Ingaba umntwana wakho omncinci ubonakala engenabomi? Masifunde ngale (Congenital Muscular Dystrophy - CMD)!

Ngaba umntwana wakho osandul’ ukuzalwa uziva etyhafile kakhulu, ngokungathi akaphili? Mhlawumbi ukukhala komntwana kuthambile kakhulu, kwaye amalungu akhe awashukumi kangako? Ukuba uqaphela into efana nale, kufuneka ukhathazeke kancinci. Kuba inokuba luphawu lwesifo esingaqhelekanga semisipha esibizwa ngokuba yi-`(Congenital Muscular Dystrophy)`, okanye `(CMD)` ngamafutshane, esibakho xa ezalwa.

Yintoni i-`(Congenital Muscular Dystrophy - CMD)`?

Ngamafutshane, iCongenital Muscular Dystrophy liqela lezifo ezibangela ubuthathaka bemisipha obuqala ekuzalweni okanye kwangoko emva kokuzalwa. Igama elithi 'congenital' lithetha 'ukubakho ukususela ekuzalweni'. Le yimeko engapheliyo efunyanwa njengelifa, oko kuthetha ukuba inokudluliselwa kwizizukulwana ngezizukulwana. Oku kubangela ukuba izihlunu zibe buthathaka kancinci kancinci, kwaye nezinye iimpawu zinokubonakala. Obu buthathaka bemisipha bunokwanda ngokuhamba kwexesha.

Ziziphi iintlobo eziphambili ze-`(CMD)`?

Ngoku masibone, kukho iintlobo ezahlukeneyo zale `(CMD)`. Oogqirha bahlula ezi ntlobo ngokwee-genes ezichaphazelekayo. Makhe sithethe ngezinye zeentlobo eziphambili:

• I-Laminin-alpha 2-related muscular dystrophies (LAMA2): Oku kunokuchaphazela phakathi kwe-10% kunye ne-37% yabantu abane-CMD. Abantwana abanale meko basenokungakwazi ukuhamba konke konke kwizigaba zokuqala. Basenokuba nobunzima bokuthetha ngenxa yobuthathaka bobuso kunye nolwimi olukhulu (macroglossia). Malunga nesinye kwisithathu sabantwana banokuba nokuxhuzula.
• I-Dystroglycanopathies (DGPs): Oku kwenzeka nakwiimeko eziyi-12% ukuya kwi-25%. Ukongeza kubuthathaka bemisipha, olu hlobo lunokuchaphazela nengqondo yomntwana wakho. Oku kunokubangela ukuxhuzula, ukukhubazeka kwengqondo, kunye neengxaki zamehlo. Ezinye iintlobo kweli qela ziquka i-Walker-Warburg syndrome, isifo semisipha-eye-brain, kunye ne-Fukuyama CMD (FCMD), exhaphake kakhulu eJapan.
• I-Collagen VI-related muscular dystrophies (COL6-RDs): Oku kwenzeka nakwi-12% ukuya kwi-19% yamatyala. Kukho iintlobo ezahlukeneyo eziqala kwezincinci ukuya kwezinzima, ezifana ne-Bethlem muscular dystrophy, i-intermediate COL6-RD, kunye ne-Ullrich congenital muscular dystrophy (UCMD).
• Iimyopathies ezinxulumene neSelenoprotein N (SEPN1-RM): Oku kwenzeka kwi-11% yamatyala. Kubonakaliswa bubuthathaka bemisipha obuqala kwangethuba obuchaphazela izihlunu zentloko kunye nomzimba (ezibizwa ngokuba yimisipha ye-axial). Oku kunokukhokelela ngokukhawuleza ekungakwazini ukuphefumla.

Ixhaphake kangakanani le meko `(CMD)`?

Esi sisifo esingaqhelekanga ngokwenene. Ngokutsho kwabaphandi, sichaphazela abantwana abaphakathi kwe-6 ne-9 kwisigidi kwihlabathi liphela.

Zithini iimpawu ze-`(CMD)`?

