Iyini i-Muscular Dystrophy? Izimpawu, Izimbangela, Nokwelashwa

I-muscular dystrophy yiqembu leemeko zezofuzo eziqeda amandla emisipha yakho kancane kancane ngokuhamba kwesikhathi. Cabanga ngakho njengomzimba wakho onenkinga yokugcina amandla nokwakheka kwamafayibha emisipha, okungathinta indlela ohamba ngayo, uphefumula ngayo, futhi wenze imisebenzi yansuku zonke.

Nakuba lokhu kungase kuzwakale kukhulu ekuqaleni, ukuqonda i-muscular dystrophy kungakusiza wena noma abathandekayo bakho ukuthi niqonde le meko ngethemba elikhulu. Empeleni kunezinhlobo eziningi ezahlukene, ngayinye inezikhathi zayo kanye nezici zayo, futhi ukuqhubeka kwezokwelapha kuqhubeka nokwenza impilo ibe ngcono kubantu abaphila nale meko.

Iyini i-muscular dystrophy?

I-muscular dystrophy ibhekisela ku-30 ngaphezulu kwezifo eziwusizo ezibangela ukubuthakathaka okukhulu kwemisipha nokulahleka kwamandla emisipha. Imisipha yakho kancane kancane iba nekhono elincane lokuzilungisa, okubangela ukwanda kokunzima nokuhamba kwesikhathi.

Igama elithi "dystrophy" lisho ngokoqobo ukuthi "ukondliwa okungalungile," kodwa kulendaba, lichaza ukuthi amaseli emisipha yakho awakwazi ukugcina ukwakheka kwawo okujwayelekile. Uhlobo ngalunye lwe-muscular dystrophy lubangelwa izinguquko ezahlukene zezofuzo ezithinta amaprotheni athile amisipha yakho adinga ukuhlala impilo.

Ezinye izinhlobo ziveleka ebuntwaneni obuqala, kanti ezinye azibonisi izimpawu kuze kube ebuntwini. Ukuqhubeka kungaba ngokushesha kwezinye izimo noma kancane kakhulu kwezinye, kuye ngohlobo oluthile olusebenzelana nalo.

Ziyini izinhlobo ze-muscular dystrophy?

Kunezinhlobo eziningi eziyinhloko ze-muscular dystrophy, ngayinye ithinta amaqembu emisipha ahlukene futhi ilandela izindlela ezahlukene zokuqhubeka. Ukuqonda uhlobo lwakho oluthile kusiza odokotela ukuba bakhe uhlelo lokwelapha oluphumelelayo kuwe.

I-Duchenne muscular dystrophy (DMD) yiyona evamile futhi eqinile kunazo zonke kubantwana. Ithinta ikakhulukazi abafana futhi ngokuvamile ibonakala phakathi kweminyaka engu-2-6, ibangela ukubuthakathaka okuqhubekayo okuqala ngokuvamile ezinyaweni nasemphongolweni.

I-Becker muscular dystrophy ifana ne-Duchenne kodwa iqhubeka kancane. Izimpawu zivame ukuqala ebusheni noma ekuqaleni kwama-twenties, futhi abantu abaningi bagcina ikhono lokuhamba kahle kuze kube ebuntwini.

I-Myotonic dystrophy yiyona evamile kunazo zonke kubantu abadala. Ngaphezu kokubuthakathaka kwemisipha, ingabangela ukukhuluphala kwemisipha (myotonia) lapho imisipha yakho inenkinga yokupumula ngemuva kokuncika.

I-Facioscapulohumeral dystrophy (FSHD) ngokuvamile iqala ebusweni, emagxeni, nasezingalweni eziphezulu. Ngokuvamile iyinye yezinhlobo ezimnene futhi ingaqala kunoma iyiphi iminyaka kusukela ebuntwaneni kuze kube ebuntwini.

I-Limb-girdle muscular dystrophy ithinta imisipha eseduze kwama-hips namahlombe kuqala. Kunezinhlobo eziningi ezifakwe kuleli qembu, ngayinye inezimbangela zezofuzo ezahlukene kanye nezindlela zokuqhubeka.

