Ingabe ingane yakho ihlushwa ukuxhuga? Ake sifunde nge-Arthrogryposis Multiplex Congenita.

Awekho amagama okuchaza injabulo esiyitholayo lapho sibheka umntwana osanda kuzalwa, akunjalo? Kodwa ngezinye izikhathi, izingane zethu zingaba nezinkinga ezincane zempilo. Namuhla sizokhuluma ngesimo esingavamile ukuzwakala ngaso, kodwa okubaluleke kakhulu ukusiqaphela. Leso yisimo esibizwa ngokuthi i-arthrogryposis.

Kuyini i-Arthrogryposis?

Kalula nje, i-Arthrogryposis Multiplex Congenita (AMC) yisimo lapho umntwana ezalwa enamalunga angaphezu kwelilodwa angakwazi ukugoba noma ukuqondisa . Igama elithi 'Artho' lisho ilunga, kanti elithi 'gryposis' lisho ukugoba noma ukugoba. Lesi akusona isifo esisodwa, kodwa yiqembu lezimo ezingaphezu kuka-300 . Isibonelo, singabonakala ngezifo zemisipha njenge-Muscular Dystrophy kanye nezimo zofuzo njenge-Trisomy 18 - Edwards Syndrome.

Manje, uma sithi 'ukuqina kwamalunga', odokotela bakubiza lokhu ngokuthi '(ukugoba)'. Okusho ukuthi, imisipha yengane, isikhumba, kanye nemisipha '(ama-tendon)' kuqina unomphela , ngakho-ke amalunga afinyezwa, futhi awakwazi ukugoba noma ukwelula kahle. Cabanga ngakho, amalunga ayizindawo ezifana nezihlakala zethu, izinqe, amadolo, kanye nezintamo. Lawa malunga yiwo asisiza ukuba sinyakaze. Ngakho-ke, ezinganeni ezine-arthrogryposis, la malunga anobunzima bokunyakaza kahle. Angase aqine ngokuphelele, noma angase agwegwe, noma angase aqonde futhi anamathele endaweni eyodwa .

Yiziphi izimpawu ezikhethekile eziboniswa yingane kulesi simo?

Izingane ezine-arthrogryposis zinezici eziningana ezihlukile lapho zizalwa. Kodwa-ke, lezi zici zingahluka kusuka komntwana oyedwa kuya komunye, ngisho nangaphakathi komndeni ofanayo. Izici ezivame kakhulu yilezi:

• Amahlombe ayehliswa bese umzimba uphendukela ngaphakathi.
• Leyo enendololwane enwetshiwe (kunzima ukuyigoba).
• Leyo enezingalo neminwe egobile ngaphakathi futhi inamathele.
• Amathambo enqulu kungenzeka ukuthi aphumile.
• Lowo omadolo evulekile.
• Izinyawo zijikisiwe phansi futhi zingene ngaphakathi (njenge-`(Clubfoot)`).
• Umgogodla ungase ugobe ohlangothini olulodwa (ukugoba komgogodla).

Lezi zimpawu azifani kuwo wonke umuntu. Abanye abantu bangase babe nesinye noma ezimbili zalezi, kanti abanye bangase babe neziningi. Futhi, kungathinta amalunga amakhulu kanye namalunga amancane . Lokhu kusho ukuthi kungathinta yonke into kusukela ezinzwaneni kuya emahlombe.

Ingabe zikhona izinhlobo eziyinhloko ze-arthrogryposis?

Yebo, sikhuluma kakhulu ngezinhlobo ezimbili:

• (Amyoplasia) : Kulokhu , amalunga ezitho athinteka kakhulu .
• (Distal Arthrogryposis) : Kulolu hlobo , ukuqina kwenzeka ezandleni nasezinyaweni (amalunga akude) , futhi amalunga amakhulu njengamahlombe nezinqe awathinteki kakhulu.

Sivame kangakanani lesi simo?

I-Arthrogryposis empeleni ayiyona inkinga evamile . Ngokuvamile i-arthrogryposis ayiyona inkinga evamile.Lesi simo sinethuba lokwenzeka cishe koyedwa kwabangu-3,000 abazalwa bephila.