Kulungile, zithini ke ngoko iimpawu zomntwana one-`(CMD)`? Eyona iphambili kubuthathaka bemisipha. Ungazibona izinto ezinje xa uzalwa okanye emva kweentsuku ezimbalwa uzelwe:

• I-Hypotonia: Abanye abantu bakubiza oku ngokuba yimeko 'efana nonodoli'. Kusenokuvakala ngathi amalungu omzimba axhomekile.
• Kunqabile kakhulu ukushukumisa amalungu akho ngokungacwangciswanga.
• Isandi sokukhala sicotha kakhulu kwaye sibuthathaka.
• Kunzima ukusela ubisi ngenxa yobunzima bokuncanca.
• Ukuqina kwemisipha kunye namalungu, ukugoba.

Kungekudala emva kokuzalwa, uphuhliso losana lwezakhono zomzimba ezipheleleyo (izinto ezibandakanya izihlunu ezinkulu) nalo luphawu lwe-CMD. Umzekelo, ukulibaziseka ekukhuleni kwentamo, ukulibaziseka ekuqengqelekeni, kunye nokulibaziseka ekuhlaleni, ekuguqeni, ekumeni, nasekuhambeni. Umzekelo, ukuba umntwana wakho usasokola ukwenza ezo zinto ngelixa ezinye iintsana ezineminyaka efanayo zibaleka, zitsiba, kwaye zidlala, loo nto yinto ekufuneka uyiqwalasele.

Ubunzima bobu buthathaka bemisipha bungahluka kumntwana ngamnye. Ngokuxhomekeke kuhlobo lwe-`(CMD)`, umntwana wakho unokuba neempawu ezongezelelweyo ezifana nezi:

• Iingxaki zamehlo: Umzekelo, ukubona kufutshane (i-myopia), uxinzelelo lwamehlo oluphezulu (i-glaucoma).
• Ukuwa kwejwabu eliphezulu (i-ptosis).
• Iingxaki zobuchopho: ezifana ne-lissencephaly (ukuthambisa umphezulu wobuchopho) okanye ukungasebenzi kakuhle kwe-cerebellar (ukukhubazeka kwe-cerebellum).
• Ukuxhuzula.
• Ukukhubazeka kwengqondo.

Ziziphi iingxaki ezinokubakho ze-`(CMD)`?

Ziziphi iingxaki ezinokubakho ze-`(CMD)`? Oku kuyahluka ngokuxhomekeke kuhlobo lwe-`(CMD)`. Kodwa ngokubanzi, izinto ezinje zinokwenzeka:

• Iingxaki zokuhamba: Abanye abantwana basenokungakwazi ukuhamba konke konke kwaye banokufuna isitulo esinamavili. Abanye banokufuna izixhobo zokuncedisa ezifana nee-orthopedic braces okanye i-walker yokubanceda bahambe.
• Iingxaki zokuphefumla: Ingxaki eqhelekileyo ye-CMD kukusilela kokuphefumla okungapheliyo. Oku kubangelwa bubuthathaka bezihlunu ezinceda ekuphefumleni. Oku kunokufuna umoya ongeniswa ngomatshini (umatshini wokuphefumla). Oku kunokukhokelela kwiimeko ezifana ne-atelectasis kunye ne-pneumonia.
• Iingxaki zentliziyo: I-cardiomyopathy yingxaki eqhelekileyo ye-CMD. Oku kunokukhokelela ekusileleni kwentliziyo okungapheliyo.
• Iingxaki zemisipha:Ukungakwazi ukuhambahamba kunokukhokelela kwi-scoliosis, umqolo ogobileyo, kunye nomngcipheko ophezulu we-osteopenia kunye nokuqhekeka kwamathambo. Izilonda zoxinzelelo kunye nokuqiniswa kwamalungu (ukuqina kwemisipha kunye nemisipha ejikeleze ilungu) nazo zinokwenzeka.
• Iingxaki ze-neurological: Ukuphila nesifo esinganyangekiyo kunokubangela ukuba umntwana wakho abe namathuba amaninzi okufumana uxinzelelo kunye/okanye ixhala.

Kutheni le nto `(Congenital Muscular Dystrophy)` isenzeka?

