
• Ukugoba , oko kuthetha ubunzima ekugobeni nasekuvulekeni kwamalungu.
• Ukuqaqamba kwemisipha .
• Ukuqina kwemisipha : Ngamanye amaxesha, nangona izihlunu zibuthathaka, zinokubonakala zinkulu ngaphandle.
• Ubuthathaka kwimisipha ekude, njengeengalo nemilenze .

Ngaba oku kungabangela iingxaki ezinkulu?

Ewe, ngamanye amaxesha i-LGMD inokubangela iingxaki ezithile. Kodwa ayifani kuye wonke umntu. Kukho izinto ezininzi ezinokuyichaphazela:

• Loluphi uhlobo lwe-`(LGMD)` onalo?
• Ziqale nini ubudala ezi mpawu kwaye isifo sikhula ngokukhawuleza kangakanani.
• Uneendawo ezifanelekileyo zokhathalelo lwezonyango kunye nolawulo lweempawu.

Ezinye zeengxaki ezinokubakho zezi:

• Ukuba i-LGMD iqala ebuntwaneni, inokukhokelela ekulibazisekeni kwezakhono zomzimba ezifana nokuhamba .
• Ezinye iintlobo zinokubangela ukukhubazeka kwengqondo kunye nobunzima bokufunda .
• I-Kyphosis kunye/okanye i-scoliosis inokubonwa, ingakumbi kwi-LGMD eqala ebuntwaneni.
• Ukusebenza kakuhle kwemiphunga kunokuphazamiseka, nto leyo ekhokelela kwisifo semiphunga esithintelweyo , mhlawumbi ukungakwazi ukuphefumla kakuhle okanye ukungaphumeleli kokuphefumla .
• Ukungondleki kakuhle kunokwenzeka ngenxa yobunzima bokutya nokuginya.

Kutheni oku kusenzeka? Yintoni unobangela?

Eyona nto ibangela i-Limb-Girdle Muscular Dystrophy kukuguquka kwezakhi zofuzo.Ezi jini zinoxanduva lokugcina ulwakhiwo lwezihlunu kunye nokusebenza kwazo okusempilweni. Ngoko ke xa kukho utshintsho kwezi jini, iiseli ezimele ukugcina izihlunu azikwazi ukwenza loo msebenzi ngokufanelekileyo. Ngenxa yoko, izihlunu ziba buthathaka kancinci kancinci ngokuhamba kwexesha. Kukho utshintsho oluthile lwezakhi zofuzo olunxulumene nohlobo ngalunye lwe-`(LGMD)`.

Olu tshintsho lwemfuza lufunyanwa ngabazali bethu. I-LGMD yahlulwe yangamacandelo amabini aphambili, kuxhomekeke kwindlela ezi mfuza ezizuzwa ngayo:

• Iqela le-LGMD D : Ezi zenzeka ngendlela ebizwa ngokuba yi-"autosomal dominant inheritance." Oku kuthetha ukuba utshintsho lwezakhi zofuzo olubangela esi sifo lunokukhula nokuba ngumzali omnye kuphela osizuza njengelifa.
• Iqela le-LGMD R : Ezi zenzeka ngendlela ebizwa ngokuba yi-``autosomal recessive inheritance``. Oku kuthetha ukuba utshintsho lwemfuza olubangela esi sifo kufuneka lufunyanwe ngabazali bobabini.

Ngaba kukho iintlobo ezahlukeneyo ze-LGMD?

Ewe, kukho iintlobo ngeentlobo ezahlukeneyo ze-`(Limb-Girdle Muscular Dystrophy)`. Abaphandi kunye noogqirha basebenzisa isakhiwo esikhethekileyo sokubiza amagama ukwahlula ezi ntlobo ngeentlobo. Siqulathe oonobumba "LGMD" kunye nezinye izinto ezimbalwa:

• Indlela ii-genes ezizuzwa ngayo : Unobumba u-"D" umele `(i-autosomal dominant inheritance)`. Unobumba u-"R" umele `(i-autosomal recessive inheritance)`.
• Ulandelelwano lokufunyanwa : Abaphandi banika ezi ntlobo zincinci inani ngokulandelelana kwazo.
• Iproteni okanye ijini echaphazelekayo : Oku kuboniswa njenge-"[ijini okanye igama leproteni]-enxulumene". Umzekelo, `(i-calpain3-enxulumene)`.

