I-Duchenne muscular dystrophy (mdd)
I-Duchenne muscular dystrophy enye yeendlela eziqhelekileyo zesi sifo. Esi sifo siyabonakala malunga nomnyaka wesibini wobomi kwaye senziwa kuphela kumakhwenkwe, edibene ne-X edibeneyo kunye nelifa lelifa. Ezi zilandelayo zibonakaliso zifana ne-DMD.
■ Ubuthakathaka besifo. Kuyabonakala xa umntwana enzima ukuhamba okanye ukunyakaza kwezitho. Umntwana angaqala ukuhamba nge-waddling, akakwazi ukunyuka izitebhisi, evuka ezinyaweni zakhe kuphela ngoncedo lwezandla. Iimpawu zokugqibela ezivela kubuthathaka bemisipha yomgangatho we-pelvic kuthiwa yi-Gauer.
■ Nangona iimfumba zingapheli ukuphumla kwaye akukho ntlungu xa ucinezelekile, isigulane sinzima ukwenza izenzo ezithile. Izihlunu ezichaphazelekayo zibuthakathaka, kodwa zivame ukubonakala zikhulisiwe - le ngqungquthela ibizwa ngokuba yi-pseudohypertrophy.
■ Ukunciphisa ukuhamba. Iimpawu zeendlela zokugqibela zeDMD. Ngokuqhelekileyo kwenzeka ukuba xa ezinye iinhlunu ziyancipha, izihlunu zabo eziphikisanayo zihlala ziqine, kwaye abantwana abagulayo baqala, umzekelo, ukuhamba kwi-tiptoe. Kuba nzima ukugcina isikhundla somzimba, kwaye izigulana zifuna i-wheelchair.
■ Isigulana senza ukuguqulwa kokuqhubeka kunye nokuguqa kwamathambo, ukunyuka, kunye neminyaka eyi-10 ininzi yezigulane zikhubazekile. Izigulane zihlala zifa ngaphambi kweminyaka engama-20. Isizathu sokufa sisifo se-pulmonary, sihamba kunye nobuthathaka bemisipha yokuphefumula, okanye ukuboshwa kwentliziyo.
Iifom ezingaqhelekanga ze-muscular dysstrophy
Kukho ezinye iindidi ze-dysstrophic muscular. I-musy dysstrophy ye-musker isifo esixhomekeke kwi-X-chromosome, enobunono ngaphezu kweDuchenne, ebonakala kwiminyaka emi-5 ukuya kweyesi-25. Abantu abanolu hlobo lwesifo sokudaya i-dystrophy bahlala ixesha elide kunokuba beDMD. I-Dystrophy yamabhinqa ehlombe ayenzeka ngexeshanye efanayo kubantu abesini zesini kwaye ngokuqhelekileyo ibonakaliswe kwiminyaka engama-20 ukuya kwe-30. Phantse ama-50% abantu abajongene nale ndlela yokunyuka komzimba, ubuthathaka bubonakala kwibhinti eliqhekezayo kwaye alukwazi ukusasaza kwibhande elisezantsi, ngelixa kwezinye izihlunu zesisu esiphantsi sithinteka kuqala, kwaye ubuthathaka kwibhande legxala libonakala emva kweminyaka eyi-10. Inkqubo yesi sifo idla ngokuthe tye kunezo zi gulane eziqala ukuba zinemilenze ephezulu. I-shoulder-flap-facial muscular dystrophy izuze i-autosomal mechanism kwaye ichaphazela ngokufanayo ngokuqhelekileyo ubuso bobabini besini. Iyakwenzeka nanini na ubudala, kodwa ngokuqhelekileyo ibonakala okokuqala ngqa kwiintsholongwane. Olu hlobo lwe-dystrophy lubonakaliswa yi-"pterygoid" yesi-scapula. Abanye abantu bane-lumbar lordosis eqinile (ukucheba komlenze). Ubuthathaka bobuhlungu buso bubangela ukuba abantu abakwazi ukukhwaza umlozo, bakhuphe imilomo yabo okanye bavale amehlo abo. Kuxhomekeke kwiiqela lezihlunu ezichaphazelekayo, ukumbamba kunye nokunyakaza kwamanwe kuncinci okanye i-"stop stop" ingabonakala. Akukho unyango lwe-muscular dystrophy, kodwa iingxaki ezinjengezonyango zokuphefumula kunye ne-urinary, zifuna i-antibiotics.