Oku kubangelwa kukuguquka kwezakhi zofuzo. Ezi zakhi zofuzo zenzeka kwiizakhi zofuzo ezinoxanduva lokwakha nokugcina izihlunu ezisempilweni emizimbeni yethu. Ngenxa yezi zakhi zofuzo, iiseli ezimele ukugcina izihlunu zomntwana azikwazi ukwenza umsebenzi wazo ngokufanelekileyo. Ngenxa yoko, izihlunu ziya zisiba buthathaka kancinci kancinci ngokuhamba kwexesha.

Zininzi ii-genes ezinegalelo ekusebenzeni kwezihlunu, kwaye zininzi iinguqu ze-genetic ezinokwenzeka. Yiyo loo nto kukho iintlobo ezahlukeneyo ze-muscular dystrophy kunye ne-CMD.

Uninzi lweemeko ze-CMD zizuzwa njengelifa kwi-autosomal recessive pattern. Ngamafutshane, oku kuthetha ukuba umntwana ufumana i-genetic mutation ebangela isifo kubazali bobabini. Oku kuthetha ukuba bobabini abazali banokuba ngabathwali be-mutation, kodwa basenokungabonakalisi zimpawu. Nangona kunjalo, ukuba umntwana ufumana i-mutation kubazali bobabini, esi sifo siya kuvela.

Ezinye iimeko ze-CMD zenzeka ngokungacwangciswanga, oko kuthetha ukuba utshintsho lwezakhi zofuzo lwenzeka ngokungacwangciswanga kwaye aluzuzwa kumzali. Oku kubizwa ngokuba yi-de novo mutation.

Ifunyaniswa njani i-CMD?

Ukuba umntwana wakho uneempawu zeCongenital Muscular Dystrophy (uphawu oluphambili yi-hypotonia), ugqirha wakho uya kuqala enze uvavanyo lomzimba, uvavanyo lwemithambo-luvo, kunye novavanyo lwemisipha. Umntwana wakho angathunyelwa kwingcali yemithambo-luvo yabantwana ukuze afumane uvavanyo olunzulu.

Ukuba kukho isikrokro sokuba kukho imeko ebizwa ngokuba yi-"Congenital Muscular Dystrophy", ugqirha wakho unokucebisa iimvavanyo ezifana nezi:

• Uvavanyo lwegazi lwe-Creatine kinase: I-enzyme ebizwa ngokuba yi-creatine kinase ikhutshwa egazini xa izihlunu zonakele. Ngoko ke, ukuba inqanaba layo liphezulu egazini, inokuba luphawu lwesifo sobuthathaka bemisipha.
• I-Electromyography (EMG): Olu vavanyo lulinganisa umsebenzi wombane wemisipha kunye nemithambo-luvo yomntwana wakho.
• Uvavanyo lwemfuza: Kukho uvavanyo lwemfuza olunokuchonga utshintsho lwemfuza oluhambelana ne-muscular dystrophy. Iiphaneli zemfuza ezipheleleyo zinokuqinisekisa uhlobo oluthile lwe-CMD malunga nama-60% amatyala.
• I-biopsy yemisipha:Ugqirha usenokuthatha isampuli encinci yemisipha yomntwana wakho. Ingcali iya kuyijonga phantsi kwe-microscope ukujonga iimpawu ze-muscular dystrophy.
• I-Echocardiogram kunye ne-Electrocardiogram (EKG): Olu vavanyo lujonga ukuba imeko (CMD) ayichaphazelekanga na izihlunu zentliziyo yomntwana wakho.
• I-Brain MRI scan: Ukuba kunokwenzeka, ugqirha wakho unokucebisa i-brain MRI. Iintlobo ezininzi ze-CMD zinxulunyaniswa nokuphazamiseka okuthile kwiindawo ezahlukeneyo zobuchopho.

Ezi mvavanyo zingabonakala zininzi kuwe. Ukubukela umntwana wakho evavanywa kunokuba ngamava abuhlungu kakhulu. Kodwa into ekufuneka uyazi kukuba oogqirha bafuna ukunika umntwana wakho uxilongo olufanelekileyo kunye nonyango olungcono kakhulu. Iimpawu ze-CMD zinokufana nezezinye izifo, ezifana nezinye izifo ze-myopathies (iingxaki zemisipha), kunye nezinye iimeko ze-metabolic, ezifana nezifo zokugcina i-glycogen kunye nezifo ze-mitochondrial. Ke ngoko, kubaluleke kakhulu ukufumana uxilongo oluchanekileyo.

