Ingaba umntwana wakho unobuthathaka bemisipha yokuzalwa? Masifunde ngeCongenital Myopathy.

Ngaba wakha waziva ngathi umntwana wakho ubuthathaka kancinci, ngathi akaphili? Okanye ngaba oogqirha bathethe okuthile ngemisipha yakhe emva nje kokuba ezelwe? Kuqhelekile ukuziva usoyika kancinci xa usiva izinto ezinje. Namhlanje siza kuthetha ngemeko yemfuza enokubangela ezi mpawu, kodwa ayiqhelekanga kangako.

Yintoni iCongenital Myopathy?

Ngamafutshane, iCongenital Myopathy yimeko engaqhelekanga kakhulu yemfuza. Oku kubangela ukuba izihlunu zethu zibe buthathaka. Igama elithi 'Congenital' lithetha 'ukubakho ukususela ekuzalweni'. Igama elithi 'Myopathy' lithetha 'isifo sezihlunu'. Ngoko ke, xa abantwana abanale meko bezalwa, izihlunu zabo ziba nemisipha ephantsi . Baziva ngathi imizimba yabo iyaqhwalela. Sikwabiza oku ngokuthi 'yiHypotonia' ngokwezonyango.

Ukongeza kobu buthathaka bemisipha, ezinye iimpawu zinokubonakala. Umzekelo:

• Iingxaki zamathambo (oko kukuthi, amathambo abuthathaka okanye amathambo angahambanga kakuhle)
• Ubunzima bokuphefumla
• Ubunzima bokuncancisa nokutya

Ezi mpawu ngamanye amaxesha zinokubonakala xa umntwana ezalwa. Okanye, zinokubonakala ngexesha lobuntwana okanye ebuntwaneni. Khawuthelekelele indlela umama okanye utata abenokoyika ngayo xa ebona usana olusandul’ ukuzalwa lulele lungashukumi kwaye lungenabomi.

Ziziphi iintlobo eziphambili ze-myopathy yokuzalwa?

Kukho malunga neentlobo ezintandathu eziphambili ze-myopathy yokuzalwa. Kukwakho nezinye iintlobo ezingaqhelekanga kakhulu eziye zachongwa. Uhlobo ngalunye lunokwahluka ngokweempawu, ubukhali besifo, iindlela zonyango, kunye noqikelelo lwesifo kwisigulane.

Ngoku makhe sijonge ezi ntlobo zintandathu ziphambili ngeenkcukacha ezithe vetshe.

Isifo Esiphambili Esiphambili

Olu lolona hlobo luqhelekileyo lwe-myopathy yokuzalwa. I-Central Core Disease luhlobo lwe-myopathy olubizwa ngokuba yi-Core Myopathy. Ngokwesiqhelo, iintsana zizalwa ziqhwalela, okanye zixinezelekile. Aba bantwana banokuba nokulibaziseka ekuphuhliseni imigangatho yophuhliso (njengokuhlala phezulu nokuqengqeleka). Banokuba nobuthathaka obuncinci kwiingalo zabo nasemilenzeni. Iindaba ezimnandi zezokuba obu buthathaka abubonakali buya busiba mandundu ngokuhamba kwexesha. I-Central Core Disease ibangelwa kukuguquka kwe-gene ye-RYR1.

Isifo seMinicore/Multicore

Olu lolunye uhlobo lwe-myopathy olukwicandelo elifanayo ne-'Core Myopathy' ekhankanyiweyo ngaphambili. Ikwanazo nezinye iintlobo ezahlukeneyo. Ikwabizwa ngokuba yi-"Minicore Disease" okanye "Multicore Disease". Kwiintlobo ezininzi zezi, ubuthathaka obukhulu bubonakala ezingalweni nasemilenzeni.Kwakhona, ukugoba komqolo, oko kukuthi, `(Scoliosis)`, kuyabonakala rhoqo. Ubunzima bokuphefumla buqhelekile, kwaye iintshukumo zamehlo zisenokuphazamiseka. Oku kunokubangelwa kukuguquka kwejini ye-`(RYR1)` ekhankanyiweyo ngaphambili okanye kwenye ijini.

