Ingabe nawe unemisipha ebuthakathaka emahlombe nasezinqeni zakho? Ake sixoxe nge-Limb-Girdle Muscular Dystrophy (LGMD)!

Ingabe ngezinye izikhathi uzizwa sengathi amahlombe akho, izingalo, noma izinqe zakho zibuthakathaka kancane? Ingabe ukuthola kunzima ukuvuka esihlalweni noma ukukhuphuka izitebhisi? Ingabe ngezinye izikhathi uzizwa sengathi izingalo zakho zibuthakathaka uma uphakamisa into esindayo? Lokhu kungase kungabi ukukhathala ngokomzimba kuphela. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu. Lokhu kubizwa ngokuthi i-Limb-Girdle Muscular Dystrophy , noma i-LGMD ngamafuphi.

Kuyini i-Limb-Girdle Muscular Dystrophy (LGMD)?

Kalula nje, i-Limb-Girdle Muscular Dystrophy yigama elijwayelekile leqembu lezimo ezizuzwe njengefa ezinciphisa kancane kancane imisipha ethile emizimbeni yethu. Kuyisifo esingamahlalakhona , okusho ukuthi singahlala impilo yonke. Singathinta noma ubani wanoma yimuphi ubudala.

"Amabhande emilenze" amathambo azungeze amahlombe ethu nezinqe. Njengamalunga axhumanisa izingalo nemilenze yethu nomzimba wethu. Ngakho-ke kulesi simo "(LGMD)``, imisipha ehlotshaniswa nalezi zindawo zamahlombe nezinqe ithinteka kakhulu.

Kungenzeka ukuthi uke wezwa igama elithi "muscular dystrophy." Libhekisela eqenjini lezimo zofuzo ezithinta ukusebenza kwemisipha. Ezinhlotsheni eziningi ze-"muscular dystrophy," izimpawu ziya ngokuya ziba zimbi ngokuhamba kwesikhathi.

Sivame kangakanani lesi simo esibizwa ngokuthi i-LGMD?

Eqinisweni, i-`(Limb-Girdle Muscular Dystrophy)` iyisifo esingavamile kakhulu . Cabanga nje, ezweni elifana neMelika, uma uhlanganisa zonke lezi zinhlobo ze-`(LGMD)`, ithinta abantu abangaba babili kuphela kwabayikhulu lezinkulungwane. Uma uyiqhathanisa ne-`(Duchenne muscular dystrophy)` esiyaziyo futhi esikhuluma ngayo kakhudlwana (lokhu futhi uhlobo lwe-`muscular dystrophy`), ithinta cishe oyedwa kubafana abangu-3600 eMelika. Ngakho-ke i-`(LGMD)` ayivamile kakhulu kunalokho.

Phakathi kwalezi zinhlobo ze-`(LGMD)`, uhlobo oluvame kakhulu e-United States yi-`(LGMD R1 calpain3-related)`. Lokhu kubizwa nangokuthi `(calpainopathy)`. Phakathi kuka-12% no-30% wabo bonke abaguli be-`(LGMD)` bangabalolu hlobo.

Yiziphi izimpawu esizibonayo?

Izimpawu eziyinhloko ze-Limb-Girdle Muscular Dystrophy ubuthakathaka bemisipha kanye nokuncipha kwemisipha noma ukuwohloka . Lokhu kuthinta kakhulu:

• Kuze kube semahlombe
• Ngezingalo ezingaphezulu (ingxenye yengalo yethu kusukela ehlombe kuya endololwaneni)
• Endaweni yesinqe
• Ngezimpondo (ingxenye yemilenze yethu kusukela esinqeni kuya edolweni)

Ubudala lapho izimpawu ziqala khona, kanye nokuthi lezi zimpawu ziqhubeka ngokushesha kangakanani, kungahluka kusuka kolunye uhlobo lwe-LGMD kuya kolunye.

Izimpawu zokuqala zalesi simo ubunzima bokuhamba . Isibonelo:

• Kungase kuvele ukuhambahamba ...
• Ukusuka endaweni yokuhlala, njengesihlalo noma isihlalo sendlu yangaseseKunzima ukuvuka .
• Ubunzima bokukhuphuka izitebhisi .