Ingabe lokhu kuyinto yofuzo? Ingabe kuyinto evela ezizukulwaneni ngezizukulwane?

I-Arthrogryposis yisimo sokuzalwa . Lokhu kusho ukuthi izimpawu ziqala ngaphambi kokuzalwa . Ezimweni eziningi , imbangela eqondile ayaziwa . Kodwa-ke, kungenzeka ukuthi ibangelwa ukuphazamiseka kwezakhi zofuzo . Ochwepheshe bathole izakhi zofuzo ezingaphezu kuka-400 eziguquliwe ezihlobene ne-arthrogryposis. Bathole futhi izixhumanisi nezifo zezakhi zofuzo ezingaphezu kuka-35 .

Uyini umehluko phakathi kwe-arthrogryposis kanye ne-isolated contracture congenital?

Umbuzo omuhle. `(Isolated Congenital Contracture)` kusho ukuthi kukhona ukuqina kwamalunga engxenyeni eyodwa yomzimba kuphela . Isibonelo, wake wababona yini abantwana abazalwa benonyawo olulodwa kuphela olugobile ngaphakathi? Lokho kubizwa ngokuthi `(Clubfoot)`. Lokho `(isolated congenital contracture)`. Kodwa ku-arthrogryposis, kungaba nokuqina kwamalunga ezingxenyeni ezimbili noma ngaphezulu zomzimba .

Yini ebangela i-arthrogryposis (AMC)?

Ezimweni eziningi, imbangela eqondile ye-arthrogryposis ayicaci . Kodwa-ke, kunezici eziningana ezivamile okucatshangwa ukuthi zinegalelo kulesi simo:

• Ingane (umntwana) ingakwazi ukunyakaza njengoba ikhula esibelethweni . Lokhu kungabangelwa ukungabi khona koketshezi oluningi lwe-amniotic, ukuba nomunye umbungu (njengamawele), noma ukuma okungavamile kwesibeletho. Lapho umbungu ungakwazi ukuhambisa amalunga kahle, izicubu ezengeziwe ziyanqwabelana kulawo malunga, ziwacindezele .
• Izimo ezithile zezokwelapha umama okhulelwe anazo . Isibonelo, isifo esifana `(Multiple Sclerosis)`. Uma othile emndenini wakho ene-`(Multiple Sclerosis)`, ungase ube sengozini enkulu.
• Izifo zofuzo . Isibonelo, izimo ezifana ne-"Muscular Dystrophy".
• Izifo Zesimiso Sezinzwa Esiphakathi . Lokhu kufaka phakathi ubuchopho nomgogodla. Izibonelo zifaka phakathi izifo ezifana ne-`(Moebius Syndrome)` kanye ne-`(Spina Bifida - Meningomyelocele)`.
• Izifo Zesistimu Yezinzwa Nemisipha . Isibonelo, i-Myasthenia Gravis.
• Izifo Zezicubu Ezixhumeneyo . Izibonelo zifaka phakathi `(Dysplasia)` kanye `(Metatropic Dwarfism)`.

Kwezinye izimo, kucatshangwa ukuthi inhlanganisela yezici zofuzo kanye nezemvelo ingadlala indima ekubangeleni i-arthrogryposis.

Ziyini ngempela izimpawu ze-arthrogryposis?

Izimpawu ze-arthrogryposis zingahluka kakhulu kumuntu nomuntu . Ngisho nangaphakathi komndeni ofanayo, izimpawu zomuntu oyedwa zingase zihluke noma zibe zimbi kakhulu kunezomunye.

Izimpawu ezivamile yilezi:

• Ikhono elincane lokuhambisa amalunga amancane namakhulu.
• Mhlawumbe amalunga amancane namakhulu awakwazi ukunyakaziswa nhlobo.
• Ukukhula kwemisipha okunciphile (imisipha engaphansi kwe-plastic).
• Izingalo zithambile futhi zimise okwepayipi.
• Ulwelwesi olufana nesikhumba (izicubu ezithambile) lwakheka phezu kwamalunga, luvimbela ukunyakaza kwamalunga.

