Ingxaki yesifo se-Genetic
I-Duchenne muscular dystrophy (i-DMD) yenye yeentlobo ezilisithoba ze-dystrophy ye-muscular, iqela leengxaki zemfuzo ezichaphazela ukusetyenziswa kwemisipha yokuzithandela emzimbeni. I-Duchenne MD izuze njengefa le- X edibeneyo . Ngenxa yendlela ezuze ngayo, i-Duchenne MD ibandakanyeka kakhulu kumakhwenkwe. Amantombazana angayifumana ifa lomgubo we-DMD kodwa ayinayo nayiphi na impawu yesifo.
I-Duchenne MD ithintela malunga no-1 kuwo wonke ama-3 500 azalwa ngokuzalwa kwamadoda (malunga nama-20,000 amatyala ngonyaka). Ichaphazela abantwana bazo zonke iintlanga. Imfuza ye-DMD ibangela ukungabikho kwe-dystrophin, iprotheni ekunceda ukugcina iisli ze-muscle zihambelana. Oku kuthetha ukuba iislidi ezixubileyo zonakaliswa lula kwaye zibuthathaka emva kwexesha.
Iimpawu
Inkwenkwana eneDuchenne MD ihlala ikhula ngokuqhelekileyo njengengane. Iimpawu ze-DMD ziqala ngokuphakathi kweminyaka emi-2 no-6. Umntwana ochaphazelekayo unoku:
- kunzima ukuhamba, ukugijima, okanye ukunyuka kwezitebhisi ngenxa yobuthathaka kwimilenze nangentsimbi
- umzabalazo wokuphakamisa intloko, okanye unentamo ebuthakathaka
- badinga uncedo olusuka phezulu
- uhambe ngemilenze yakhe ngaphandle
- yimile kwaye uhambe ngesifuba sakhe nesisu sagxothwe ngaphandle (okanye siphendule)
- sebenzisa umbane weGower ukuba avuke esezantsi (uhamba izandla zakhe phezulu emilenzeni esikhundleni sokuma ngqo, ngenxa yemisipha yomlenze obuthathaka)
I-Duchenne MD ekugqibeleni ichaphazela zonke izihlunu emzimbeni, kubandakanywa intliziyo nokuphefumula, ngokokuba umntwana ekhula iimpawu ezindala zingabandakanya:
- ukukhathala
- ukuphefumula
- iingxaki zentliziyo ngenxa yentliziyo ekhulisiweyo
- ukulahleka kwamandla okuhamba nge-12 ubudala
- ubuthathaka kwiingalo nezandla
Ukuxilongwa
Ukuxilongwa kweDuchenne MD ngokuqhelekileyo kusekelwe ekuphuhlisweni kweempawu kwiminyaka yokufundela yengane. Abazali okanye ootitshala baqala ukuphawula ukuba inkwenkwe inenkinga yokunyuka izitebhisi okanye ukuhlala kunye nabanye abantwana.
Kwizigaba zokuqala ze-DMD, ukuhlolwa kwegazi nge-creatine kinase (CK okanye i-CPK) kungabonisa amanqanaba aphakamileyo anamaxesha angama-10 ukuya ku-100 aqhelekileyo. Olu vavanyo lubonisa ukuba umonakalo we-muscle uvela kodwa awuqinisekisi ukuxilongwa. Ukuhlolwa kwe-Genetic - ukukhangela ubukho be-DMD geni - yindlela efanelekileyo yokuqinisekisa ukuxilongwa. Xa umntwana sele eyaziwa ukuba ene-DMD, amanye amalungu omndeni angavavanywa ukuze abone ukuba ngubani omnye unokufumana i-gene.
Unyango
Nangona uphando olunzulu malunga neDuchenne MD lwenziwa, akukho nonyango okanye indlela yokwenza ukuba isifo singabi nakwixesha elide. Amachiza e-prednisone anokunciphisa ukulahleka kwemisipha, ukuphucula amandla kunye nokunceda ukubuyisela amandla, kodwa kunemiphumo emibi xa kuthathwa ixesha elide. Amachiza angadinga ukuba athathwe ukuba kukho iingxaki zeentliziyo. Ulwaphulo lwezonyango kunye nokusebenza luncedo ekugcineni uguquko kunye nokuthintela izihlunu ezinobuthakathaka ekungeneni. Umsebenzi we-Aerobic njengokubhukuda kuhle kakhulu kubafana abane-DMD. Ingonyango yokuthetha ingafuneka xa umntwana enenkathazo yokuthetha okanye yokuthetha.
Njengoko eso sifo siyaqhubeka, le nkwenkwe iya kufuna izixhobo ezilungelelaniso ezifana neebraces kunye nesihlalo sabakhubazekile. Ngenxa yeengxaki zokuphefumla, amanye amakhwenkwe angadinga ukuba abe ne-tracheostomy tube agqithwe ngethambo labo (i-windpipe), kwaye abanye bangadinga ukuphefumula.
Ngona kunonophelo olungcono lwezokwelapha, abafana abancinci abane-Duchenne MD abahlali besaphila ngaphaya kweminyaka yabo yesithathu ngenxa yesifo esisongela ubomi kunye neengxaki zokuphefumula eziphuhliswa ngenxa yesifo.
> Imithombo:
> "Duchenne Muscular Dystrophy (DMD)." Izifo. Julayi 2007. Umbutho we-Muscular Dystrophy.
> "I-NINDS Ulwazi lwe-Muscular Dystrophy Page." Ngxaki. 15 Septemba 2008. Isiko seSizwe > se > Iingxaki ze-Neurological and Stroke.
> "Malunga neDuchenne." Ukuqonda iDuchenne. Iprojekthi yoMzali i-Muscular Dystrophy. 1 Oktobha 2008