Ziyini izimpawu ze-muscular dystrophy?

Izimpawu ze-muscular dystrophy zingase zihluke kakhulu kuye ngohlobo olukhona, kodwa zonke zihilela ukubuthakathaka okukhulu kwemisipha. Ungase uqaphele lezi zinguquko zithuthuka kancane kancane ngezinyanga noma iminyaka.

Nawa amanqaku avamile okumelwe uwabukele:

• Ukunzima ukuhamba, ukugijima, noma ukukhuphuka izitebhisi
• Ukuwa okuvamile noma ukungakwazi ukuvuka phansi
• Ubuhlungu bemisipha, ukukhuluphala, noma ukugqama
• Ukubuthakathaka emaqenjini emisipha athile (ubuso, amahlombe, noma imilenze)
• Imisipha ye-calf enkulu ebuthakathaka kunokuba ibonakala
• Ukulibaziseka kokuthuthuka komzimba kubantwana
• Ukunzima ukuqopha izingalo ngaphezulu kwekhanda noma ukuthwala izinto
• Ukuhluka kokuma noma indlela yokuhamba

Ezinye izinhlobo zibangela izimpawu ngaphandle kwemisipha ngokwayo. Ungase ube nezinkinga zenhliziyo, ubunzima bokuqeda umoya, noma izinselele zokufunda, kuye ngohlobo lwe-muscular dystrophy olukhona.

Ukuqhubeka kwezimpawu ngokuvamile kuya kancane kancane, okusho ukuthi ungase uzilungiselele izinguquko ngaphandle kokuzibona ngokushesha. Kungakho kubalulekile ukunaka izindlela zokwanda kokunzima ngemisebenzi owayuyenza kalula.

Yini ebangela i-muscular dystrophy?

I-muscular dystrophy ibangelwa izinguquko (izinguquko) ezinjini ezibophezele ekwenzeni amaprotheni amisipha yakho adinga ukuhlala impilo. Lezi zinguquko zezofuzo ziwusizo, okusho ukuthi zidluliselwa kubazali kubantwana.

Iprotheni ebaluleke kakhulu ethintekayo ibizwa ngokuthi i-dystrophin, esebenza njengomthwali we-shock wamafayibha emisipha yakho. Uma i-dystrophin ingalokothi ibe khona noma isebenzi kahle, amaseli emisipha yakho alimalela njalo lapho ecinca futhi ekugcineni afe.

Izinhlobo ezahlukene ze-muscular dystrophy zihilela izinguquko ezahlukene ezinjini. Isibonelo, i-Duchenne ne-Becker dystrophy zombili zithinta i-dystrophin gene, kanti ezinye izinhlobo zihilela i-genes ezenza amaprotheni emisipha ahlukene.

Izindlela zokudluliselwa ziyahluka kuye ngohlobo. Ezinye izinhlobo zi-X-linked, okusho ukuthi zithinta ikakhulukazi amadoda ngoba i-gene itholakala ku-X chromosome. Ezinye zilandela izindlela eziyinhloko noma ezihlukanisiwe, zithinta amadoda nabesifazane ngokulinganayo.

Kubalulekile ukuqonda ukuthi i-muscular dystrophy ayibangelwa yilutho olukwenzile noma awukwenzanga. Lezi yizimo zezofuzo ezenzeka ngenxa yezinguquko ze-DNA eziwusizo, hhayi izici zokuphila noma ukukhishwa komkhathi.

Nini okumelwe ubona udokotela nge-muscular dystrophy?

Kumelwe ubone udokotela uma uqaphela ukubuthakathaka okungapheli kwemisipha noma uma ingane yakho inganayo imiphumela yokuqala yokuqala. Ukubheka kwangaphambi kwesikhathi kungakhokelela ekuphathweni nasekusekelweni okuhle kuwe noma emndenini wakho.

Hlela i-aphoyintimenti uma uhlangabezana nokuwa okuvamile, ukunzima ukukhuphuka izitebhisi, noma ukunzima ukuqopha izinto ezingazange zibe nzima ngaphambili. Lezi zinguquko emakhonweni akho omzimba zifanele zitholakale ukunakekelwa kwezokwelapha, ikakhulukazi uma ziya ziba zimbi.

