Ingabe ingane yakho iyawa njalo? Noma ingabe ukuthola kunzima ukuthi ivuke, ikhuphuke izitebhisi, igijime, noma igxume? Ngezinye izikhathi lezi yizinto ezivamile ezenzeka ezinganeni ezincane njengoba zikhula. Kodwa-ke, ngezinye izikhathi kungase kube nenkinga ngemisipha engemuva kwazo edinga ukunakekelwa. Yingakho sizokhuluma ngeqembu lezifo ezenza imisipha ibe buthaka kancane kancane.
Kuyini i-Muscular Dystrophy?
Kalula nje, i-muscular dystrophy yigama elijwayelekile leqembu lezifo ezenza buthaka imisipha yomzimba wethu ngokuhamba kwesikhathi futhi zinciphise ukuguquguquka kwayo. Imbangela eyinhloko yalokhu ukukhubazeka kwezakhi zofuzo ezisiza ukugcina imisipha yethu iphilile.
Abanye abantu bangase babe nalesi sifo besebancane, kanti abanye bangase bangakhombisi zimpawu baze babe neminyaka eyishumi noma eyishumi nanhlanu ubudala, noma baze babe badala.
Indlela lesi sifo esithinta ngayo umuntu ngamunye ihlukile. Kuye ngohlobo lwesifo. Kwabaningi, lesi simo singase sibe sibi kancane kancane ngokuhamba kwesikhathi. Abanye abantu bangase balahlekelwe ngisho nekhono lokuhamba noma lokukhuluma. Kodwa-ke, lokhu akwenzeki kuwo wonke umuntu . Abanye abantu baphila impilo evamile iminyaka eminingi benezimpawu ezincane. Ngakho-ke asikho isidingo sokwesaba kusengaphambili.
Yiziphi izinhlobo eziyinhloko zalokhu?
Kunezinhlobo ezingaphezu kuka-30 ze-muscular dystrophy. Kodwa kunezinhlobo ezingu-9 eziyinhloko esizibona kaningi. Uhlobo ngalunye luhlukile ngokwezakhi zofuzo ezibangela lokhu, imisipha ethintekile, ubudala lapho izimpawu ziqala khona, kanye nesivinini lapho lesi sifo siqhubeka khona.
| Igama Lesifo | Incazelo emfushane |
|---|---|
| I-Duchenne muscular dystrophy (DMD) | Lolu uhlobo oluvame kakhulu. Luthinta kakhulu abafana. Luqala phakathi kweminyaka engu-3-5. |
| I-Becker muscular dystrophy | Kufana neDuchenne, kodwa izimpawu azizimbi kangako. Lokhu kuvame kakhulu nakubafana. Izimpawu zivela phakathi kweminyaka eyi-11-25. |
| I-Myotonic muscular dystrophy | Uhlobo oluvame kakhulu kubantu abadala. Uphawu oluyinhloko ukungakwazi ukukhulula imisipha ngemva kokuba isinciphile. Kungathinta kokubili amadoda nabesifazane. Ngokuvamile kuqala ngeminyaka yama-20. |
| I-Congenital muscular dystrophy | Kuqala ekuzalweni noma ngokushesha ngemva kokuzalwa. |
| I-Limb-girdle muscular dystrophy | Kuthinta imisipha ezungeze izinqe nasemahlombe. Kungaqala eminyakeni yobusha noma engama-20. |
| I-Facioscapulohumeral muscular dystrophy | Kuthinta imisipha yobuso, amahlombe, kanye nezingalo ezingaphezulu. Kungathinta abantu kusukela ebancane kuya kubantu abadala abaseminyakeni yabo engama-40. |
| I-Distal muscular dystrophy | Kuthinta imisipha yezingalo, imilenze, izandla kanye nezinyawo. Ngokuvamile kuqala phakathi kweminyaka engama-40-60. |
| I-Oculopharyngeal muscular dystrophy | Kuqala ngawo-40 no-50. Kubangela ubuthakathaka bemisipha ebusweni, entanyeni nasemahlombe, ukugoba kwamehlo (i-ptosis), kanye nobunzima bokugwinya (i-dysphagia). |
| Ukungasebenzi kahle kwemisipha ka-Emery-Dreifuss | Ngokuvamile kuthinta abafana futhi kuqala cishe eminyakeni eyi-10. Ngaphezu kobuthakathaka bemisipha, izinkinga zenhliziyo nazo zingavela. |
Kungani lolu hlobo lwesifo luvela? (Izimbangela)
Lesi sifo singadluliselwa ngofuzo, noma singaqala ukuvela kuwe noma enganeni yakho ngaphandle kokuba noma ubani emndenini wakho abe naso. Lokhu kubangelwa ukukhubazeka kwezakhi zofuzo .