Kukho iintlobo ezahlukeneyo zale nto. Kunzima ukuchaza nganye, ngoko ke asizukuchaza iinkcukacha. Kodwa ugqirha wakho angakuxelela okungakumbi ngale nto.

Oogqirha bayibona njani le nto?

Ukuba wena okanye umntwana wakho nirhanelwa ukuba nineempawu zeLimb-Girdle Muscular Dystrophy, ugqirha uya kwenza uvavanyo lomzimba , uvavanyo lwemithambo-luvo , kunye novavanyo lwemisipha . Baza kukubuza ngeempawu zakho kunye nokuba kukho nabani na kusapho lwakho okhe waba nezi ngxaki.

Ukuba ukrokrela ukuba une-LGMD, olunye okanye ngaphezulu kwezi vavanyo zilandelayo lunokucetyiswa:

• Uvavanyo lwegazi lwe-Creatine kinase : Xa izihlunu zonakele, i-enzyme ebizwa ngokuba yi-``creatine kinase`` ikhutshwa egazini. Ngoko ke ukuba inqanaba layo liphezulu, inokuba luphawu lwemeko ebizwa ngokuba yi-``muscular dystrophy```.
• Uvavanyo lwemfuza : Olu vavanyo lunokuchonga utshintsho lwemfuza oluhambelana nezinye iintlobo ze-LGMD. Le yindlela yokuqinisekisa ukuba loluphi uhlobo lwe-LGMD onalo .
• i-biopsy yemisipha: Oku kuquka ukuthatha isampuli encinci yezicubu zakho zemisipha uze ufumane ingcali eyihlola phantsi kwe-microscope. Oku kunokukunceda ubone ukuba uneempawu ze-muscular dystrophy.
• I-Electromyography (EMG) : Olu vavanyo lulinganisa umsebenzi wombane wezihlunu kunye nemithambo-luvo.

Ukuba wena okanye umntwana wakho nifunyaniswe ukuba nine-LGMD, ugqirha wakho uhlala eyalela uvavanyo lwentliziyo kunye nokusebenza kwemiphunga ukujonga ukuba intliziyo kunye nemiphunga yakho isebenza kakuhle kangakanani na. Kubalulekile ukwazi ukuba imeko ichaphazele na loo malungu omzimba.

Zithini iindlela zonyango?

Okubuhlungu kukuba, okwangoku akukho nyango lwe-Limb-Girdle Muscular Dystrophy, kodwa abaphandi bayaqhubeka nokusebenza kulo.

Injongo ephambili yonyango lwangoku kukunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi . Iindlela zonyango zinokwahluka ngokuxhomekeke kuhlobo lwe-LGMD onayo. Ezinye zazo ziquka:

• Unyango lomzimba nolwemisebenzi : Olu nyango lunceda kakhulu ekuqiniseni izihlunu nokwenza umthambo wokuzolula. Lukunceda ufumane iindlela zokwenza imisebenzi yemihla ngemihla ngokulula kwaye ugcine ukuhambahamba.
• IiCorticosteroids : IiCorticosteroids ezifana ne-prednisolone kunye ne-deflazacort zinokunceda ukucothisa ubuthathaka bemisipha, ukuphucula ukusebenza kwemiphunga, ukucothisa iintlungu zomqolo, kunye nokucothisa ukuqhubela phambili kwe-cardiomyopathy. Nangona kunjalo, azisebenzi kuzo zonke iintlobo ze-LGMD. Ziluncedo ngakumbi kwezinye iintlobo, ezifana ne-LGMD R9 FKRP-related.
• Izixhobo zokuncedisa ukuhamba : Izixhobo ezifana neenduku, izixhobo zokuxhasa, izixhobo zokuhamba, kunye nezitulo ezinamavili zenza ukuhamba nokuhamba kube lula, zinceda ukuthintela ukuwa, kwaye zinceda ukunciphisa ukudinwa.
• Utyando : Abanye abaguli be-LGMD banokufuna utyando ukuze kuncitshiswe uxinzelelo kwimisipha eqinileyo kwaye kulungiswe i-scoliosis.
• Ukhathalelo lokuphefumla : Izixhobo zokuncedisa ukukhwehlela kunye nezixhobo zokuphefumla zinokunceda ekwenzeni ukuphefumla kube lula. Ukuba kukho ukungasebenzi kakuhle kokuphefumla, kufuneka kwenziwe i-tracheostomy (ukwenza umngxuma entanyeni ukunceda ukuphefumla) kunye noncedo lokungenisa umoya.
• Ukhathalelo lwentliziyo : Amayeza anjenge-ACE inhibitors kunye/okanye ii-beta-blockers, ukuba aqalwe kwangethuba, anokunciphisa ukuqhubela phambili kwe-cardiomyopathy kwaye athintele ukuphuhliswa kokusilela kwentliziyo. Abenzi bokunciphisa isantya sentliziyo banokunceda ekunyangeni iingxaki zesingqisho sentliziyo kunye nokusilela kwentliziyo.
• Unyango lokuthetha: Olu nyango lunokuba luncedo kwabo banengxaki yokuginya.
• Uvavanyo lwezonyango : Ngokuxhomekeke kuhlobo lwe-LGMD onayo kunye nendawo ohlala kuyo, unokufumana ithuba lokuthatha inxaxheba kuvavanyo olutsha lwezonyango. Kukho inani elikhulayo lovavanyo lwezonyango oluqhubekayo okwangoku kwi-LGMD.

Iqela leengcali lidla ngokufuneka ukuze kulawulwe i-LGMD, kuwe nakumntwana wakho. Aba bangabandakanya iingcali zemithambo-luvo, iingcali ze-physiatrists, iingcali ze-genetics, iingcali zamathambo, iingcali ze-physical therapists, iingcali ze-occupational therapists, iingcali zentliziyo, iingcali ze-pulmonologists, iingcali zengqondo, kunye nabasebenzi bezentlalo.

Injani imbono yomntu one-LGMD?

Kunzima kubaphandi noogqirha ukutsho ngqo ukuba yintoni ingqikelelo yomntu one-LGMD. Kodwa iqela lakho lezonyango liza kukunika ulwazi oluninzi kangangoko malunga noko ungakulindela.

Ngokubanzi, ukuba i-LGMD iqala ebuntwaneni, esi sifo sikhula ngokukhawuleza kwaye iingxaki zinokwenzeka . Nangona kunjalo, ukuba i-LGMD iqala ebudaleni okanye ebudaleni, idla ngokuba ncinci kwaye esi sifo sikhula kancinci .

Ungaphila ixesha elingakanani nale nto?

Umyinge wobomi bomntu one-LGMD uxhomekeke kakhulu ekubeni loluphi uhlobo lwe-LGMD abanalo kunye nokuba lukhula ngokukhawuleza kangakanani . Ngokubanzi, abantu abane-LGMD abafumana iingxaki, ezifana nesifo sentliziyo kunye nobunzima bokuphefumla, banokuba nobomi obufutshane kunabo bangenazo ezo ngxaki.

Ngaba ikho indlela yokuthintela oku?

Ngenxa yokuba i-Limb-Girdle Muscular Dystrophy yimeko yemfuza, okwangoku akukho nto inokwenziwa ukuyithintela .