Kubantwana, qaphela ukulibaziseka ukuhamba, ukunzima ukugijima noma ukugxuma, noma ukunzima ukulandela abalingani ngesikhathi semisebenzi yomzimba. Abafana abane-calf muscles enkulu kanye nobuthakathaka kufanele bahlolwe ngokushesha.

Ungalindi uma uhlangabezana nezinkinga zokuphefumula, ukushaya kwenhliziyo, noma ukukhathala okukhulu kanye nobuthakathaka bemisipha. Lokhu kungase kubonise ukuthi le meko ithinta ezinye izinhlelo ezibalulekile zomzimba ezidinga ukunakekelwa ngokushesha.

Umbhalo womndeni nawo ubalulekile. Uma unezihlobo ezine-muscular dystrophy futhi uhlela ukuba nezingane, ukwelulekwa kwezofuzo kungakunikeza ulwazi oluyigugu mayelana nezingozi nezinketho zokuhlola.

Ziyini izingozi ze-muscular dystrophy?

Inkinga ephambili ye-muscular dystrophy ukuba nomlando womndeni wale meko. Njengoba lezi yizifo zezofuzo, ingozi yakho ixhomeke kakhulu ekutheni uzuze izinguquko ze-gene ezithile ezibangela zona.

Ubulili bakho bomzimba bungathinta ingozi yezinye izinhlobo. Izinhlobo ze-X-linked ezifana ne-Duchenne ne-Becker muscular dystrophy zithinta ikakhulukazi amadoda ngoba ana-X chromosome eyodwa. Abesifazane bangaba abathwali futhi bangaba nezimpawu ezimnene.

Ubudala bokuqala buyahluka kuye ngohlobo, kodwa ezinye izinhlobo zivame ukubonakala ngezigaba ezithile zokuphila. I-Duchenne ngokuvamile ibonisa izimpawu ebuntwaneni obuqala, kanti ezinye izinhlobo ezifana ne-myotonic dystrophy zivame ukuvela ebuntwini.

Isiko lezinhlanga lingase lidwebe indima kwezinye izinhlobo ezingavamile. Izinguquko ezithile zezofuzo zivame kakhulu kubantu abathile, nakuba i-muscular dystrophy ingathinta abantu banoma yiliphi isizwe.

Ukuba nohlobo olulodwa lwe-muscular dystrophy akwandisi ingozi yakho yokuthuthukisa ezinye izinhlobo, njengoba ngayinye ihilela izinguquko ezahlukene zezofuzo. Noma kunjalo, amalungu omndeni angaba nengozi efanayo yezofuzo.

Ziyini izinhlanganisela ezingase zenzeke ze-muscular dystrophy?

I-muscular dystrophy ingabangela izinhlanganisela eziningi njengoba le meko iqhubeka, kodwa eziningi zalezi zingaphathwa kahle ngokunakekelwa kwezokwelapha okufanele. Ukuqonda izinhlanganisela ezingase zenzeke kusiza wena neqembu lakho lokunakekelwa kwezokwelapha ukuba libe phambili kunzima.

Nawa ama-complications abaluleke kakhulu okumelwe uwazi:

• Ubunzima bokuqeda umoya njengoba imisipha yokuqeda umoya ibuthakathaka
• Izinkinga zenhliziyo, kufaka phakathi i-cardiomyopathy kanye nezingqondo ezingavamile
• Ukubopha kwama-joint lapho imisipha nama-tendons ecindezela
• I-Scoliosis (ukugoba komgogodla) kusuka ekungalingani kwemisipha
• Ukulinganiselwa kokunyakaza okudinga amadivayisi okusiza
• Izinkinga zokugwinya ezingathinta ukondliwa
• Ukungena engcupheni yokugqwala kusuka ekuweni nasebuthakathaka bamathambo

Izinhlanganisela zokuphefumula ziphakathi kwezinto ezinkulu kakhulu ezinkulu. Njengoba imisipha ekusisiza ukuba siphefumule ibuthakathaka, ungase udinga ukusekelwa kokuphefumula, ikakhulukazi ngesikhathi sokulala noma ukutheleleka kokuphefumula.