Utyando luquka imisebenzi elandelayo:
■ Ukuzivocavoca umzimba - oku kunokunciphisa ukuphuhliswa kobuthathaka kunye nokunciphisa ukuhamba; ukusetyenziswa kwezicwangciso phantsi kolawulo lwe-physiotherapist luncedo kakhulu.
∎ Ukwelula kwamathambo, okwenza ukuba kufutshane.
■ Ngokubonakala kwimeko yokukhubazeka kunye neengqungquthela zomthunzi, kulungiswe i-corsets yokulungisa.
■ Ukutsalathisa ukutshitshiswa kweetoni ezifutshane.
■ Uncedo lweengqondo lubaluleke kakhulu; Inkxaso ebalulekileyo kwintsapho kunye nenduduzo yendlu.
Ukuxhamlaza nokuxhatshazwa
Kwezinye iimeko, ngokukodwa nge-Duchenne's dysstrophy, ukugxekwa kwesi sifo akunakulungeleka. Iqondo lokukhubazeka linokubaluleka kakhulu, kunye nezigulane zexesha zingayeka ukuhamba. Uninzi lwezigulane ezine-dysstrophy yebhanti yegxina lunokuncedwa ukukhokelela ngokupheleleyo, nokuba uguqule ubomi obuncinane kwiminyaka engama-20-40, ngamanye amaxesha ngaphezulu. Abantu abahlakulela i-muscular dysstrophy ekupheleni kwexesha elivisayo banesifo esilungileyo. Iprophylaxis ye-dystrophy ye-muscular ayinakwenzeka, nangona ukufumanisa kwe-gene defective kuye kwandisa amathuba okunyanga kwamayeza.
Ukusasazeka kwesi sifo
I-muscular dystrophy isifo esingaqhelekanga, kodwa ixhaphake kuwo wonke umhlaba phakathi kwabantu bazo zonke iintlanga. Ifomu eqhelekileyo - I-Duchenne muscular dysstrophy - ivela ngexesha elimalunga nama-3 amatyala angama-10 000 amakhwenkwe.
Izizathu
Zonke iintlobo ze-dysstrophy ye-muscular zibangelwa zizidalwa zendalo, nangona kubangelwa isizathu esiyiyo sokuchithwa kwemisipha yomzimba. Mhlawumbi imbangela eyona nto iphulaphulwa kwi-cell membrane, engahambisani nokulawula i i-calcium ioni, esenza i-proteases (i-enzymes) inokubangela ukutshatyalaliswa kwemisipha yomzimba. Ukuxilongwa kwangaphambi kokubeletha kwindlela yokufunda i-amniotic fluid ngaphambi kokunikezelwa. Nangona kunjalo, abazali abajongene ne-muscular dystrophy, ngaphambi kokuba babe nosana, badinga ukunikwa iingcebiso ngezokwelapha.
Diagnostics
Iziganeko ezincinci eziqhubekela phambili zibonakaliswa klinikhi. Kwizigulane, ngakumbi kwi-dystrophy yaseDuchenne, kukho izinga eliphezulu le-creatine kinase egazini. Ukuze kuhlukaniswe i-dysstrophy kwezinye izifo, kunokufuneka ukuba wenze i-electromyography. Ukuxilongwa ngokuqhelekileyo kuqinisekisa ukuba i-biopsy; Ucwaningo olusisiseko lukunceda ukuhlukanisa i-dystrophy kwezinye iindidi ze-myopathies.