Ingaba umntwana wakho unengxaki yokuqhwalela? Masifunde nge-Arthrogryposis Multiplex Congenita.

Akukho mazwi okuchaza uvuyo esiluvayo xa sijonga usana olusandul’ ukuzalwa, akunjalo? Kodwa ngamanye amaxesha, iintsana zethu zinokuba neengxaki zempilo ezincinci. Namhlanje siza kuthetha ngemeko engaqhelekanga ukuviwa ngayo, kodwa kubaluleke kakhulu ukuba siyiqaphele. Leyo yimeko ebizwa ngokuba yi-arthrogryposis.

Yintoni iArthrogryposis?

Ngamafutshane, i-Arthrogryposis Multiplex Congenita (AMC) yimeko apho umntwana ezalwa enamalungu angaphezu kwelinye angakwaziyo ukugoba okanye ukululama . Igama elithi 'Artho' lithetha amalungu, kwaye elithi 'gryposis' lithetha ukugoba okanye ukugoba. Esi asisosifo sinye, kodwa liqela leemeko ezingaphezu kwama-300 . Umzekelo, inokubonwa kwizifo zemisipha ezifana neMuscular Dystrophy kunye neemeko zemfuza ezifana neTrisomy 18 - Edwards Syndrome.

Ngoku, xa sithi 'ukuqina kwamalungu', oogqirha bakubiza oku ngokuthi '(contracture)'. Oko kukuthi, izihlunu zomntwana, ulusu, kunye nemisipha '(tendons)' ziqiniswe ngokusisigxina , ngoko ke amalungu afinyezwa, kwaye awakwazi ukugoba okanye ukunwebeka ngokufanelekileyo. Cinga ngayo, amalungu ziindawo ezifana nezandla zethu, izinqe, amadolo, kunye neentamo. La malungu ngawona asinceda sishukume. Ngoko ke, kwiintsana ezine-arthrogryposis, la malungu anobunzima bokushukuma ngokufanelekileyo. Asenokuba lukhuni ngokupheleleyo, okanye anokuba agobile, okanye anokuba athe tye aze anamathele kwindawo enye .

Ziziphi iimpawu ezikhethekileyo ezibonakaliswa ngumntwana kule meko?

Iintsana ezine-arthrogryposis zineempawu ezahlukeneyo ekuzalweni. Nangona kunjalo, ezi mpawu zinokwahluka ukusuka kumntwana omnye ukuya komnye, nokuba kusapho olunye. Ezona mpawu zixhaphakileyo zezi:

• Amagxa ayathotywa kwaye umzimba ujikelwe ngaphakathi.
• Leyo inengqiniba eyoluliweyo (kunzima ukuyigoba).
• Lowo unezandla neminwe egobile ngaphakathi kwaye inamathele.
• Amathambo esinqe asenokuba aphumile.
• Lowo uneedolo ezithe nkqo.
• Iinyawo zijike zaya ezantsi nangaphakathi (njenge `(Clubfoot)`).
• Umqolo unokuba ugobile kwicala elinye (ukugoba komqolo).

Ezi mpawu azifani kuye wonke umntu. Abanye abantu banokuba nenye okanye ezimbini kwezi, ngelixa abanye banokuba nazo ezininzi. Kwakhona, inokuchaphazela amalungu amakhulu kunye namalungu amancinci . Oku kuthetha ukuba inokuchaphazela yonke into ukusuka kwiminwe ukuya emagxeni.

Ngaba kukho iintlobo eziphambili ze-arthrogryposis?

Ewe, sithetha kakhulu ngeentlobo ezimbini:

• (I-Amyoplasia) : Kule meko , amalungu omzimba achaphazeleka kakhulu .
• (Distal Arthrogryposis) : Kolu hlobo , ukuqina kwenzeka ezandleni nasezinyaweni (distal joints) , kwaye amalungu amakhulu afana namagxa kunye nezinqe awachaphazeleki kakhulu.

Ixhaphake kangakanani le meko?