Futhi, lapho imisipha emahlombe nasezingalweni ezingaphezulu iba buthakathaka, izinto ezinjengalezi zingenzeka:

• Ubunzima bokufinyelela ngaphezu kwekhanda . Cabanga ngakho njengokususa into eshalofini.
• Kunzima ukwelula izingalo zakho phambi kwakho .
• Ukungakwazi ukuphakamisa izinto ezisindayo .
• Abanye abantu bangase bakuthole kunzima ukusebenzisa izandla zabo ngisho nasekudleni .

Ezinye izinhlobo ze-LGMD zingase zibe nezici ezengeziwe ngaphezu kwalezi. Ezinye zazo zifaka:

• Izinkinga zenhliziyo : Isibonelo, izinto ezinjengobuthakathaka bemisipha yenhliziyo (i-cardiomyopathy), ukungasebenzi kahle kokuhamba kwegazi, noma i-arrhythmias.
• Ubunzima bokuphefumula .
• Ubunzima bokugwinya ukudla (i-dysphagia) .
• Ukugoba , okusho ubunzima ekugobeni nasekuvulekeni kwamalunga.
• Ukuqaqamba kwemisipha .
• Ukuqina kwemisipha : Ngezinye izikhathi, noma imisipha ibuthakathaka, ingabonakala inkulu uma uyibuka ngaphandle.
• Ubuthakathaka emisipheni ekude, njengezingalo nemilenze .

Ingabe lokhu kungabanga izinkinga ezinkulu?

Yebo, ngezinye izikhathi i-LGMD ingabangela izinkinga ezithile. Kodwa akufani kuwo wonke umuntu. Kunezici eziningana ezingayithinta:

• Uhlobo luni lwe-`(LGMD)` onalo?
• Izimpawu zaqala nini ubudala futhi lesi sifo sikhula ngokushesha kangakanani.
• Unezindawo ezinhle zokunakekelwa kwezokwelapha kanye nokuphathwa kwezimpawu.

Ezinye zezinkinga ezingaba khona yilezi:

• Uma i-LGMD iqala ebuntwaneni, ingaholela ekubambezelekeni kwamakhono okunyakaza okukhulu njengokuhamba .
• Ezinye izinhlobo zingabangela ukukhubazeka kwengqondo kanye nobunzima bokufunda .
• I-Kyphosis kanye/noma i-scoliosis ingabonakala, ikakhulukazi ku-LGMD eqala ebuntwaneni.
• Ukusebenza kwamaphaphu kungaphazamiseka, okuholela ezifweni zamaphaphu ezivimbekile , mhlawumbe ukwehluleka kokuphefumula noma ukwehluleka kokuphefumula .
• Ukungondleki kahle kungenzeka ngenxa yobunzima bokudla nokugwinya.

Kungani lokhu kwenzeka? Iyini imbangela?

Imbangela eyinhloko ye-Limb-Girdle Muscular Dystrophy ukuguqulwa kwezakhi zofuzo.. Lawa ma-gene anesibopho sokugcina isakhiwo semisipha kanye nokusebenza kwayo okunempilo. Ngakho-ke uma kukhona ushintsho kula ma-gene, amaseli okufanele alondoloze imisipha awakwazi ukwenza lowo msebenzi kahle. Ngenxa yalokho, imisipha iba buthaka kancane kancane ngokuhamba kwesikhathi. Kunezinguquko ezithile zezakhi zofuzo ezihlobene nohlobo ngalunye lwe-`(LGMD)`.

Lezi zinguquko zofuzo zizuzwe njengefa kubazali bethu. I-LGMD ihlukaniswe ngezigaba ezimbili eziyinhloko, kuye ngokuthi izakhi zofuzo zizuzwe kanjani njengefa:

• Iqembu le-LGMD D : Lokhu kwenzeka ngephethini ebizwa ngokuthi ``ifa eliyi-autosomal dominant``. Lokhu kusho ukuthi ukuguquka kwezakhi zofuzo okubangela lesi sifo kungakhula ngisho noma umzali oyedwa kuphela okuzuza njengefa.
• Iqembu le-LGMD R : Lokhu kwenzeka ngephethini ebizwa ngokuthi ``ifa le-autosomal recessive``. Lokhu kusho ukuthi ukuguquka kwezakhi zofuzo okubangela lesi sifo kumele kutholwe njengefa kubo bobabili abazali.