Ukuba uceba ukuba nabantwana kwaye ukhathazekile ukuba usenokuba udlulisela i-LGMD okanye ezinye izifo zofuzo, kulungile ukuthetha nogqirha wakho malunga neengcebiso zofuzo .

Ukuba une-LGMD, kukho izinto ezininzi onokuzenza ukuthintela okanye ukulibazisa iingxaki nokuphucula umgangatho wobomi bakho:

• Yitya ukutya okunempilo nokunempilo ukuze uthintele ukungondleki kakuhle.
• Sela amanzi amaninzi ukuze uthintele ukuphelelwa ngamanzi emzimbeni kunye nokuqhinwa.
• Yenza umthambo olula ukuya koluphakathi njengoko kucetyisiwe liqela lakho lezonyango.
• Gcina ubunzima bakho busempilweni .
• Kuphephe ukutshaya ukuze ukhusele imiphunga nentliziyo yakho.
• Fumana imigonyo ngexesha elifanelekileyo .

Ndingamkhathalela njani umntu one-LGMD? Okanye ndenze ntoni ukuba ndinayo?

Ukuba une-Limb-Girdle Muscular Dystrophy, okanye ukuba unyamekela umntu onaso, kubalulekile ukukhuthaza nokufuna unyango olungcono kakhulu . Ukwenza njalo kuya kukunceda ugcine umgangatho wobomi ungcono kakhulu.

Wena nosapho lwakho ningajoyina amaqela enkxaso . Oku kuya kuninika ithuba lokudibana nabanye abantu abaye bahlangabezana nezinto ezifanayo nezakho, nithethe nabo, kwaye nabelane ngezimvo. Kuya kuba ngumthombo omkhulu wamandla.

Ndifanele ndimbone nini ugqirha?

Ukuba une-Limb-Girdle Muscular Dystrophy, kufuneka ubone iqela lakho lezonyango rhoqo ukuze ufumane unyango kwaye ujonge iimpawu zakho.

Ukuqonda ukuchongwa kwakho kweLimb-Girdle Muscular Dystrophy (LGMD) kunokuba nzima kakhulu. Kodwa iqela lakho lezonyango linokukunceda uphuhlise isicwangciso solawulo esilungiselelwe iimpawu zakho. Eyona nto ibalulekileyo kukuqinisekisa ukuba ufumana inkxaso oyifunayo kwaye uhlale ugxile kwimpilo yakho . Khumbula, iqela lakho lezonyango lihlala likhona ukukunceda wena nosapho lwakho.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Limb-Girdle Muscular Dystrophy (LGMD) yimeko yemfuza ebangela ukuba izihlunu emagxeni nasemaqakaleni zibe buthathaka kancinci kancinci. Nangona ingaqhelekanga, kubalulekile ukuqaphela iimpawu.

• Iimpawu eziphambili : Ubuthathaka bemisipha emagxeni, ezingalweni eziphezulu, ezinqeni nasemathangeni, ubunzima bokuhamba, kunye nokungakwazi ukuphakamisa iintsimbi.
• Isizathu : Umahluko kwimfuza.
• Unyango : Okwangoku akukho nyango. Injongo kukulawula iimpawu nokuphucula umgangatho wobomi. Unyango lomzimba, unyango lomsebenzi, kwaye, ukuba kuyimfuneko, amayeza kunye nezixhobo zibalulekile.
• Eyona nto ibalulekileyo : ukuxilongwa kwangoko, iingcebiso zonyango ezifanelekileyo kunye nonyango. Inkxaso yosapho kunye namaqela enkxaso nawo abaluleke kakhulu.

Ukuba uneminye imibuzo malunga noku, ungoyiki ukuthetha nogqirha wakho. Baza kukunceda.

` i-limb-girdle muscular dystrophy, i-LGMD, ubuthathaka bemisipha, izifo zemfuza, iintlungu zamagxa, iintlungu zesinqe, unyango, i-muscular dystrophy sinhala, ukuphelelwa yimisipha