I-Nemaline Myopathy

I-Nemaline Myopathy yenye i-myopathy eqhelekileyo yokuzalwa. Iintsana ezinale meko zihlala zinengxaki yokuphefumla nokondla. Zihlala zibuthathaka ebusweni, entanyeni, ezingalweni nasemilenzeni. Ukongeza, zinokuba neengxaki zamathambo ezifana ne-scoliosis. I-Nemaline Myopathy ibangelwa kukuguquka kwenye yezakhi zofuzo ezininzi, kuquka i-NEM2, i-ACTA1, kunye ne-TPM2.

I-Centronuclear Myopathy

Olu luhlobo olungaqhelekanga kakhulu lwe-myopathy yokuzalwa. Iimpawu ze-`(Centronuclear Myopathy)` ziquka ubuthathaka kwiingalo zomntwana wakho, imilenze, nobuso, iinkophe ezigobileyo, kunye neengxaki zokunyakaza kwamehlo. Ngelishwa, obu buthathaka budla ngokuba mandundu ngokuhamba kwexesha. Bubangelwa kukuguquka kwezakhi zofuzo `(DNM2)`, `(BIN1)`, okanye `(RYR1)`.

I-Myotubular Myopathy

I-Myotubular Myopathy yi -myopathy engaqhelekanga yokuzalwa edla ngokuchaphazela kuphela iintsana ezingamakhwenkwe. Kwimeko enjalo, umzimba uba buthathaka kakhulu. Ubunzima bokuphefumla nokuginya nako buqhelekile. Kwakhona, imeko ebizwa ngokuba yi-osteopenia iqhelekile. Okubuhlungu kukuba, abantwana abaninzi abaphili kunyaka wokuqala wobomi babo. Oku kubangelwa kukuguquka kwejini ebizwa ngokuba yi-MTM1.

I-Myopathy yokungafani kohlobo lwe-Fiber yokuzalwa

Le yimeko engaqhelekanga. `(Congenital Fiber-Type Disproportion Myopathy)` iqala ngokuqhwalela. Iimpawu ziquka ubuthathaka ebusweni, ezingalweni, nasemilenzeni, kunye nobunzima bokuphefumla. Nangona uninzi lweentsana luchaphazeleka kakhulu, umsebenzi wazo wokuphefumla unokuphucula kancinci xa zikhula. Utshintsho kwi-genes `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, kunye `(RYR1)` luye lwachongwa kubantwana abanale meko.

Ziziphi iimpawu eziqhelekileyo ze-myopathy yokuzalwa?

Njengoko besitshilo ngaphambili, iimpawu zezi myopathies zokuzalwa zingahluka ngokuxhomekeke kuhlobo lwazo. Kwakhona, zinokubonakala ekuzalweni okanye zivele ngexesha lobuntwana okanye ebuntwaneni. Nangona kunjalo, kukho ezinye iimpawu eziqhelekileyo ezihlala zibonakala. Zezi:

• I-Hypotonia: Izihlunu zomntwana wakho zibonakala zibuthathaka kwaye zingenabomi. Oku kunokwanda ngokuhamba kwexesha, kwaye kwezinye iimeko, kunokuncipha.
• Ubuthathaka bemisipha: ingakumbi ebantwaneniIzihlunu ezisentanyeni, emagxeni, nasezinqeni (izihlunu ezikufutshane) zezona zidla ngokuba buthathaka.
• Ubunzima bokuphefumla: Njengoko izihlunu ezikuncedayo ukuphefumla zisiba buthathaka, unokufumana ubunzima bokuphefumla kunye nokuziva uxinezelekile esifubeni sakho.
• Ukulibaziseka kokukhula: Iziganeko zokukhula komntwana, ezifana nokuhlala, ukukhasa, ukuma, nokuhamba, azenzeki ngexesha elilindelekileyo. Umzekelo, lo mntwana unokuba nobunzima bokuphakamisa intloko yakhe xa abanye abantwana abaneminyaka efanayo besenza njalo.
• Iingxaki zokutya: Ubunzima bokufunxa ingono okanye ibhotile, ubunzima bokutya ngecephe, ukuhlafuna ukutya, okanye ukusela amanzi. Oku kunokubangela ukwehla kobunzima bomzimba.
• Ukuwa/Ukukhubeka: Njengoko ukhula, ungawa kwaye ukhubeke rhoqo xa uhamba ngenxa yobuthathaka bemisipha.