Ziziphi iindlela zonyango ze-`(CMD)`?

Okwangoku akukho nyango lwale meko (Congenital Muscular Dystrophy). Nangona kunjalo, abaphandi bayaqhubeka bezama ukufumana unyango.

Injongo ephambili yonyango kukulawula iimpawu kunye nokuphucula umgangatho wobomi bomntwana wakho. Iindlela zonyango zinokwahluka ngokuxhomekeke kuhlobo lwe-CMD. Ezi zinokubandakanya:

• Unyango lomzimba kunye nonyango lomsebenzi: Injongo ephambili yale mithi kukuqinisa nokolula izihlunu zomntwana wakho, nto leyo enceda ukugcina ukuhambahamba.
• IiCorticosteroids: IiCorticosteroids, ezifana ne-prednisolone kunye ne-deflazacort, zinokunceda ukulibazisa ubuthathaka bemisipha, ukuphucula ukusebenza kwemiphunga, ukunciphisa isantya se-scoliosis, ukunciphisa ukuqhubela phambili kwe-cardiomyopathy, kunye nokwandisa ubomi.
• Izixhobo zokuncedisa ukuhamba: Izixhobo ezifana neenduku, iibraces, ii-walker, kunye nezitulo ezinamavili zinokunceda umntwana wakho ukuba ahambehamba kwaye zimncede ekukhuselekeni ekuweni.
• Utyando: Umntwana wakho usenokufuna utyando ukuze kuncitshiswe uxinzelelo kwimisipha eqinileyo kwaye kulungiswe ukugoba komqolo (i-scoliosis).
• Ukhathalelo lwentliziyo: Unyango lwangethuba ngamayeza anjenge-ACE inhibitors kunye/okanye ii-beta-blockers lunokunciphisa ukuqhubela phambili kwe-cardiomyopathy kwaye luthintele ukungaphumeleli kwentliziyo. Izixhobo ezibizwa ngokuba yi-pacemakers zinokunceda ekunyangeni iingxaki zesingqisho sentliziyo kunye nokungaphumeleli kwentliziyo.
• Unyango lokuthetha: Oku kunokunceda abantwana abanengxaki yokuthetha kunye/okanye yokuginya.
• Ukhathalelo lokuphefumla: Izixhobo zokuncedisa ukukhwehlela kunye nezixhobo zokuphefumla zinokunceda ekuphefumleni. Kwimeko yokungasebenzi kakuhle kokuphefumla, i-tracheostomy (ukufakwa kwetyhubhu ngomngxuma entanyeni ukunceda ekuphefumleni) kunye noncedo lokungenisa umoya kunokufuneka.

Umntwana wakho unokukwazi ukuthatha inxaxheba kuvavanyo lweklinikhi lwe-CMD. Thetha neqela lezonyango lomntwana wakho ukuze ubone ukuba olu khetho lukulungele na.

Iqela lezonyango elinyanga `(CMD)`

Kunokubakho iqela leengcali kunye nabasebenzi bezempilo abasebenza ukulawula imeko yomntwana wakho (CMD). Aba bangabandakanya iingcali ezifana nezi:

• Iingcali zezingane
• Iingcali ze-neurological zabantwana
• Iingcali ze-physiatrists zabantwana (iingcali ze-Physical Medicine kunye ne-Rehabilitation)
• Iingcali zemfuza
• Iingcali zamathambo zabantwana
• Iingcali zonyango lwe-physical therapists zabantwana
• Iingcali zonyango lwempilo yabantwana
• Iingcali zezifo zolwimi lwentetho lwabantwana
• Iingcali zentliziyo zabantwana
• Iingcali zemiphunga zabantwana
• Iingcali zengqondo zabantwana
• Abasebenzi bezentlalo

Liza kuba njani ikamva lomntwana one-`(CMD)`?

Kunzima kubaphandi noogqirha ukuqikelela ikamva (oko sikubiza ngokuba yi-prognosis) lomntwana one-Congenital Muscular Dystrophy. Iqela lezonyango lomntwana wakho liza kukunika ulwazi oluninzi kangangoko malunga noko unokukulindela ngelixa umntwana wakho ephethwe nguye.