Izici ezengeziwe abantu abaningi abaziqaphelayo :

• Amathambo amade ezingalo nemilenze mancane ngendlela engavamile futhi aphuka kalula.
• I-Cryptorchidism ukwehluleka kwama-testicles (ama-testes) ukwehla aye emathunjini kubafana.

Izici ezibonwa abantu abambalwa kuphela :

• Izinqe eziphukile, izindololwane, noma amadolo.
• Izinkinga ngesakhiwo sesimiso sezinzwa esiyinhloko (ubuchopho bakho kanye nomgogodla).
• Izinkinga ngokusebenza kwesimiso sezinzwa esiyinhloko (okungukuthi, indlela esisebenza ngayo).

Abantu abane-amyoplasia ngokuvamile abanazo izinkinga ngezitho zangaphakathi noma ukusebenza kwengqondo . Kodwa-ke, cishe u-10% bangase babe nezinkinga ngesisu. Izibonelo:

• I-Gastroschisis: Lokhu kusho imbobo esiswini.
• `(I-Intestinal Atresia)`: Lokhu kusho ukuvaleka kwamathumbu.

Amalunga emilenze avame ukuthinteka. Amalunga ezandla yiwo alandelayo. Ngaphezu kwalokho, la malunga angathinteka njalo:

• Amahlombe
• Amadolo
• Indololwane
• Iqakala
• Iminwe
• Ingalo
• Izinzwane
• Izinqe
• Ilunga lomhlathi

I-arthrogryposis (AMC) ihlala isikhathi esingakanani?

I-Arthrogryposis yisimo esingelapheki ngokuphelele . Kodwa-ke, kunezindlela zokwelapha ezingathuthukisa ikhwalithi yempilo yakho . Ukwelashwa ngokomzimba, ikakhulukazi, kungakusiza ngemisebenzi yansuku zonke njengokugqoka nokuphuza amanzi.

Wazi kanjani ukuthi une-arthrogryposis (AMC)?

Ngezinye izikhathi, lesi simo singatholakala ngaphambi kokuba umntwana azalwe . Uma ukuhlolwa okuvamile kwe-ultrasound ngesikhathi sokukhulelwa kubonisa ukukhubazeka ezithweni zomntwana, kungase kusolwe ukuthi kungenzeka ukuthi i-arthrogryposis. Odokotela bavame ukubona lezi zinkinga zamalunga enyangeni yesibili yokukhulelwa . Ngaleso sikhathi, udokotela angakuthumela ukuze uthole ukwelulekwa ngofuzo .

Umeluleki wakho wezakhi zofuzo uzokunikeza ulwazi mayelana nezimo zofuzo ezingathinta ingane yakho. Uzobuza ngomlando wempilo yomndeni wakho futhi ancome noma yikuphi ukuhlolwa kwezakhi zofuzo okudingekayo. Isibonelo:

• `(Ukusampula Kwe-Chorionic Villus - CVS)`
• `(I-Amniocentesis)`

Ngisho nangemva kokuzalwa komntwana, odokotela bangakwazi ukuxilonga lesi simo ngokubheka izimpawu zakhe nokwenza izivivinyo ezahlukene . Lezi zivivinyo zifaka:

• Izifundo Zokuqhutshwa Kwezinzwa: Zilinganisa ukuthi imizwa kagesi ihamba ngokushesha kangakanani ngemizwa.
• I-Electromyography (EMG): Iqopha umsebenzi kagesi wemisipha.
• `(I-Muscle Biopsy)`: Kuthathwa ingxenye encane yomsipha bese ihlolwa.
• Ukulandelana Kwezakhi Zofuzo: Ukuhlonza izakhi zofuzo eziguquliwe.
• Ukuhlolwa kwegazi: Bheka ukukhubazeka kwezakhi zofuzo nama-chromosome.
• `(I-Comparative Genomic Hybridization (CGH) array)`: Ithola izinguquko kuma-chromosome.
• I-Microarray: Ihlaziya izinkulungwane zezakhi zofuzo ngesikhathi esisodwa.
• Izifundo ze-Exome: Thola izinguquko ezahlukahlukene ezakhiweni zofuzo.

