I-genetic muscle disorder
I-Duchenne muscular dystrophy (i-DMD) ingenye yezinhlobo eziyisishiyagalolunye ze-dystrophy ye-muscular, iqembu lezinkinga zemfuyo ezithinta ukusetshenziswa kwemisipha yokuzithandela emzimbeni. I-Duchenne MD izuzwa njenge- X-linked disorder . Ngenxa yokuthi izuzwe njengefa, i-Duchenne MD ithinta kakhulu abafana. Amantombazane angathola ifa lesandulela-ngculazi se-DMD kodwa angenayo izimpawu zesifo.
I-Duchenne MD ithinta cishe okungu-1 kuwo wonke ama-3 500 azalwa ngokuzalwa kwamadoda (amacala angaba ngu-20 000 amasha ngonyaka ngamunye). Lithinta abantwana bazo zonke izizinda. Isakhi se-DMD sibangela ukungabi khona kwe-dystrophin, iphrotheni esiza ukugcina amangqamuzana e-muscle ahlangene. Lokhu kusho ukuthi amangqamuzana omzimba awonakele kalula futhi abe buthakathaka ngokuhamba kwesikhathi.
Izimpawu
Umfana ophethe i-Duchenne MD ngokuvamile uvame ukukhula njengengane. Izimpawu ze-DMD ziqala phakathi kweminyaka engama-2 no-6. Ingane ethintekile inga:
- kunzima ukuhamba, ukugijima, noma ukukhuphuka izitebhisi ngenxa yobuthakathaka emilenzeni nasesikhwameni
- umzabalazo wokuphakamisa ikhanda, noma unentamo ebuthakathaka
- badinga usizo lokuvuka phansi
- hamba ngezinyawo zakhe
- ume bese uhamba ngesifuba sakhe nesisu sithintekile (noma sabuya emuva)
- sebenzisa umthamo weGower ukuvuka phansi (uhamba izandla zakhe phezulu imilenze esikhundleni sokuma ngqo, ngenxa yemisipha yemilenze engenamandla)
I-Duchenne MD ekugcineni ithinta wonke imisipha emzimbeni, kufaka phakathi izinhliziyo nemisipha yokuphefumula, ngakho lapho ingane ikhula izimpawu ezindala zingabandakanya:
- ukukhathala
- ubunzima bokuphefumula
- izinkinga zenhliziyo ngenxa yenhliziyo ekhulisiwe
- ukulahlekelwa ikhono lokuhamba ngaminyaka eyi-12
- ubuthakathaka ezandleni nasezandleni
Ukuxilongwa
Ukuxilongwa kwe-Duchenne MD ngokuvamile kusekelwe ekuthuthukiseni izimpawu ezinganeni zasenkulisa yengane. Abazali noma othisha baqala ukubona umfana enenkinga yokugibela izitebhisi noma ukuhambisana nezinye izingane.
Esikhathini sokuqala se-DMD, ukuhlolwa kwegazi ku-creatine kinase (i-CK noma i-CPK) kungabonisa amazinga aphezulu aphindwe izikhathi ezingu-10 ukuya kwezingu-100 evamile. Lokhu kuhlola kubonisa ukuthi ukulimala kwemisipha kwenzeke kodwa akuqinisekisi ukuxilongwa. Ukuhlolwa kwegazi - ukufuna ukuba khona kwegciwane le-DMD - kuyindlela engcono kakhulu yokuqinisekisa ukuxilongwa. Uma umntwana eyaziwa ukuthi une-DMD, amanye amalungu omndeni angahlolwa ukuze abone ukuthi ubani omunye ongase abe negalelo.
Ukwelapha
Nakuba ucwaningo oluningi mayelana ne-Duchenne MD lwenziwa, alukho ukwelashwa okwamanje noma indlela yokuvimba lesi sifo ukuba singabi nakakhulu ngokuhamba kwesikhathi. Imithi i-prednisone inganciphisa ukulahleka kwemisipha, ithuthukise amandla, futhi isize ukubuyisela amandla, kodwa inezimo ezimbi kakhulu lapho kuthathwa isikhathi eside. Imithi ingadinga ukuthathwa uma izinkinga zenhliziyo zikhona. Ukwelapha ngokomzimba kanye nokusebenza kuyasiza ekugcineni ukuguquguquka nokuvimbela imisipha ebuthakathaka ekungeneni. Umsebenzi we-aerobic njengokubhukuda kuhle kakhulu kubafana abane-DMD. Ukwelashwa kwenkulumo kungadingeka uma ingane ihlangabezana nobunzima ukukhuluma noma ukukhuluma.
Njengoba lesi sifo siqhubeka, umfana uzodinga amadivaysi afanelekayo njengama-braces nesihlalo sabakhubazekile. Ngenxa yenkinga yokuphefumula, abanye abafana bangase badinge ukuthi babe ne-tracheostomy tube ehlinzekwa ngokuhlinzwa e-trachea yabo (i-windpipe), kanti abanye bangadinga ukuphefumula.
Ngisho nangokwelashwa okungcono kakhulu, insizwa encane ene-Duchenne MD ngokuvamile ayikwazi ukuphila ngaphesheya kwezintathu zokuqala ngenxa yenhliziyo esongela ukuphila nezinkinga zokuphefumula ezakha ngenxa yesifo.
> Imithombo:
> "Duchenne Muscular Dystrophy (DMD)." Izifo. July 2007. I-Muscular Dystrophy Association.
> "I-NINDS Ulwazi lwe-Muscular Dystrophy Page." Izinkinga. 15 Septhemba 2008. Isikhungo sikazwelonke > se > Neurological Disorders and Stroke.
> "Mayelana ne-Duchenne." Ukuqonda i-Duchenne. Iprojekthi ye-Project Muscular Dystrophy. 1 Okthoba 2008