I-Arthrogryposis ayisiyongxaki ixhaphakileyo . Ngokwesiqhelo i-arthrogryposis ayisiyongxaki ixhaphakileyo.Le meko inokwenzeka ukuba yenzeke kumntu omnye kwabayi-3,000 abazalwa bephila.

Ingaba le yinto yemfuza? Ngaba yinto evela kwizizukulwana ngezizukulwana?

I-Arthrogryposis yimeko yokuzalwa . Oku kuthetha ukuba iimpawu ziqala ngaphambi kokuzalwa . Kwiimeko ezininzi , unobangela ochanekileyo awaziwa . Nangona kunjalo, kusenokwenzeka ukuba ibangelwa sisifo semfuza . Iingcali zichonge ii-genes ezingaphezu kwama-400 eziguquliweyo ezinxulumene ne-arthrogryposis. Zikwafumene unxibelelwano nezifo zemfuza ezingaphezu kwama-35 .

Yintoni umahluko phakathi kwe-arthrogryposis kunye ne-isolated contracture congenital?

Umbuzo olungileyo. `(Isolated Congenital Contracture)` kuthetha ukuba kukho ukuqina kwamalungu kwinxalenye enye yomzimba kuphela . Umzekelo, ngaba wakha wababona abantwana abazalwa benonyawo olunye kuphela olugobile ngaphakathi? Oko kubizwa ngokuba yi`(Clubfoot)`. Oko kukuthi `(isolated congenital contracture)`. Kodwa kwi-arthrogryposis, kunokubakho ukuqina kwamalungu kwiindawo ezimbini okanye ngaphezulu zomzimba .

Yintoni ebangela i-arthrogryposis (AMC)?

Kwiimeko ezininzi, imbangela echanekileyo ye-arthrogryposis ayicaci . Nangona kunjalo, kukho izinto ezininzi eziqhelekileyo ekucingelwa ukuba zinegalelo kule meko:

• Umntwana ongekazalwa (usana) unqongophele kubuchule bakhe bokushukuma njengoko ekhula esibelekweni . Oku kunokubangelwa kukungabi namanzi aneleyo e-amniotic, ukuba nomnye umntwana ongekazalwa (njengamawele), okanye ukuma okungaqhelekanga kwesibeleko. Xa umntwana ongekazalwa engakwazi ukuhambisa amalungu akhe ngokufanelekileyo, izicubu ezongezelelweyo ziyaqokelelana zijikeleze loo malungu, ziwacinezele .
• Ezinye iimeko zempilo umama okhulelweyo anazo . Umzekelo, isifo esifana `(Multiple Sclerosis)`. Ukuba umntu kusapho lwakho une `(Multiple Sclerosis)`, nawe unokuba sengozini enkulu.
• Izifo zemfuza . Umzekelo, iimeko ezifana ne-"Muscular Dystrophy".
• Izifo zeNkqubo yeNervous ephakathi . Oku kuquka ingqondo kunye nomgogodla. Imizekelo ibandakanya izifo ezifana ne-`(Moebius Syndrome)` kunye ne-`(Spina Bifida - Meningomyelocele)`.
• Izifo zeNkqubo yeMisipha . Umzekelo, iMyasthenia Gravis.
• Izifo zeZicwili eziDibeneyo . Imizekelo ibandakanya `(Dysplasia)` kunye `(Metatropic Dwarfism)`.

Kwezinye iimeko, kucingelwa ukuba indibaniselwano yezinto zemfuza kunye neemeko ezingqongileyo inokudlala indima ekubangeleni i-arthrogryposis.

Zithini kanye kanye iimpawu ze-arthrogryposis?

Iimpawu ze-arthrogryposis zinokwahluka kakhulu kumntu nomntu . Kwanakwintsapho enye, iimpawu zomntu omnye zinokwahluka okanye zibe nzima ngakumbi kunezo zomnye umntu.

Iimpawu eziqhelekileyo zezi:

• Ukungakwazi ukuhambisa amalungu amancinci namakhulu.
• Mhlawumbi amalungu amancinci namakhulu awakwazi ukushukunyiswa konke konke.
• Ukukhula kwemisipha okunciphileyo (imisipha engenaplastiki).
• Amasebe athambile kwaye amile okwetyhubhu.
• I-membrane efana nolusu (i-webbing yezicubu ezithambileyo) iyakheka phezu kwamalungu, ithintela intshukumo yamalungu.