Zithini izizathu ze-myopathy yokuzalwa?

Enyanisweni, imbangela ephambili yale miyopathies yokuzalwa kukutshintsha kwezakhi zofuzo ezithile, ezibizwa ngokuba ziinguqu. Ezi zakhi zofuzo zifana neseti encinci yemiyalelo elawula yonke into emzimbeni wethu. Cinga ngayo njengeresiphi. Ukuba kukho impazamo kwenye inxalenye yaloo resiphi, isitya sonke singonakala, akunjalo? Kunjalo ke ngotshintsho kwizakhi zofuzo. Xa ezi zakhi zofuzo zitshintsha, zinokuchaphazela izihlunu zomntwana, imithambo-luvo evuselela izihlunu, kwaye ngamanye amaxesha ingqondo yomntwana. Yiyo loo nto loo buthathaka bemisipha buvela.

Ifunyanwa njani i-myopathy yokuzalwa?

Kwangoko nje umntwana wakho ezelwe, uya kuhlolwa ngugqirha okhethekileyo kwicandelo losana olusandul’ ukuzalwa (`Neonatologist`) okanye ngugqirha wabantwana (`Pediatrician`). Ukuba barhanela imeko ethile, banokuyalela uvavanyo oluthile ukuqinisekisa ukuxilongwa. Basenokuthumela umntwana wakho kwingcali ye-neurology (`Neurologist`) kwaye mhlawumbi ingcali ye-genetics (`Geneticist`).

Olu vavanyo lungabandakanya:

• Uvavanyo lwegazi: Oku kunokujonga amanqanaba aphezulu e-enzyme ebizwa ngokuba yi-``Creatine Kinase'', ekhutshwa egazini xa izihlunu zonakele.
• Uvavanyo lwe-Electromyogram (EMG): I-EMG inokulinganisa umsebenzi wombane wezihlunu zomntwana wakho. Oku kulinganisa indlela ezisebenza kakuhle ngayo izihlunu.
• I-Biopsy yeMisipha: Oku kuquka ukuthatha iqhekeza elincinci kakhulu lemisipha yomntwana wakho uze ulihlolisise nge-microscope. Oku kunokunceda ukubona ukuba loluphi utshintsho olukhoyo kwiiseli zemisipha. Oku kufana notyando oluncinci, kodwa akukho nto ibalulekileyo.
• Uvavanyo lweMfuzo:Olu luvavanyo oluhlala lunceda ekuxilongeni isifo ngokuqinisekileyo. Lunokubona naluphi na utshintsho, okanye utshintsho, kwiijini ezibangela i-myopathy.

Ziziphi iindlela zonyango lwe-myopathy yokuzalwa?

Inyani yile, akukho nyango lwezi meko ze-myopathy zokuzalwa. Oku kunokuvakala kulusizi, kodwa kuyinyani. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu kwaye luncede umntwana wakho aphile ubomi obuhle kangangoko kunokwenzeka.

Kwezinye iintlobo, ezifana ``neSifo esiPhakathi`` kunye ``neSifo esiNcinci``, kukho iimeko apho kusetyenziswa iyeza elibizwa ngokuba yi``Albuterol``. Nangona oku kusesekwinqanaba lophando, kufunyenwe ukuba kuyanceda ekunciphiseni ubuthathaka obufunyanwa ngumntwana ukuya kuthi ga kwinqanaba elithile. Kodwa khumbula, oku akuyonyango yesi sifo.