Ingabe kunezinhlobo ezahlukene ze-LGMD?

Yebo, kunezinhlobo eziningana ze-`(Limb-Girdle Muscular Dystrophy)`. Abacwaningi nodokotela basebenzisa isakhiwo esikhethekile sokuqamba amagama ukuze bahlukanise lezi zinhlobo. Siqukethe izinhlamvu "LGMD" nezinye izinto ezimbalwa:

• Indlela izakhi zofuzo ezizuzwa ngayo : Uhlamvu "D" lumelela `(ifa elilawulayo le-autosomal)`. Uhlamvu "R" lumelela `(ifa eliphindaphindayo le-autosomal)`.
• Ukulandelana kokutholakala : Abacwaningi banikeza lawa ma-subtype inombolo ngokulandelana kokutholakala kwawo.
• Iphrotheni noma i-gene ethintekile : Lokhu kuboniswa njengokuhlobene "[ne-gene noma igama leprotheni]". Isibonelo, `(ehlobene ne-calpain3)`.

Kunezinhlobo eziningana zalokhu. Kuyinkimbinkimbi kancane ukuchaza ngayinye, ngakho ngeke singene emininingwaneni. Kodwa udokotela wakho angakutshela okwengeziwe ngalokhu.

Odokotela bakuthola kanjani lokhu?

Uma wena noma ingane yakho nisolwa ukuthi ninezimpawu ze-Limb-Girdle Muscular Dystrophy, udokotela cishe uzokwenza ukuhlolwa ngokomzimba , ukuhlolwa kwezinzwa , kanye nokuhlolwa kwemisipha . Bazokubuza ngezimpawu zakho nokuthi ngabe kukhona yini emndenini wakho oke waba nalezi zimo.

Uma usola ukuthi une-LGMD, kunganconywa ukuhlolwa okukodwa noma ngaphezulu kwalokhu okulandelayo:

• Ukuhlolwa kwegazi kwe-Creatine kinase : Uma imisipha yonakele, i-enzyme ebizwa ngokuthi ``creatine kinase`` ikhishwa egazini. Ngakho-ke uma izinga layo liphakeme, kungaba uphawu lwesimo esibizwa ngokuthi ``muscular dystrophy.``
• Ukuhlolwa kofuzo : Lokhu kuhlolwa kungakhomba izinguquko zofuzo ezihlobene nezinye izinhlobo ze-LGMD. Lena yindlela kuphela yokuqinisekisa ukuthi iyiphi uhlobo lwe-LGMD onalo .
• Ukuhlolwa kwemisipha: Lokhu kuhilela ukuthatha isampula encane yezicubu zakho zemisipha bese uchwepheshe eyihlola ngaphansi kwesibonakhulu. Lokhu kungasiza ekunqumeni ukuthi unezimpawu ze-muscular dystrophy.
• I-Electromyography (EMG) : Lolu vivinyo lulinganisa umsebenzi kagesi wemisipha nezinzwa.

Uma wena noma ingane yakho nitholakala ninesifo i-LGMD, udokotela wakho uvame uku-oda ukuhlolwa kokusebenza kwenhliziyo namaphaphu ukuze ahlole ukuthi inhliziyo namaphaphu akho asebenza kahle kangakanani. Kubalulekile ukwazi ukuthi lesi simo sizithinte yini lezo zitho zomzimba.

Yiziphi izindlela zokwelapha?

Ngokudabukisayo, okwamanje akukho ukwelashwa kwe-Limb-Girdle Muscular Dystrophy, kodwa abacwaningi bayaqhubeka nokusebenza kuyo.