Ezinye izinto eziphawulwa ngabantu abaninzi :

• Amathambo amade eengalo nemilenze abhityile ngendlela engaqhelekanga kwaye aqhekeka lula.
• I-Cryptorchidism kukusilela kwamasende (amasende) ukwehla aye emathunjini kumakhwenkwe.

Iimpawu ezibonwa ngabantu abambalwa kuphela :

• Izinqe eziphukileyo, iingqiniba, okanye amadolo.
• Iingxaki ngesakhiwo senkqubo yemithambo-luvo ephakathi (ingqondo yakho kunye nomqolo).
• Iingxaki ngokusebenza kwenkqubo ye-nervous central (oko kukuthi, indlela esebenza ngayo).

Abantu abane-amyoplasia badla ngokuba neengxaki ngezitho zangaphakathi okanye ukusebenza kwengqondo . Nangona kunjalo, malunga ne-10% banokuba neengxaki zesisu. Imizekelo:

• I-Gastroschisis: Oku kuthetha umngxuma esiswini.
• `(I-Intestinal Atresia)`: Oku kuthetha ukuvaleka kwamathumbu.

Amalungu emilenze achaphazeleka kakhulu. Amalungu ezandla alandelayo. Ukongeza, la malungu anokuchaphazeleka rhoqo:

• Amagxa
• Amadolo
• Ingqiniba
• Iqatha
• Iminwe
• Isandla
• Iinzwane
• Izinqe
• Ilungu lomhlathi

Ihlala ixesha elingakanani i-arthrogryposis (AMC)?

I-Arthrogryposis yimeko engenakunyangeka ngokupheleleyo . Nangona kunjalo, kukho unyango olunokuphucula umgangatho wobomi bakho . Unyango lomzimba, ngakumbi, lunokukunceda kwimisebenzi yemihla ngemihla efana nokunxiba nokusela amanzi.

Uyazi njani ukuba une-arthrogryposis (AMC)?

Ngamanye amaxesha, le meko inokubonwa ngaphambi kokuba umntwana azalwe . Ukuba i-ultrasound scan eqhelekileyo ngexesha lokukhulelwa ibonisa iingxaki kwimilenze yomntwana, kunokucingelwa ukuba isenokuba yi-arthrogryposis. Oogqirha badla ngokuqaphela ezi ngxaki zamalungu kwikota yesibini yokukhulelwa . Ngelo xesha, ugqirha unokukuthumela kwingcebiso yemfuza .

Umcebisi wakho wezemfuza uza kukunika ulwazi malunga neemeko zemfuza ezinokuchaphazela umntwana wakho. Baza kubuza ngembali yempilo yosapho lwakho baze bakucebise ngazo naziphi na iimvavanyo zemfuza ezifunekayo. Umzekelo:

• `(Isampuli yeChorionic Villus - CVS)`
• `(I-Amniocentesis)`

Kwanasemva kokuba umntwana ezelwe, oogqirha banokuyixilonga le meko ngokujonga iimpawu zakhe nokwenza iimvavanyo ezahlukeneyo . Ezi vavanyo ziquka:

• Izifundo zoQhubo lweMithambo: Zilinganisa indlela iimpembelelo zombane ezihamba ngokukhawuleza ngayo kwimithambo-luvo.
• I-Electromyography (EMG): Irekhoda umsebenzi wombane wezihlunu.
• `(I-Muscle Biopsy)`: Kuthathwa iqhekeza elincinci lesihlunu lize lihlolwe.
• Ukulandelelana kweeGenome: Ukuchonga iigene eziguqukileyo.
• Uvavanyo lwegazi: Khangela iingxaki kwiijini nakwiichromosomes.
• `(Comparative Genomic Hybridization (CGH) array)`: Ibona utshintsho kwii-chromosomes.
• I-Microarray: Ihlalutya amawaka eejini ngaxeshanye.
• Izifundo ze-Exome: Chonga utshintsho olwahlukeneyo kwiijini.