Ngokubanzi, i-congenital muscular dystrophy idla ngokuba qatha ngakumbi kwaye ikhula ngokukhawuleza kune-muscular dystrophy eqala ebuntwaneni okanye ebusheni.

Ubomi obulindelekileyo kubantwana abane-congenital muscular dystrophy buxhomekeke ekubeni imeko iba mandundu ngokukhawuleza kangakanani kwaye zeziphi izihlunu ezichaphazeleka. Izizathu eziphambili zokufa ngenxa yezi meko ziingxaki zokuphefumla okanye zentliziyo ezibangelwa bubuthathaka bemisipha.

Ngaba `(CMD)` inokuphetshwa?

Ekubeni iCongenital Muscular Dystrophy sisifo esibangelwa yimfuza, akukho nto unokuyenza ukuyithintela njengoko injalo ngoku.

Ngaphambi kokuba uzame ukuba nomntwana, ukuba ukhathazekile ngokudlulisela isifo semisipha okanye ezinye izifo zemfuza,Thetha nogqirha wakho malunga neengcebiso zofuzo. Kwezinye iimeko, uvavanyo lwangaphambi kokukhulelwa kwangethuba lunokunceda ekufumaneni imeko.

Ndingamnceda njani umntwana wam nge-`(CMD)`?

Ukuba umntwana wakho uneCongenital Muscular Dystrophy, kubalulekile ukuba umkhuthaze ukuba aqinisekise ukuba ufumana unyango olungcono kunye neenkonzo zonyango ezininzi kangangoko kunokwenzeka. Ngokukhuthaza olo nyango, ungamnceda ukuba abe nobomi obungcono kangangoko.

Wena nosapho lwakho ninokucinga ngokujoyina iqela lenkxaso apho ninokudibana khona nabantu abaye badlula kumava afanayo. Iindawo ezinje ngezi zinokuninika amandla engqondo, ulwazi olutsha, kunye nezinto ezininzi onokuzifunda kumava abanye abantu.

Umntwana wam one-`(CMD)` ufanele aye nini kugqirha?

Ukuba umntwana wakho une-CMD, kufuneka adibane neqela lakhe lezonyango rhoqo ukuze afumane unyango kwaye ajonge iimpawu zakhe. Ungaphoswa kutyelelo olulandelayo njengoko ugqirha wakho ecebisa.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Xa umntwana wakho efunyaniswe ene-CMD, kunokuba luncedo ukubuza le mibuzo:

• Luhlobo luni lwe-`(CMD)` olunalo umntwana wam?
• Ucebisa luphi unyango?
• Luluphi uluhlu olupheleleyo lweengcali umntwana wam afanele azibone?
• Ngaba unxibelelana nezinye iingcali?
• Yintoni endinokuyenza ekhaya ukuphucula umgangatho wobomi bomntwana wam? (umz. ukuzilolonga, ukutya okunesondlo)
• Ngaba kukho uphando olutsha malunga `(CMD)`?
• Ngaba kukho naziphi na iimvavanyo ezintsha zeklinikhi ze-CMD umntwana wam anokufaneleka kuzo?
• Ungacebisa iqela lenkxaso?

Ezona zinto zibalulekileyo esifuna ukuzithatha kweli bali zezi

Kuqhelekile ukuziva uxinezelekile kwaye uxhalabile xa umntwana wakho efunyaniswa ukuba uneCongenital Muscular Dystrophy (CMD). Kodwa khumbula, iqela lezonyango lomntwana wakho liya kubonelela ngesicwangciso solawulo esiqinileyo nesilungiselelwe wena. Kubalulekile ukuqinisekisa ukuba wena, umntwana wakho, kunye nosapho lwakho nifumana inkxaso abayidingayo, kwaye nihlale nigxile kwimpilo yomntwana wakho. Iqela lezonyango lomntwana wakho lilapha ukukunceda, wena, umntwana wakho, kunye nosapho lwakho kuyo yonke inyathelo lendlela. Ungakhathazeki, awuwedwa.

I- Congenital Muscular Dystrophy, i-CMD, ubuthathaka bemisipha, isifo semfuza, izifo zobuntwana, i-hypotonia, ukuphelelwa ngamandla kwemisipha, impilo yomntwana