Funda kabanzi malunga ne-AMC, i-Congenital Defect of Joints
I-arthrogryposis okanye i-arthrogryposis multiplex congenita (AMC) ligama elinikezelwa kwiqela leengxaki ezibonakaliswe ngokuphuhliswa kwezivumelwano ezininzi ezidibeneyo kuwo wonke umzimba. Isivumelwano siyimeko apho umdibaniso uba lukhuni kwaye ugxininiswe kwindawo egobileyo okanye echanekileyo, obangela ukuthintela ekuhambeni kwaloo mbambano.
Isimo siqala ngaphambi kokuzalwa ( sisiphene sentsholongwane ) kunye nase-US, senzeka malunga nanye nganye i-3,000 izalwa ngokuzalwa, echaphazela abantu abesilisa nabesifazane bazo zonke iintlanga.
Ingaphezulu kwesinye isidumbu somzimba kufuneka sichaphazeleke ngenxa yesifo esiza kuthiwa yi-arthrogryposis. Ukuba inkontileka yokuzalwa komntwana isenzeka kuphela kwindawo enye yomzimba (njengezinyawo, imeko ebizwa ngokuba yi- clubfoot ) ngoko ke yintsebenziswano yokuzalwa engenamzali kwaye ayiyi-arthrogryposis.
Xa iindawo ezimbini okanye ezahlukeneyo zomzimba zichaphazeleka yi-arthrogryposis, loo mqathango ungabhekiswa njenge-arthrogryposis multiplex congenita (AMC) kwaye ngamanye amaxesha amagama amabini asetyenziswa ngokungafaniyo. Kukho iintlobo ezingaphezu kwe-150 ze-AMC, kunye ne-amyoplasia yinto eqhelekileyo kunye nokubalwa kweengxelo ezingaphezu kwe-40% yazo zonke iimeko ze-AMC.
Izizathu eziqhelekileyo zeArthrogryposis Multiplex Congenita (AMC)
I-arthrogryposis ibangelwa kubangelwa ukunyuka kwesisu kwisisu. Umntwana ufuna ukunyakaza emilenzeni ukuphucula imisipha kunye namalungu. Ukuba amajoyina akahambanga, izicubu ezixhamlayo ziqala ukudibanisa kunye kunye nokuzilungisa.
Ezinye zezinto ezibangela ukunyuka kwe-fetal zinciphile:
- Iimpazamo okanye ukungasebenzi kweenkqubo zesistim esisisiseko (isizathu esivamekileyo), njenge- spina bifida , ukukhubazeka kwengqondo, okanye i-orrophy muscular spray
- Ingxaki ye-neuromuscular heritage (i-myotonic dystrophy), i-myasthenia gravis, okanye i- multiple sclerosis
- Ukukhulelwa kwabazali ngexesha lokukhulelwa njengesihlunu saseJamani (rubella) okanye i-rubeola
- Umkhuhlane womama ongaphezu kwe-39C (102.2F) ixesha elide, okanye ukunyuka kwamaqondo omzimba womama obangelwa ngumama wokutshiza ixesha elide kwiibhubhu ezifudumeleyo
- Ukukhulelwa komama kwizinto ezinokulimaza umntwana, ezifana neziyobisi, utywala, okanye imithi yokulwa ne-anti-seizure ebizwa ngokuba yi-phenytoin (i-Dilantin)
- I-amniotic encinci yamanzi okanye i-amniotic fluid engapheliyo, inokubangela indawo encinci ye-fetus ukuba ihambe
Iimpawu ze-AMC
Izivumelwano ezidibeneyo ezifunyanwe kwintsana ene-arthrogryposis ziyahluka ukusuka kumntwana ukuya kumntwana, kodwa kukho iziganeko eziqhelekileyo eziqhelekileyo:
- Imilenze kunye neengalo zichaphazelekayo, kunye neentloko kunye neenqunu zona ziphosakeleyo kakhulu (cinga ngomntwana obanjwe ngaphakathi kwesibeleko, kwaye uvalelwe kuloo ndawo)
- Amalungu emilenzeni kunye neengalo azikwazi ukuhamba
- Imisipha kwimilenze kunye neengalo zincinci kwaye zibuthathaka okanye zingekho
- Iinqumlo zingasuswa
Ezinye iintsana ezine-arthrogryposis zinokukhubazeka komzimba, ukukhawulwa komlenze, ukukhubazeka komzimba, iingxaki zomzimba kunye neentsholongwane zokuphefumula, kunye neziphoso zesikhumba.
Unyango lweArthrogryposis Multiplex Congenita
Akukho nonyango ye-arthrogryposis, kwaye unyango lujoliswe kwiimpawu ezithile umntu anokufumana.
Ngokomzekelo, unyango olusisigxina lomzimba lunokunceda ukunweba amajoyina kunye nokuphuhlisa izihlunu ezibuthathaka. Iziplintshi zinokukunceda ukunweba amanxeba, ngakumbi ebusuku. Utyando lwe-orthopedic luyakwazi kwakhona ukukhulula okanye ukulungisa iingxaki ezidibeneyo.
I-ultrasound okanye i-computed tomography (CT) yokukhangela iyakwazi ukubona nayiphi na inkqubo engundoqo ye-nervous system. Ezi zinokuthi okanye zingenakufuna ukuhlinzwa ukunyanga. Ukukhubazeka kwentliziyo ebangelwa yintsholongwane kungadinga ukulungiswa.
Ukuxela i-AMC
Ubomi bomntu one-arthrogryposis buqhelekile kodwa buya kutshintshwa ziintsilelo zentliziyo okanye iingxaki zesistim seengxaki.
Ngokuqhelekileyo, ukugxekwa kwabantwana abane-amyoplasia kulungile, nangona abantwana abaninzi befuna unyango olunzulu iminyaka. Phantse ezibini kwisithathu ekugqibeleni ziyakwazi ukuhamba (kunye okanye ngaphandle kwe-braces) kwaye uye esikolweni.
Imithombo:
I-National Organisation for Rare Diseases. Arthrogryposis Multiplex Congenita. Kufumaneke ngo-Feb 13, 2016.