Ngamanye amaxesha oogqirha baxhomekeke kwiimvavanyo zemifanekiso ezifana ne-ultrasound kunye ne-EMG.

Nje ukuba ugqirha wakho afumanise unobangela onokubangela i-arthrogryposis yakho , uza kuyila isicwangciso sonyango . Unganceda ekwenzeni eso sicwangciso.

Iphathwa njani i-arthrogryposis (AMC)?

Nangona kungekho ndlela ithile yonyango lwe-arthrogryposis, unyango lunokuphucula kakhulu umgangatho wobomi bomntwana .

Khumbula, le ayisiyongxaki ethintela umntwana ukuba aphile ubomi obulungileyo. Ngonyango olufanelekileyo, izinto ezininzi zinokufezekiswa ngempumelelo.

Ngenxa yokuba izizathu ze-arthrogryposis zahlukile kumntu wonke, unyango luyahluka kumntu nomntu .

Iindlela zonyango ezisetyenziswa kakhulu kwi-arthrogryposis zezi:

• Iintsimbi zokubopha zisetyenziselwa ukuhambisa amalungu aqinileyo . Ezi zitshintshwa kancinci kancinci ukuze amalungu aguquguquke ngakumbi.
• Unyango lomzimba : Oku kuphucula ukuhamba kwamalungu kwaye kuthintela ukuwohloka kwemisipha.
• Ukuphathwa Kwamalungu : Oku kubandakanya ingcali eshukumisa amalungu ngobunono.
• Ukuzilolonga Kokunweba : Oku kwandisa ukuguquguquka kunye nobubanzi bokuhamba kwamalungu.
• Utyando . Utyando lunokwenziwa ukuze kwandiswe uluhlu lokushukuma kwamalungu afana neqakala, isinqe, idolo, isihlathi, okanye ingqiniba. Injongo ephambili apha kukuphucula ukusebenza komntwana . Oku kuquka ukukhulula amathambo kwizicubu ezithintela intshukumo, ukuvumela izihlunu ukuba zinciphe kwaye zishukume. Nangona kunjalo, utyando lwenziwa kwiimeko ezimbalwa .

Iingcali zicebisa indlela yokusebenzisa iindlela ezahlukeneyo . Oku kuthetha ukuba umntwana wakho usenokufuna unyango olungaphezulu kolunye. Iziphumo ezilungileyo zifumaneka xa iqela loogqirha kunye neengcali zonyango besebenzisana.

Ngaba kufuneka ndidibane neengcali?

Ewe, ngokuqinisekileyo. Kukho iingcali ezininzi ezinokunceda umntwana wakho nge-arthrogryposis. Umzekelo:

• Ugqirha wabantwana
• Ingcali yamathambo (ingcali yamathambo namalungu)
• Ugqirha ogxile kwizifo zemithambo-luvo (i-Neurologist)
• Ingcali yezemfuza kwezonyango
• Ugqirha woBulungisa
• Ingcali yoNyango lomzimba

Bonke aba bantu basebenzisana ukwenza isicwangciso sonyango esingcono kakhulu somntwana wakho.

Ngaba kukho naluphi na unyango olunokwenziwa ekhaya?

Abantu abaninzi abane-arthrogryposis baya kufuna unyango lomzimba ebutsheni babo . Iingcali zonyango lomzimba ziya kukufundisa imithambo onokuyenza ekhaya . Kubaluleke kakhulu ukuyenza ngokuchanekileyo le mithambo.

Ngaba i-arthrogryposis (AMC) ingathintelwa?

Oku kungaphaya kwamandla akho . Akukho nto ubunokuyenza ukunciphisa umngcipheko womntwana wakho wokuba ne-arthrogryposis. Ngoko ke nceda ungazibeki tyala .

Liyintoni ikamva lomntu one-arthrogryposis (AMC)?