Izindaba ezinhle ukuthi izinhlanganisela eziningi zingavikeleka noma ziphathwe ngokunakekelwa okuqaphayo. Ukubhekwa njalo, ukuqeqeshwa komzimba, kanye nezinyathelo ezifanele zingathuthukisa kakhulu ikhwalithi yakho yokuphila futhi zisize ukuvimbela ezinye zalezi zinkinga ukuba zingathuthuki.

I-muscular dystrophy ihlonishwa kanjani?

Ukuhlonishwa kwe-muscular dystrophy ngokuvamile kuhilela izinyathelo eziningi, kuqala ngengxoxo eningiliziwe yezimpawu zakho nomlando womndeni. Udokotela wakho uzofuna ukuqonda ukuthi uqale nini ukubona ukubuthakathaka nokuthi kuqhubeke kanjani ngokuhamba kwesikhathi.

Ukuhlolwa komzimba kuza okulandelayo, lapho udokotela wakho azovivinya amandla emisipha yakho, ama-reflexes, kanye nokuhlanganiswa. Bazobheka izindlela ezithile zokubuthakathaka ezingasiza ekuqondeni ukuthi yiluphi uhlobo lwe-muscular dystrophy olungase luhileleke.

Izivivinyo zegazi zingase zibonise amazinga aphezulu e-enzyme ebizwa ngokuthi i-creatine kinase (CK), ephuma emaseleni alimale.

Ukuhlolwa kwezofuzo ngokuvamile kuyithuluzi eliqinisekile kakhulu lokuhlonishwa. Isibonelo segazi noma i-saliva elula singabonisa izinguquko ezithile zezofuzo ezibangela izinhlobo ezahlukene ze-muscular dystrophy.

Udokotela wakho angase futhi akukhuthaze ukuhlolwa kwe-electromyography (EMG), okuqapha umsebenzi womgogodla emisipha yakho, noma ngezinye izikhathi i-muscle biopsy ukuhlola insimbi ngaphansi komkhiqizo. Lezi zivivinyo zisiza ekuqinisekiseni ukuhlonishwa nasekuphepheni ezinye izimo.

Iyini ukwelashwa kwe-muscular dystrophy?

Nakuba okwamanje ayikho impilo ye-muscular dystrophy, ukwelashwa kungase kube kancane kancane ukuqhubeka, kuphathe izimpawu, futhi kuthuthukise ikhwalithi yakho yokuphila. Indlela igxile ekugcineni umsebenzi nasekuvimbeleni izinhlanganisela isikhathi eside ngangokunokwenzeka.

Imithi idlala indima ebalulekile ekwelapheni. Ama-corticosteroids afana ne-prednisone angasiza ekuqedeni ukubola kwemisipha kwezinye izinhlobo, ikakhulukazi i-Duchenne muscular dystrophy. Imithi emisha efana ne-eteplirsen ingase izuzise izinhlobo ezithile zezofuzo.

Ukuqeqeshwa komzimba kubalulekile ekugcineni amandla emisipha nokuguquguquka. Umphengululi wakho uzoklama imisebenzi egcina ama-joint akho eguquguqukile futhi ikusize ukuba ugcine ukuzimela emisebenzini yansuku zonke.

Ukuqeqeshwa komsebenzi kukusiza ukulungisa indawo yakho nokufunda izindlela ezintsha zokwenza imisebenzi njengoba amakhono akho eguquka. Lokhu kungase kuhilele ukusebenzisa amadivayisi okusiza noma ukuguqula ikhaya lakho ukuze kube lula ukufinyelela kulo.

Ukusekelwa kokuphefumula kuya kubaluleka njengoba imisipha yokuqeda umoya ibuthakathaka. Lokhu kungase kuhluke ezindleleni zokuhlanza amaphaphu akho kuze kube ukuphefumula okuzenzakalelayo ngesikhathi sokulala noma isikhathi esigcwele njengoba kudingeka.