Unyango lwazo zonke ezinye iintlobo lujolise ekulawuleni iimpawu zomntwana. Olu nyango lufanele luquke:

• Unyango lwamathambo: Ukuba kuyimfuneko, unyango lweengxaki zamathambo. Umzekelo, utyando okanye ukusetyenziswa kwezixhobo ezixhasayo kunokufuneka kwizinto ezifana ne-scoliosis.
• Unyango Lomzimba: Oku kubaluleke kakhulu. Kufundisa imithambo kunye neendlela ezahlukeneyo zokuqinisa izihlunu, ukuphucula intshukumo, kunye nokuphucula ibhalansi yomntwana.
• Unyango Lomsebenzi: Oku kuquka ukunceda umntwana ukuba enze imisebenzi yemihla ngemihla eyedwa. Umzekelo, ukunceda ngezinto ezifana nokunxiba, ukutya, ukudlala, nokufunda nokubhala.
• Unyango lokuthetha: Ukunceda kwiingxaki zokuthetha kunye nobunzima bokuginya.

Eyona nto ibalulekileyo kukuba zonke ezi ndlela zonyango zenzelwe iimfuno zomntwana, phantsi kolwalathiso loogqirha abaziingcali kunye neengcali zonyango, kwaye zenziwe njengeqela.

Ukongeza, ezinye iindlela zonyango zovavanyo, ezifana nonyango lwezakhi zofuzo, ziyaphuhliswa kwaye sinethemba lokuba ezi ndlela ziya kuvelisa iziphumo ezilungileyo kwixesha elizayo.

Ngaba ikho indlela yokuthintela umntwana wam ukuba angabi ne-myopathy yokuzalwa?

Lo ngumbuzo onzima kakhulu. Ekubeni i-myopathy yokuzalwa ibangelwa kukuguquka kwezakhi zofuzo, akukho ndlela yokuthintela esi sifo ukuba singenzeki.

Nangona kunjalo, ukuba ukhathazekile okanye ukrokrela ukuba unokuba nomntwana onesifo semfuza, eyona nto ingcono onokuyenza kukuthetha nogqirha wakho malunga neengcebiso zemfuza, kwaye ukuba kuyimfuneko, uvavanyo lwemfuza.Kubaluleke kakhulu ukuthetha ngale nto ngaphambi kokuba ube nomntwana, ingakumbi ukuba umntu kusapho lwakho une-myopathy okanye esinye isifo semfuza. Umcebisi ngezemfuza angakuxelela okungakumbi ngale nto aze ahlole umngcipheko wakho.

Kuza kwenzeka ntoni ukuba umntwana wam une-Congenital Myopathy?

Kunzima ukunika impendulo enye kulo mbuzo, kuba i-prognosis inokwahluka kakhulu ngokuxhomekeke kuhlobo lwe-myopathy yokuzalwa umntwana anayo kunye nobunzima besifo.

I-Congenital myopathy ingabangela iingxaki zamathambo ezihlala ixesha elide, ezifana nezi:

• Ukuncipha kokunyakaza kwamalungu.
• Iingxaki zesinqe.

Kwakhona, ixesha lokuphila liyahluka ukusuka kumntu ngamnye. Ukuba umntwana wakho unengxaki yokuphefumla enzima, unokufumana iingxaki zokuphefumla okanye iingxaki ezifana ne-pneumonia. Kwiimeko ezinzima, ezi zinokuba yingozi ebomini.

Nangona kunjalo, abanye abantwana abaneengxaki ezincinci banokukhula babe ngabantu abaqhelekileyo baze baphile ubomi obupheleleyo. Banokuya esikolweni, badlale, baze benze imisebenzi yabo yasekhaya.

Kungoko ke, kubalulekile ukuthetha ngokukhululekileyo nogqirha womntwana wakho malunga nemeko yakhe ethile. Baza kukwazi ukukunika ulwazi oluchanekileyo kwaye baphendule nayiphi na imibuzo onokuba nayo.

Yintoni umahluko phakathi kweCongenital Myopathy kunye neMuscular Dystrophy?