Cabanga ngakho, la ma-gene ayala amaseli emzimbeni wethu ukuthi enze amaprotheni awadingayo ukuze enze imisebenzi eyahlukahlukene. Kufana neresiphi yokudla. Uma i-gene inephutha, amaseli angenza iphrotheni engalungile, amaprotheni amancane kunalawo awadingayo, noma iphrotheni eyonakele.
Abantu abane-muscular dystrophy banesici ezakhiweni zofuzo ezikhiqiza amaprotheni agcina imisipha iphilile futhi inamandla. Isibonelo, ku-Duchenne no-Becker, iphrotheni ebizwa ngokuthi i-dystrophin ikhiqizwa kancane kakhulu. Le phrotheni ye-dystrophin iqinisa imisipha futhi iyivikele ekulimaleni. Uma le phrotheni ilahleka, imisipha yonakala kalula futhi ibe buthaka.
Ungayibona kanjani? (Izimpawu)
Izimpawu zezinhlobo eziningi zalesi simo ziqala ukuvela ebuntwaneni noma ebusheni. Ngokuvamile, ingane enalesi simo ingabonisa lezi zimpawu ezilandelayo:
- Ukuwa njalo
- Ukuzizwa ubuthakathaka emisipheni
- Ukuqaqamba kwemisipha
- Ubunzima bokuvuka uhleli, ukukhwela izitebhisi, ukugijima, noma ukugxuma
- Ukuhamba ngezinyawo noma ukuhamba ngezinyawo
Kubalulekile ngathi njengabazali ukunaka ukunyakaza kwezingane zethu, ikakhulukazi ukudlala kwazo. Uma ubona noma yini engavamile, ungangabazi ukukhuluma nodokotela.
Ngaphezu kwalokho, abanye abantu bangase babe nezimpawu ezifana nalezi:
- I-Scoliosis
- Ijwabu leso eligobile
- Izinkinga zenhliziyo
- Ubunzima bokuphefumula noma ukugwinya ukudla
- Ukukhubazeka kokubona
- Ubuthakathaka bemisipha yobuso
Udokotela ukuqinisekisa kanjani lokhu? (Ukuxilongwa)
Udokotela uzokwenza izivivinyo eziningana ukuze anqume ukuthi ingane yakho inobuthakathaka bemisipha yini. Okokuqala, bazokwenza ukuhlolwa okujwayelekile komzimba, bakubuze ngomlando wezokwelapha womndeni wakho, bese bebuza ngezimpawu zengane yakho.
Ngemva kwalokho, ukuhlolwa okuningana okufana nalokhu kungenziwa ukuze kukhishwe ezinye izimo ezingase zibangele ubuthakathaka bemisipha kanye nokuthola isifo ngokunembile.
| Igama Lokuhlolwa | Kalula nje, yilokhu okwenzayo... (Incazelo Elula) |
|---|---|
| Ukuhlolwa kwegazi | Amazinga ama-enzyme athile aqongelela egazini lapho imisipha yonakele ayahlolwa. |
| I-Electromyography (EMG) | Ama-electrode amancane afakwa emisipheni bese kulinganiswa umsebenzi kagesi wemisipha. |
| Ukuhlolwa kwemisipha | Ingcezu encane kakhulu yomsipha ithathwa ngenaliti bese ihlolwa ngaphansi kwe-microscope. Lokhu kungakhomba ukuthi yimaphi amaprotheni angekho noma alimele. |
| I-Electrocardiogram (EKG/ECG) | Izimpawu zikagesi zenhliziyo ziyalinganiswa ukuze kuhlolwe ukuthi izinga lokushaya kwenhliziyo kanye nesigqi kuphilile yini. |
| Ukuhlolwa kofuzo | Ngokuhlola isampula yegazi, kungenzeka ukuthola ukuthi yiziphi izakhi zofuzo ezinephutha ezibangela ubuthakathaka bemisipha. |
Yiziphi izindlela zokwelapha?