Ukubhekwa njalo kwenhliziyo nokwelashwa kusiza ekuphathweni kwezinkinga zenhliziyo. Abanye abantu bangase badinge imithi yezinkinga zokulingana kwenhliziyo noma ukuze basekele umsebenzi wenhliziyo.

Ungayiphatha kanjani i-muscular dystrophy ekhaya?

Ukuphatha i-muscular dystrophy ekhaya kuhilela ukwakha indawo yokusekela ekukusiza ukuba ugcine ukuzimela ngenkathi uhlala uphephile. Ukuhluka okuncane kanye nezindlela eziqhubekayo kungenza umehluko omkhulu ekuphileni kwakho kwansuku zonke.

Gxila ekuzivocavoca okulula, okuqhubekayo njengoba kunconywe yiqembu lakho lokunakekelwa kwezokwelapha. Ukubhukuda nokuqopha ngokuvamile kuyizinketho ezinhle ngoba zigcina ukuguquguquka ngaphandle kokubeka ukucindezela okukhulu emisipha ebuthakathaka.

Ukuhluka kwasekhaya kungathuthukisa ukuphepha nokufinyeleleka. Cabanga ngokufaka ama-grab bars, ama-ramps, kanye nokukhanya okwanele. Ukugcina izinto ezisetshenziswa njalo kufinyeleleka kalula kunciphisa ukucindezeleka kanye nengozi yokuwa.

Ukondliwa kudlala indima yokusekela empilweni yakho yonke. Ukugcina isisindo esinempilo kunciphisa ukucindezela emisipha yakho nama-joints, kanti ukudla okwanele kwamaprotheni kusekela impilo yemisipha.

Amakhono okuvikela amandla akusiza ukwenza okuningi ngokukhathala okuncane. Hlela imisebenzi edinga amandla ngezikhathi lapho uzizwa unamandla khona, futhi ungangabazi ukusebenzisa amadivayisi okusiza lapho ekukusiza.

Hlala uxhumene ne-support network yakho. Umndeni, abangane, namaqembu okusekela banikeza ukusekelwa ngokomzwelo kanye nokusiza okuyisisebenzi okungathuthukisa kakhulu ikhwalithi yakho yokuphila.

Kufanele uzilungiselele kanjani i-aphoyintimenti yakho yodokotela?

Ukulungiselela i-aphoyintimenti yakho kusiza ukuqinisekisa ukuthi uthola ulwazi oluyigugu kakhulu nokusekelwa eqenjini lakho lokunakekelwa kwezokwelapha. Ukulungiselela okuncane ngaphambili kungenza ukuvakasha kube nomphumela omkhulu.

Bhala izimpawu zakho nokuthi wazibona nini kuqala. Faka imininingwane mayelana nemisebenzi ebe nzima kakhulu nokuthi izinguquko zenzeke ngokushesha kangakanani.

Bula umlando wezokwelapha womndeni wakho, ikakhulukazi noma yiliphi izihlobo ezinezifo zemisipha noma izimo zezofuzo. Lolu lwazi lungase lubaluleke kakhulu ekuhlonishweni nasekwelulekeni kwezofuzo.

Yenza uhlu lwemithi yonke, izithasiselo, nama-vitamins owayithatha. Faka imithamo nokuthi ubuthathe isikhathi esingakanani ngayinye.

Lungiselela imibuzo mayelana nemeko yakho, izinketho zokwelapha, nokuthi yini okulindelekile ukuqhubeka. Ungakhathazeki ngokubuza imibuzo eminingi kakhulu - iqembu lakho lokunakekelwa kwezokwelapha lifuna ukukusiza uqonde isimo sakho.

Cabanga ngokuletha ilungu lomndeni noma umngane e-aphoyintimenti. Bangakusiza ukukhumbula ulwazi oluxoxiwe futhi banikeze ukusekelwa ngokomzwelo ngesikhathi esingase sibe yingxoxo enzima.

Iyini into ebaluleke kakhulu mayelana ne-muscular dystrophy?

I-muscular dystrophy imele iqembu leemeko zezofuzo ezibangela ukubuthakathaka okukhulu kwemisipha, kodwa lokhu akusho ukuthi indaba yakho iphela ngokuhlonishwa. Abantu abaningi abane-muscular dystrophy baphila impilo egcwele, enenjongo ngokusekelwa okufanele kanye nezindlela zokuphatha.

