I-Duchenne i-dystrophy yemisipha (mdd)
I-dystrophy muscular dystrophy ingenye yezinhlobo ezivame kakhulu zalesi sifo. Lesi sifo siyabonakala cishe ngonyaka wesibili wokuphila futhi senzeke kubafana kuphela, okuhambisana ne-X ehlanganisiwe uhlobo lwefa. Izimpawu ezilandelayo zijwayelekile ku-DMD.
■ ubuthakathaka bemisipha. Kuyabonakala uma ingane ihamba nobunzima bokuhamba noma ukunyakaza kwezitho. Ingane ingaqala ukuhamba nge-waddling, ayikwazi ukukhuphuka izitebhisi, ivuka ngezinyawo kuphela ngosizo lwezandla. Isibonakaliso sokugcina esivela ebuthakathakeni bemisipha ye-pelvic ebizwa ngokuthi yi-Gauer.
■ Nakuba imisipha ingaphuzi ukuphumula futhi ayikho ubuhlungu lapho icindezelwe, isiguli sinzima ukwenza izenzo ezithile. Imisipha ethintekile ibuthakathaka, kepha ivame ukubonakala ikhulisiwe - lesi simo sibizwa ngokuthi i-pseudohypertrophy.
■ Ukunciphisa ukuhamba. Isimo sezinyathelo ezisheshayo ze-DMD. Ngokuvamile kwenzeka ukuthi lapho imisipha ethile ibuthakathaka, imisipha yabo ephikisanayo ihlale iqinile, futhi izingane ezigulayo ziqala, ngokwesibonelo, ukuhamba nge-tiptoe. Kuba nzima ukugcina isikhundla somzimba, futhi iziguli zingadinga isihlalo sabakhubazekile.
■ Isiguli siqala ukuguqulwa nokuguqulwa kwamathambo, ukukhathala, kanye neminyaka eyi-10 iningi leziguli likhubazekile. Iziguli ngokuvamile ziyafa ngaphambi kweminyaka engama-20. Isizathu sokufa yisifo sofuba, okuhambisana nobuthakathaka bemisipha yokuphefumula, noma ukuboshwa komzimba.
Izinhlobo ezingavamile ze-muscular dystrophy
Kunezinhlobo zezinye izinhlobo ze-dystrophy yemisipha. I-dystrophy ye-Becker ye-muscular isifo esixhunyaniswe ne-X-chromosome, enobuningi ngaphezu kwe-Duchenne's, ebonakala eneminyaka engu-5 kuya kweyengu-25. Abantu abanalo hlobo lokudaya umzimba bahlala isikhathi eside kunokuba ne-DMD. I-Dystrophy yebhande lehlombe ivela ngesilinganiso esifanayo kubantu bobulili bobabili futhi ngokuvamile ibonakala eminyakeni engu-20-30. Cishe abantu abangama-50% ababhekene nalolu hlobo lokudoba umzimba, ubuthakathaka buvela ebhinceni eliqhakazile futhi angeke lusakaze ebhanini elingaphansi komzimba, kuyilapho kwabanye imisipha yesisu esiphansi isithintekile kuqala, kanti ubuthakathaka ebhande lehlombe livela ngemva kweminyaka eyishumi. Inkambo yesifo ngokuvamile ibonakala ingenangqondo kulezi ziguli eziqale zinezitho ezingaphezulu. I-dystrophy ye-blind-flap ebusweni bomzimba izuzwa i-autosomal mechanism esebenzayo futhi isithinta ngokufanayo ngokufanayo ubuso bobulili bobabili. Kungenzeka nanoma yisiphi isikhathi, kodwa ngokuvamile kubonakala okokuqala kubantu abasha. Loluhlobo lwe-dysstrophy lubonakala nge-"pterygoid" ye-scapula. Abanye abantu bane-lumbar lordosis eqinile (ukuvuthwa komgogodla). Ubuthakathaka bemisipha ebusweni buholela eqinisweni lokuthi abantu abakwazi ukumemeza ngekhanda, badonsa izindebe zabo noma bavale amehlo abo. Kuye ngokuthi yiziphi amaqembu ezisiphazamiso ezithintekayo, ukunyakaza nokunyakaza kwamanwe amancane kungancipha noma "ukuma okulenga" kungavela. Ayikho yokwelapha ye-muscular dystrophy, kodwa izinkinga, ezifana nokutheleleka kokuphefumula kanye namagciwane, zidinga ama-antibiotic.