Usenokuba ukhe weva ngemeko ebizwa ngokuba yi-muscular dystrophy. Ikwasisifo semfuza esenza izihlunu zibe buthathaka. Nangona kunjalo, kukho umahluko obalulekileyo phakathi kwezi zimbini.

• Ixesha lokuqala kweempawu: Kwi-myopathy yokuzalwa, iimpawu zivela ekuzalweni okanye ebuntwaneni/ebuntwaneni. Nangona kunjalo, kwi-muscular dystrophy, abanye abantu baneempawu ekuzalweni, ngelixa abanye banokubonakalisa iimpawu ebuntwaneni, ebusheni, okanye kwanasebudaleni.
• Kwenzeka ntoni kwimisipha: Kwi-muscular dystrophy, imisipha iyawohloka kancinci kancinci ize ivuseleleke. Kwakhona, i-muscular dystrophy sisifo esiqhubekayo, nto leyo ethetha ukuba iimpawu ziya ziba mandundu ngokuhamba kwexesha. Kwi-congenital myopathies, ubuthathaka bemisipha buhlala buzinzile okanye bukhula kancinci (ngaphandle kwezinye iimeko).
• Iziphumo kwamanye amalungu omzimba: I-Muscular dystrophy inokuchaphazela intliziyo nemiphunga ngokuhamba kwexesha. Oku akuqhelekanga kangako kwi-congenital myopathies (ngaphandle kwezinye iintlobo).
• Uxilongo: Oogqirha bayakwazi ukwahlula phakathi kwezi zifo zimbini ngokusebenzisa iimvavanyo ezahlukeneyo zelebhu, ingakumbi i-biopsy yemisipha.

Ngamafutshane, kwi-myopathies yokuzalwa, ubuthathaka bemisipha buhlala bufana ngokuhamba kwexesha, okanye bunokuphucula kancinci (ngaphandle kwezinye iintlobo ezinzima). Nangona kunjalo, "iMuscular Dystrophy" yimeko edla ngokuba mandundu ngakumbi.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ndiyaqonda ukuba ngumthwalo omkhulu kwaye kuyothusa ukuva ukuba umntwana wakho unemeko engaqhelekanga, yokuzalwa, kwaye kunzima ukuyichaza ngamazwi. Kunzima kakhulu ukuyamkela.

Kodwa khumbula, awuwedwa. Kukho iqela elikhulu leengcali, kuquka oogqirha, iingcali zonyango lomzimba, iingcali zonyango lomsebenzi, kunye neengcali zonyango lokuthetha, abalapha ukunceda wena nomntwana wakho. Injongo yabo kukunceda umntwana wakho aphile ixesha elide kangangoko kunokwenzeka, kwaye bamncede ahlale ekhululekile kwaye ekhuthele kangangoko kunokwenzeka.

Kukho iinkonzo zenkxaso ezikhoyo kuwe nakusapho lwakho ukukunceda ujongane nemingeni yokuphila nokuxilongwa okunje. Ngamanye amaxesha, ezi nkonzo ziyafumaneka ukukunceda ujongane nokulahlekelwa ngumntwana. Kusenokubakho imibutho eSri Lanka enceda abantwana neentsapho ukuba bathande oku, ngoko ke bajonge.

Kakade ke, ukuba kukho umntu kusapho lwakho oye waba ne-myopathy kwaye ulindele umntwana, thetha nogqirha wakho malunga novavanyo lwemfuza ngaphambi kokuba ukhulelwe. Banokukunceda ubone umngcipheko wokuba nomntwana onesimo semfuza.

Nangona olu hambo lunzima, ngolwazi olufanelekileyo, iingcebiso zonyango ezifanelekileyo, kunye nenkxaso yabantu obathandayo, uya kufumana amandla okujongana nalo. Ungalahli ithemba. Ngamana ungafumana amandla okwenza konke okusemandleni akho ngenxa yomntwana wakho!

I- Congenital Myopathy, Ubuthathaka Bemisipha, Izifo Zabantwana, Izifo Zemfuza, I-Hypotonia, Uvavanyo Lwemfuza, Unyango Lomzimba