Ukuhlonishwa kwangaphambi kwesikhathi nokukhathalela okuqaphayo kwenza umehluko omkhulu emiphumeleni. Ukusebenzisana eduze neqembu lokunakekelwa kwezokwelapha elihlanganisa ochwepheshe, abaphathi, kanye nabanye ochwepheshe abasekelayo kukusiza ukuba ube phambili kunzima futhi ugcine ikhwalithi yokuphila.

I-landscape yokwelashwa iyaqhubeka nokuguquka, ngezindlela ezintsha zokwelapha nezindlela ezithuthukiswayo njalo. Ukulondoloza ulwazi mayelana nokuqhubeka nokugcina ithemba ngekusasa kubaluleke kakhulu njengokuphatha izinselele zansuku zonke.

Khumbula ukuthi ukuba ne-muscular dystrophy akukuthinti wena kuphela, kodwa nomndeni wakho wonke kanye ne-support network. Ukufuna ukusekelwa ngokomzwelo, ukuxhumana nabanye abaqonda isipiliyoni sakho, nokugcina ukuxhumana okuvulekile nabathandekayo kuqina wonke umuntu ohilelekile.

Imibuzo evamile ebuzwayo mayelana ne-muscular dystrophy

Ingabe i-muscular dystrophy ihlala izuzwe kubazali?

Izimo eziningi ze-muscular dystrophy ziwusizo, kodwa cishe ingxenye yesithathu yezimo zivela ezingxenyeni ezintsha zezofuzo ezingazange zibe khona kumzali. Lokhu kusho ukuthi i-muscular dystrophy ingase ibe khona ngisho noma kungekho umlando womndeni wale meko.

Ingabe i-muscular dystrophy ingatholakala ngaphambi kokuzalwa?

Yebo, ukuhlolwa kwezofuzo kwangaphambi kokuzalwa kungatholakala izinhlobo eziningi ze-muscular dystrophy uma kunomlando womndeni owaziwayo noma izingozi ezithile. Lokhu kuhlolwa ngokuvamile kunikezwa ngokwelulekwa kwezofuzo futhi kungasiza imindeni ukuba yenze izinqumo ezilwemi mayelana nokukhulelwa nohlelo lokukhathalela.

Ingabe i-muscular dystrophy ithinta ukuqonda noma umsebenzi wobuchopho?

Izinhlobo eziningi ze-muscular dystrophy azithinti ngqo ukuqonda, nakuba ezinye izinhlobo ezifana ne-Duchenne zingase zihambisane nokuhluka kokufunda noma izinselele zokuqaphela. Iningi labantu abane-muscular dystrophy linamandla okuqonda ajwayelekile futhi lingalandela imfundo nemisebenzi ngempumelelo.

Ingabe ukuzivocavoca kungenza i-muscular dystrophy ibe zimbi?

Ukuzivocavoca okulula, okufanele ngokuvamile kuwusizo futhi ngeke kwenze i-muscular dystrophy ibe zimbi uma kwenziwa kahle. Noma kunjalo, ukuzivocavoca okukhulu noma okunethonya elikhulu kungase kubangele ukonakala okwengeziwe kwemisipha. Njalo sebenzisana neqembu lakho lokunakekelwa kwezokwelapha ukwakha uhlelo lokuzivocavoca oluphephile olufanele isimo sakho nesikhundla sakho.

Iyini ithemba lokuphila lomuntu onale muscular dystrophy?

It hemba lokuphila liyahluka kakhulu kuye ngohlobo lwe-muscular dystrophy nokuthi izinhlanganisela ziphathwa kangcono kanjani. Ezinye izinhlobo azinawo umthelela omncane ekuphileni, kanti ezinye zingase zinciphisa ithemba lokuphila. Ukuqhubeka kwezokwelapha, ikakhulukazi ukusekelwa kokuphefumula kanye nenhliziyo, kuye kwathuthukisa kakhulu imiphumela yabantu abaningi abanemeko lezi.