Imbono yexesha elide kubantu abane-AMC ixhomekeke kwizinto ezininzi:

• Ubunzima be-arthrogryposis.
• Unobangela oyintloko we-arthrogryposis.
• Indlela umzimba wakho okanye womntwana wakho osabela ngayo kunyango .

Kodwa iindaba ezimnandi zezokuba uninzi lwabantu abane-arthrogryposis baphila njengabantu abadala abazimeleyo . Unyango lunokuphucula ukuhamba kwabo kangangokuba banokuphila ubomi obuqhelekileyo, njengabantu abangenayo i-arthrogryposis.

Ngaba i-arthrogryposis iba mandundu ngokuhamba kwexesha?

I-Arthrogryposis ayisiyongxaki eqhubekayo . Oku kuthetha ukuba ukuqina kwamalungu akubi mandundu ngokuhamba kwexesha. Nangona kunjalo, imeko ebangela oku ngamanye amaxesha inokuba yingozi . Ke ngoko, xa oogqirha beqinisekisa ukuba umntwana wakho une-arthrogryposis, kulungile ukuba wazi izizathu ezinokubakho.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha malunga ne-arthrogryposis?

Ukubuza imibuzo kugqirha wakho kunokukunceda uqonde ngcono i-arthrogryposis. Cinga ngokubuza ugqirha wakho le mibuzo malunga nokuxilongwa komntwana wakho:

• Luhlobo luni lwe-arthrogryposis umntwana wam analo?
• Kuza kufuneka umntwana wam anxibe isamente ixesha elingakanani?
• Yeyiphi indlela engcono yonyango kumntwana wam?
• Zeziphi iingcali umntwana wam afanele azibone?
• Siqala nini unyango lomzimba?
• Ngaba kukho amayeza umntwana wam afanele ukuwasela?
• Ndingamnceda njani umntwana wam ngcono?

Abantu abane-arthrogryposis bazalwa benamalungu aqinileyo okanye angashukumiyo. Banokuba nobunzima kwimisebenzi yemihla ngemihla, njengokuhamba okanye ukubamba indebe. Abantu abaninzi badinga unyango lomzimba kwaye ngamanye amaxesha utyando ukuphucula umgangatho wobomi babo.

Into yokugqibela umzali afuna ukuyiva kukuba kukho into engalunganga ngosana lwakhe olungekazalwa okanye olusandul’ ukuzalwa. Nceda ungazibeki tyala . Akukho nto ubunokuyenza ngendlela eyahlukileyo. Ukuba ufuna uncedo lokujongana nale meko inzima, thetha nogqirha wakho malunga neengcebiso kunye namaqela enkxaso. Awuwedwa . Kukho ezinye iintsapho ezidlula kwiimeko ezifanayo.

Okokugqibela, khumbula oku (Umyalezo Wokuya Ekhaya)

I-Arthrogryposis yimeko apho umntwana ezalwa enelungu elinye okanye ngaphezulu eliqandisiweyo kwaye lingakwazi ukuhamba kakuhle. Isenokuvakala isoyikisa, kodwa khumbula ukuba ngonyango olufanelekileyo kunye nenkathalo yothando, aba bantwana banokuphila ubomi obuhle kakhulu .

Nangona unobangela othile ungasoloko ufunyanwa, i-genetics kunye neemeko ezithile ngexesha lokukhulelwa zinokudlala indima . Kubaluleke kakhulu ukuyichonga kwangethuba kwaye uqale unyango olufana nonyango lomzimba, ukufakelwa i-casting ukuba kuyimfuneko, kunye notyando olungaqhelekanga.

Khumbulani, le asinto inokuthintelwa, ngoko ke njengabazali, musani ukudimazeka . Sebenzisanani neqela lenu lezonyango ninike umntwana wenu oko akufunayo. Awuwedwa, baninzi abantu abanokunceda.

Ngomonde, uthando, kunye neengcebiso ezifanelekileyo zonyango , nomntwana one-arthrogryposis unokuba nekamva elihle.

I- Arthrosis, ukuqina kwamalungu, imeko yokuzalwa, impilo yomntwana, izifo zemfuza, unyango lomzimba, ukuqina kwamalungu amaninzi