Ngezinye izikhathi odokotela bathembele ekuhlolweni kwezithombe njenge-ultrasound kanye ne-EMG.

Uma udokotela wakho esethole imbangela engaba yimbangela ye-arthrogryposis yakho , uzokwakha uhlelo lokwelapha . Ungasiza ekwakheni lolo hlelo.

Iphathwa kanjani i-arthrogryposis (AMC)?

Nakuba kungekho ukwelashwa okuqondile kwe-arthrogryposis, ukwelashwa kungathuthukisa kakhulu ikhwalithi yokuphila kwengane .

Khumbula, lesi akusona isimo esivimbela ingane ukuba iphile impilo enhle. Ngokwelashwa okufanele, izinto eziningi zingafezwa ngempumelelo.

Ngenxa yokuthi izimbangela ze-arthrogryposis ziyahlukahluka kuwo wonke umuntu, ukwelashwa kuyahlukahluka kuye ngomuntu .

Izindlela zokwelapha ezivame ukusetshenziswa kakhulu ze-arthrogryposis yilezi:

• Ama-cast asetshenziselwa ukuvimba amalunga aqinile . Lawa ashintshwa kancane kancane ukuze enze ilunga liguquguquke kakhudlwana.
• Ukwelashwa ngokomzimba : Lokhu kuthuthukisa ukuhamba kwamalunga futhi kuvimbele ukuwohloka kwemisipha.
• Ukuphathwa Kwamalunga : Kulokhu, uchwepheshe ushukumisa amalunga ngobumnene.
• Ukuzivocavoca Kokwelula : Lokhu kwandisa ukuguquguquka kanye nobubanzi bokunyakaza kwamalunga.
• Ukuhlinzwa . Ukuhlinzwa kungenziwa ukuze kwandiswe ukunyakaza kwamalunga njengeqakala, isinqe, idolo, isihlakala, noma indololwane. Umgomo oyinhloko lapha ukuthuthukisa ukusebenza kwengane . Lokhu kuhilela ukukhulula amathambo ezicutshini ezivimbela ukunyakaza, okuvumela imisipha ukuthi ifinyele futhi inyakaze. Kodwa-ke, ukuhlinzwa kwenziwa ezimweni ezimbalwa kakhulu .

Ochwepheshe batusa indlela yokusebenzisa imikhakha eminingi . Lokhu kusho ukuthi ingane yakho ingadinga ukwelashwa okungaphezu kokukodwa. Imiphumela emihle kakhulu itholakala uma iqembu lodokotela nabelaphi besebenza ndawonye.

Ingabe ngidinga ukubona ochwepheshe?

Yebo, impela. Kukhona ochwepheshe abaningana abangasiza ingane yakho nge-arthrogryposis. Isibonelo:

• Udokotela wezingane
• Udokotela wamathambo (uchwepheshe wamathambo namalunga)
• Udokotela ogxile ezifweni zemizwa (i-Neurologist)
• Isazi Sezakhi Zofuzo Sezokwelapha
• Udokotela Wokuvuselela
• Udokotela Wezokwelapha Umzimba

Bonke laba bantu basebenzisana ukudala uhlelo lokwelapha olungcono kakhulu lwengane yakho.

Ingabe kukhona ukwelashwa okungenziwa ekhaya?

Abantu abaningi abane-arthrogryposis bazodinga ukwelashwa ngokomzimba ebusheni babo bonke . Abelaphi bezokuzivocavoca bazokufundisa izivivinyo ongazenza ekhaya . Kubaluleke kakhulu ukwenza lokhu ngendlela efanele.

Ingabe i-arthrogryposis (AMC) ingavinjelwa?

Lokhu kungaphezu kwamandla akho . Akukho obekungakwenza ukunciphisa ingozi yengane yakho yokuthola i-arthrogryposis. Ngakho-ke ngicela ungazibeki icala .

Liyini ikusasa lomuntu one-arthrogryposis (AMC)?

Umbono wesikhathi eside wabantu abane-AMC uncike ezintweni eziningana:

• Ubunzima be-arthrogryposis.
• Imbangela eyinhloko ye-arthrogryposis.
• Indlela umzimba wakho noma wengane yakho osabela ngayo ekwelashweni .