Okwamanje, ayikho ikhambi le- muscular dystrophy. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ukulawula izimpawu, zenze impilo ibe lula, futhi zinikeze ingane yakho impilo engcono kakhulu. Udokotela wakho uzoncoma ukwelashwa okufanele kakhulu ngokusekelwe ohlotsheni lwesimo ingane yakho enaso.
- Ukwelashwa ngokomzimba: Ukuzivocavoca okuhlukahlukene kanye nokwelula umzimba kusiza ukugcina imisipha iqinile futhi iguquguquka.
- Ukwelashwa emsebenzini:Ingane ifundiswa ukwenza imisebenzi yansuku zonke (isib. ukugqoka, ukubhala) ngendlela engcono kakhulu. Ifundiswa futhi ukusebenzisa amadivayisi anjengezihlalo zabakhubazekile nezinduku.
- Ukwelashwa ngenkulumo: Uma unenkinga yokukhuluma ngenxa yobuthakathaka bobuso bakho noma imisipha yomphimbo, sizokufundisa izindlela ezilula zokwenza kanjalo.
- Imithi:
- Imithi ethile, njenge-'Eteplirsen (Exondys 51)', ekhulisa ukukhiqizwa kwe-dystrophin kwezinye izinhlobo ze-DMD.
- Imithi enciphisa ukuqaqamba kwemisipha.
- Imithi yokucindezela kwegazi yezinkinga zenhliziyo.
- Ama-steroid afana ne-'Prednisone' anganciphisa ukulimala kwemisipha. Kodwa-ke, lawa anemiphumela emibi futhi kufanele asetshenziswe kuphela ngaphansi kweseluleko sikadokotela .
- Ukuhlinzwa: Kungase kudingeke ukuhlinzwa ngenxa yezinkinga ezifana nokuqina komgogodla kanye nezinkinga zenhliziyo.
Izinto okufanele uzicabangele lapho unakekela ingane
Kuvamile ngabazali ukuzizwa bedabukile lapho amandla engane yabo ephela kancane kancane futhi ingakwazi ukugijima nokudlala njengabanye abantwana. Kodwa ungasiza ingane yakho iphile ngenjabulo naphezu kwale nselele.
- Nikeza ukudla okunempilo: Ukudla okunomsoco kusiza ingane yakho ukuthi ilondoloze isisindo esinempilo. Lokhu kunganciphisa izinto ezifana nobunzima bokuphefumula.
- Hlala umatasa: Ukuzivocavoca okungenamthelela omkhulu njengokubhukuda kungasiza ekuqiniseni imisipha. Buza udokotela wakho wezokwelapha ngalokhu.
- Sebenzisa amadivayisi okusiza: Khuthaza ingane yakho ukuthi isebenzise izihlalo zabakhubazekile, izinduku zokuqhugela, njll. uma kudingeka.
- Hlala uqinile: Khuluma nomndeni, abangani, noma umeluleki mayelana nokucindezeleka, ukudabuka, nentukuthelo oyizwayo phakathi nalolu hambo. Futhi, amaqembu okusekelana nabanye abazali bezingane ezinalesi simo angaba umthombo omkhulu wamandla.
Lesi sifo asithinti wonke umuntu ngendlela efanayo. Ezinye izingane zilahlekelwa amandla emisipha ngokushesha kakhulu. Ezinye zingase zilahlekelwe amandla ngokushesha. Ngakho-ke, kubalulekile ukukhuluma ngokukhululekile nodokotela wengane yakho ngesimo sayo bese usungula uhlelo lokwelashwa olufanelana kahle nayo.
Umlayezo Wokuya Nawe Ekhaya
- I-muscular dystrophy yisifo esibangelwa izakhi zofuzo esibangela ukuba imisipha ibe buthaka ngokuhamba kwesikhathi.
- Izimpawu zokuqala ezinganeni zingase zihlanganise ukuwa njalo, ubunzima bokuvuka, nokuhamba ngezinyawo.
- Ngenxa yokuthi kunezinhlobo eziningi zalesi sifo, kubalulekile ukufuna iseluleko sezokwelapha ukuze uthole ukuxilongwa okunembile.
- Nakuba kungekho ukwelashwa okuphelele, ukwelashwa ngokomzimba, imithi, kanye nokunye ukwelashwa kungalawula izimpawu futhi kugcine izinga lempilo lihle.
- Kubaluleke kakhulu ukunikeza ukwesekwa kwengqondo kanye nendawo enhle yengane nomndeni. Khuluma nodokotela wakho nganoma yiziphi izinkinga.
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