Ukwelashwa kuhlanganisa imisebenzi elandelayo:
■ Ukuzivocavoca umzimba - lokhu kunganciphisa ukuthuthukiswa kobuthakathaka nokunciphisa ukuhamba; ukuvivinya izakhiwo ngaphansi kokuqondiswa kwe-physiotherapist kuyasiza kakhulu.
■ Ukwelula kwamathenda, okuvame ukufinyezwa.
■ Uma kubonakala ukukhubazeka nokuphefumula komgogodla, ukulungiswa kwe-corsets kuyadingeka.
■ Ukuthambisa okuhlinzekwayo kwamathenda amancishisiwe.
■ Ukusizwa kwengqondo kubaluleke kakhulu; ukwesekwa okubalulekile emndenini womndeni nendlu.
Ukuphawula nokukhubazeka
Kwezinye izimo, ikakhulukazi ngokudonswa komzimba kaDuchenne, ukubikezelwa kwesifo akubi. Isimo sokukhubazeka singabalulekile kakhulu, ngesikhathi iziguli zingase ziyeke ukuhamba. Iningi leziguli ezine-dystrophy ebhande lehlombe zingasizwa ukuhola ngokugcwele, noma ngabe impilo ishintshile kancane eminyakeni engama-20-40, futhi ngezinye izikhathi ngaphezulu. Abantu abahlakulela i-dystrophy ye-muscular ngasekupheleni kweminyaka yobudala bavame ukuhlaselwa okungcono. I-prophylaxis ye-dystrophy ye-muscular ayikakwenzeka, nakuba ukutholakala kwesakhi sofuzo kuye kwandisa amathuba okuthola i-gene.
Ukuvama kwesifo
I-dystrophy yama-muscular iyisifo esingavamile, kodwa kuvamile kuwo wonke umhlaba phakathi kwabantu bazo zonke izinhlanga. Ifomu elivame kakhulu - I-Duchenne muscular dystrophy - iyenzeka ngezimvuthwandaba ezingaba ngu-3 amacala angama-10 000 abafana.
Izimbangela
Zonke izinhlobo ze-dysstrophy yemisipha zibangelwa yizimbangela zofuzo, nakuba imbangela eqondile yokuwohloka kwezicubu zesisindo aziwa. Mhlawumbe imbangela eyinhloko ukuphulwa embranini yeseli, engalawuleki idlula i-calcium ions esitokisini, eyenza ama-protease (ama-enzyme) abambe iqhaza ekubhujisweni kwemisipha yomzimba. Ukuxilongwa kwangaphambi kokubeletha ngendlela yokutadisha i-amniotic fluid ngaphambi kokubeletha. Noma kunjalo, abazali ababhekene ne-muscular dystrophy, ngaphambi kokuba babe nengane, badinga ukwelulekwa ngezokwelapha kwezokwelapha.
Ukuhlonza
Amacala aqhubekayo okuqhubekayo okuphuthumayo abonakala emtholampilo. Ezigulini, ikakhulukazi ngokudonswa komzimba kaDuchenne, kunezinga eliphezulu le-creatine kinase egazini. Ukuze kuhlukaniswe ukushayeka komzimba kwezinye izifo, kungadingeka ukwenza i-electromyography. Ukuxilongwa kuvame ukufakazela ukuthi i-biopsy; Ucwaningo lwe-hertochemical lusiza ukuhlukanisa i-dystrophy kwezinye izinhlobo ze-myopathies.