Umgomo oyinhloko wokwelashwa kwamanje ukusiza ukuphatha izimpawu nokuthuthukisa ikhwalithi yokuphila . Izinketho zokwelapha zingahluka kuye ngohlobo lwe-LGMD onayo. Ezinye zazo zifaka:

• Ukwelashwa ngokomzimba nangokomsebenzi : Lokhu kusiza kakhulu ekuqiniseni imisipha nokwenza izivivinyo zokuzelula. Kukusiza ukuthi uthole izindlela zokwenza imisebenzi yansuku zonke kalula futhi ugcine ukuhambahamba.
• Ama-Corticosteroids : Ama-Corticosteroids afana ne-prednisolone kanye ne-deflazacort angasiza ekunciphiseni ubuthakathaka bemisipha, ukuthuthukisa ukusebenza kwamaphaphu, ukunciphisa ubuhlungu emhlane, kanye nokunciphisa ukuqhubeka kwe-cardiomyopathy. Kodwa-ke, awasebenzi kuzo zonke izinhlobo ze-LGMD. Awusizo kakhulu kwezinye izinhlobo, njenge-LGMD R9 FKRP-related.
• Izinsiza zokuhamba : Amadivayisi anjengezinduku, ama-braces, ama-walker, kanye nezihlalo zabakhubazekile enza ukuhamba nokuhamba kube lula, kusiza ukuvimbela ukuwa, futhi kusize ukunciphisa ukukhathala.
• Ukuhlinzwa : Ezinye iziguli ze-LGMD zingadinga ukuhlinzwa ukuze kuncishiswe ukucindezeleka kwemisipha eqinile futhi kulungiswe i-scoliosis.
• Ukunakekelwa kokuphefumula : Amadivayisi okusiza ukukhwehlela kanye nemishini yokuphefumula ingasiza ekwenzeni ukuphefumula kube lula. Uma kwenzeka ukwehluleka okukhulu kokuphefumula, kungadingeka i-tracheostomy (ukwenza imbobo entanyeni ukusiza ukuphefumula) kanye nosizo lokuphefumula.
• Ukunakekelwa kwenhliziyo : Imithi efana ne-ACE inhibitors kanye/noma ama-beta-blockers, uma iqalwa kusenesikhathi, inganciphisa ukuqhubeka kwe-cardiomyopathy futhi ivimbele ukukhula kokwehluleka kwenhliziyo. Ama-pacemaker angasiza ekwelapheni izinkinga zesigqi senhliziyo kanye nokwehluleka kwenhliziyo.
• Ukwelapha ngenkulumo: Lokhu kwelapha kungaba usizo kulabo abanenkinga yokugwinya.
• Izivivinyo zemitholampilo : Kuye ngohlobo lwe-LGMD onayo nokuthi uhlala kuphi, ungase ube nethuba lokubamba iqhaza ezivivinyweni ezintsha zemitholampilo. Kunenani elikhulayo lezivivinyo zemitholampilo eziqhubekayo njengamanje ze-LGMD.

Ithimba lochwepheshe livame ukudingeka ukuze liphathe i-LGMD, kokubili wena nomntwana wakho. Lokhu kungafaka phakathi odokotela bezinzwa, odokotela be-physiatrists, odokotela be-genetics, odokotela bamathambo, odokotela be-physiotherapy, odokotela be-occupational therapists, odokotela be-cardiologists, odokotela be-pulmonologists, odokotela bezengqondo, kanye nabasebenzi bezenhlalakahle.

Uyini umbono womuntu one-LGMD?

Kunzima ngabacwaningi nodokotela ukusho ngqo ukuthi yini ebikezelwayo kumuntu one-LMD. Kodwa ithimba lakho lezokwelapha lizokunikeza ulwazi oluningi ngangokunokwenzeka mayelana nokuthi yini ongayilindela.

Ngokuvamile, uma i-LGMD iqala ebuntwaneni, lesi sifo sikhula ngokushesha futhi izinkinga zingase zenzeke . Kodwa-ke, uma i-LGMD iqala ebudaleni noma ebudaleni, imvamisa ayibi kakhulu futhi lesi sifo siqhubeka kancane .

Ungaphila isikhathi esingakanani nalokhu?

Isikhathi sokuphila esimaphakathi somuntu one-LGMD sincike kakhulu ekutheni unaluphi uhlobo lwe-LGMD nokuthi luthuthuka ngokushesha kangakanani . Ngokuvamile, abantu abane-LGMD abathola izinkinga, njengesifo senhliziyo nobunzima bokuphefumula, bangase babe nesikhathi sokuphila esifushane kunalabo abangenazo lezo zinkinga.

Ingabe ikhona indlela yokuvimbela lokhu?