Kodwa izindaba ezinhle ukuthi iningi labantu abane-arthrogryposis baphila njengabantu abadala abazimele . Ukwelashwa kungathuthukisa ukuhamba kwabo kangangokuthi bangaphila impilo evamile, njengabantu abangenayo i-arthrogryposis.

Ingabe i-arthrogryposis iba yimbi ngokuhamba kwesikhathi?

I-Arthrogryposis akuyona inkinga eqhubekayo . Lokhu kusho ukuthi ukuqina kwamalunga akubi kubi ngokuhamba kwesikhathi. Kodwa-ke, isimo esiyisisekelo esibangela lokhu singaba sibi ngezinye izikhathi . Ngakho-ke, uma odokotela sebeqinisekisile ukuthi ingane yakho ine-arthrogryposis, kuwumqondo omuhle ukwazi ngezimbangela ezingaba khona.

Yimiphi imibuzo okufanele ngiyibuze udokotela mayelana ne-arthrogryposis?

Ukubuza imibuzo kudokotela wakho kungakusiza ukuthi uqonde kangcono i-arthrogryposis. Cabanga ngokubuza udokotela wakho le mibuzo mayelana nokuxilongwa kwengane yakho:

• Hlobo luni lwe-arthrogryposis ingane yami enalo?
• Kuyoze kube nini ingane yami ifake i-cast?
• Yikuphi ukwelashwa okungcono kakhulu enganeni yami?
• Yibaphi ochwepheshe okufanele ingane yami ibabone?
• Siqala nini ukwelashwa ngokomzimba?
• Ingabe ikhona imithi ingane yami okudingeka iyithathe?
• Ngingamsiza kanjani kangcono ingane yami?

Abantu abane-arthrogryposis bazalwa benamalunga aqinile noma angashukumi. Bangase babe nobunzima ngemisebenzi yansuku zonke, njengokuhamba noma ukubamba indebe. Abantu abaningi badinga ukwelashwa ngokomzimba futhi ngezinye izikhathi ukuhlinzwa ukuze bathuthukise ikhwalithi yokuphila kwabo.

Into yokugcina umzali afuna ukuyizwa ukuthi kukhona okungahambi kahle ngosana lwakhe olungakazalwa noma olusanda kuzalwa. Sicela ungazibeki icala . Akukho lutho obungakwenza ngendlela ehlukile. Uma udinga usizo lokubhekana nalesi simo esinzima, khuluma nodokotela wakho mayelana nokwelulekwa kanye namaqembu okusekela. Awuwedwa . Kuneminye imindeni edlula ezimweni ezifanayo.

Okokugcina, khumbula lokhu (Umyalezo Wokuya Ekhaya)

I-Arthrogryposis yisimo lapho umntwana ezalwa khona enelungu elilodwa noma ngaphezulu eliqandisiwe futhi elingakwazi ukunyakaza kahle. Kungase kuzwakale kusabisa, kodwa khumbula ukuthi ngokwelashwa okufanele nokunakekelwa ngothando, laba bantwana bangaphila impilo enhle kakhulu .

Nakuba imbangela ethile ingatholakali njalo, izakhi zofuzo kanye nezimo ezithile ngesikhathi sokukhulelwa zingadlala indima . Kubaluleke kakhulu ukuyikhomba kusenesikhathi bese uqala ukwelashwa njengokwelashwa ngokomzimba, ukukhishwa kwe-casting uma kudingeka, kanye nokuhlinzwa okungajwayelekile.

Khumbula, lokhu akuyona into engavinjelwa, ngakho njengabazali, ningadangali . Sebenzisana nethimba lenu lezokwelapha futhi ninikeze ingane yakho lokho ekudingayo. Awuwedwa, baningi abantu abangasiza.

Ngokubekezela, uthando, kanye neseluleko esifanele sezokwelapha , ngisho nengane ene-arthrogryposis ingaba nekusasa elihle.

I- Arthrosis, ukuqina kwamalunga, isimo sokuzalwa, impilo yengane, izifo zofuzo, ukwelashwa ngokomzimba, ukuqina kwamalunga amaningi