Ngenxa yokuthi i-Limb-Girdle Muscular Dystrophy iyisimo sofuzo, okwamanje akukho lutho olungenziwa ukuyivimbela .

Uma uhlela ukuba nezingane futhi ukhathazekile ngokuthi ungase udlulisele izifo ze-LGMD noma ezinye izifo zofuzo, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Uma une-LGMD, kunezinto eziningana ongazenza ukuvimbela noma ukubambezela izinkinga nokuthuthukisa ikhwalithi yempilo yakho:

• Yidla ukudla okunempilo nokudla okunempilo ukuze uvimbele ukungondleki kahle.
• Phuza amanzi amaningi ukuze uvimbele ukuphelelwa amanzi emzimbeni kanye nokuqunjelwa.
• Yenza ukuzivocavoca okulula kuya kokulingene njengoba kunconywe yithimba lakho lezokwelapha.
• Gcina isisindo esinempilo .
• Gwema ukubhema ukuze uvikele amaphaphu akho nenhliziyo yakho.
• Thola imijovo ngesikhathi .

Ngingamnakekela kanjani umuntu one-LGMD? Noma ngenzenjani uma nginayo?

Uma une-Limb-Girdle Muscular Dystrophy, noma uma unakekela umuntu onaso, kubalulekile ukukhuthaza nokufuna ukunakekelwa kwezokwelapha okungcono kakhulu . Ukwenza kanjalo kuzokusiza ukuthi ugcine impilo yakho isezingeni eliphezulu kakhulu.

Wena nomndeni wakho ningajoyina amaqembu okusekelana . Lokhu kuzoninika ithuba lokuhlangana nabanye abantu abake babhekana nezinto ezifanayo nezakho, nixoxe nabo, futhi nabelane ngemibono. Kuzoba umthombo omkhulu wamandla.

Kufanele ngimbone nini udokotela?

Uma une-Limb-Girdle Muscular Dystrophy, kufanele ubonane nethimba lakho lezokwelapha njalo ukuze uthole ukwelashwa futhi uqaphe izimpawu zakho.

Ukuqonda ukutholakala kwakho kwe-Limb-Girdle Muscular Dystrophy (LGMD) kungaba yinto enzima kakhulu. Kodwa ithimba lakho lezokwelapha lingakusiza ukuthi wakhe uhlelo lokuphatha oluhambisana nezimpawu zakho. Into ebaluleke kakhulu ukuqinisekisa ukuthi uthola ukwesekwa okudingayo futhi uhlale ugxile empilweni yakho . Khumbula, ithimba lakho lezokwelapha lihlala likhona ukukusiza wena nomndeni wakho.

Okokugcina, izinto okufanele uzikhumbule

I-Limb-Girdle Muscular Dystrophy (LGMD) yisimo sofuzo esenza kancane kancane imisipha ezindaweni zamahlombe nezinqe ibe buthaka. Nakuba kuyisimo esingavamile, kubalulekile ukuqaphela izimpawu.

• Izimpawu eziyinhloko : Ubuthakathaka bemisipha emahlombe, ezingalweni ezingenhla, ezinqeni nasemathangeni, ubunzima bokuhamba, kanye nokungakwazi ukuphakamisa izinsimbi.
• Isizathu : Umehluko wezakhi zofuzo.
• Ukwelashwa : Okwamanje akukho ukwelashwa. Umgomo ukuphatha izimpawu nokuthuthukisa ikhwalithi yokuphila. Ukwelashwa ngokomzimba, ukwelashwa emsebenzini, kanye, uma kudingeka, imithi namadivayisi kubalulekile.
• Into ebaluleke kakhulu : ukuxilongwa kusenesikhathi, iseluleko esifanele sezokwelapha kanye nokwelashwa. Ukusekelwa komndeni kanye namaqembu okusekela nakho kubaluleke kakhulu.

Uma uneminye imibuzo mayelana nalokhu, ungesabi ukukhuluma nodokotela wakho. Bazokusiza.

` i-limb-girdle muscular dystrophy, i-LGMD, ubuthakathaka bemisipha, izifo zofuzo, ubuhlungu behlombe, ubuhlungu benqulu, ukwelashwa, i-muscular dystrophy sinhala, ukulahlekelwa yimisipha