Ingabe ingane yakho inobuthakathaka bemisipha yokuzalwa nayo? Ake sifunde nge-Congenital Myopathy.

Wake wazizwa sengathi ingane yakho ibuthakathaka kancane, sengathi ayiphilile? Noma ingabe odokotela basho okuthile ngemisipha yayo ngemva nje kokuzalwa kwayo? Kuvamile ukuzizwa wesaba kancane uma uzwa izinto ezinjengalezi. Namuhla sizokhuluma ngesimo sofuzo esingabangela lezi zimpawu, kodwa akuvamile kakhulu.

Kuyini i-Congenital Myopathy?

Kalula nje, i-Congenital Myopathy yisimo esingavamile kakhulu sofuzo. Lokhu kubangela ukuba imisipha yethu ibe buthaka. Igama elithi 'Congenital' lisho ukuthi 'ukuba khona kusukela ekuzalweni'. 'Myopathy' lisho 'isifo semisipha'. Ngakho-ke, lapho izingane ezinalesi simo zizalwa, imisipha yazo iba nemisipha ephansi . Zizizwa sengathi imizimba yazo iyaxega. Siphinde sikubize ngokuthi 'i-Hypotonia' ngokwezokwelapha.

Ngaphezu kwalobu buthakathaka bemisipha, kungase kubonakale nezinye izimpawu. Isibonelo:

• Izinkinga zamathambo (okungukuthi, amathambo abuthakathaka noma amathambo angahlelekile kahle)
• Ubunzima bokuphefumula
• Ubunzima bokuncelisa nokudla

Lezi zimpawu ngezinye izikhathi zingabonakala ekuzalweni. Noma, zingabonakala ngesikhathi sobuntwana noma ebuntwaneni. Cabanga ukuthi umama noma ubaba ubengesaba kangakanani uma bebona umntwana osanda kuzalwa elele enganyakazi futhi engaphili.

Yiziphi izinhlobo eziyinhloko ze-myopathy yokuzalwa?

Kunezinhlobo eziyisithupha eziyinhloko ze-myopathy yokuzalwa. Kukhona nezinye izinhlobo ezingavamile kakhulu eziye zatholakala. Uhlobo ngalunye lungahluka ngokwezimpawu, ubukhali besifo, izinketho zokwelapha, kanye nokubikezela kwesiguli.

Manje ake sibheke lezi zinhlobo eziyisithupha eziyinhloko ngemininingwane ethe xaxa.

Isifo Esiyinhloko Esiphakathi

Lolu uhlobo oluvame kakhulu lwe-myopathy yokuzalwa. I-Central Core Disease uhlobo lwe-myopathy olubizwa nge-Core Myopathy. Ngokuvamile, izingane zizalwa zixhuga, noma zi-hypotonia. Lezi zingane zingase zibe nokubambezeleka ekukhuleni kwezigaba ezibalulekile (njengokuhlala phansi nokugingqika). Zingase futhi zibe nobuthakathaka obuphakathi ezingalweni nasemilenzeni yazo. Izindaba ezinhle ukuthi lobu buthakathaka abubonakali buya bukhula ngokuhamba kwesikhathi. I-Central Core Disease ibangelwa ukuguqulwa kwezakhi zofuzo okubizwa nge-RYR1.

Isifo Esincane/Esinezinsizi Eziningi

Lolu olunye uhlobo lwe-myopathy olusesigabeni esifanayo ne-'Core Myopathy' okukhulunywe ngayo ngaphambilini. Luphinde lube nezinhlobo eziningana. Lubizwa nangokuthi ``Minicore Disease'' noma ``Multicore Disease''. Eziningi zalezi zinhlobo, ubuthakathaka obukhulu bubonakala ezingalweni nasemilenzeni.Futhi, ukugoba komgogodla, okungukuthi, `(Scoliosis)`, kuvame ukubonakala. Ubunzima bokuphefumula nakho buvamile, futhi ukunyakaza kwamehlo kungase kuphazamiseke. Lokhu kungase kubangelwe nokuguquka kwezakhi zofuzo ze-`(RYR1)` okukhulunywe ngazo ngaphambilini noma esinye isakhi sofuzo.

I-Nemaline Myopathy

I-Nemaline Myopathy ingenye i-myopathy evamile yokuzalwa. Izingane ezinalesi simo zivame ukuba nezinkinga zokuphefumula nezokudla. Zivame ukuba nobuthakathaka ebusweni bazo, entanyeni, ezingalweni nasemilenzeni. Ngaphezu kwalokho, zingaba nezinkinga zamathambo njenge-scoliosis. I-Nemaline Myopathy ibangelwa ukuguquka kwesinye sezakhi zofuzo eziningana, okuhlanganisa i-NEM2, i-ACTA1, kanye ne-TPM2.

I-Centronuclear Myopathy

Lolu uhlobo olungavamile kakhulu lwe-myopathy yokuzalwa. Izimpawu ze-`(Centronuclear Myopathy)` zifaka phakathi ubuthakathaka ezingalweni, emilenzeni, nasebusweni bengane yakho, amajwabu amehlo alengayo, kanye nezinkinga zokunyakaza kwamehlo. Ngeshwa, lobu buthakathaka buvame ukuba bubi kakhulu ngokuhamba kwesikhathi. Bubangelwa ukuguquka kwezakhi zofuzo `(DNM2)`, `(BIN1)`, noma `(RYR1)`.

I-Myotubular Myopathy

I-Myotubular Myopathy iyi -myopathy engavamile yokuzalwa evame ukuthinta izingane zesilisa kuphela. Kulesi simo, umzimba uba buthaka kakhulu futhi ube buthakathaka. Ubunzima bokuphefumula nokugwinya nakho kuvamile. Futhi, isimo esibizwa ngokuthi i-osteopenia sivamile. Ngokudabukisayo, izingane eziningi azisindi onyakeni wokuqala wokuphila kwazo. Lokhu kubangelwa ukuguquka kwezakhi zofuzo ezibizwa ngokuthi i-MTM1.

I-Myopathy Yokungalingani Kohlobo Lwe-Fiber Yokuzalwa

Lesi futhi yisimo esingavamile. `(Congenital Fiber-Type Disproportion Myopathy)` siqala nangokuxhuga. Izimpawu zifaka phakathi ubuthakathaka ebusweni, ezingalweni, nasemilenzeni, kanye nobunzima bokuphefumula. Nakuba iningi lezinsana lithinteka kakhulu, umsebenzi wazo wokuphefumula ungathuthuka kancane ngokuguga. Ukuguqulwa kwezakhi zofuzo `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, kanye `(RYR1)` kuye kwatholakala ezinganeni ezinalesi simo.

Yiziphi izimpawu ezivamile ze-myopathy yokuzalwa?

Njengoba sesixoxile ngaphambili, izimpawu zalezi zifo ezibangelwa yi-myopathies zingahluka kuye ngohlobo lwazo. Futhi, zingabonakala ekuzalweni noma zivele ngesikhathi sobuntwana noma ebuntwaneni. Kodwa-ke, kunezinye izimpawu ezivamile ezivame ukubonakala. Lezi yizi:

• I-Hypotonia: Imisipha yengane yakho izizwa ibuthakathaka futhi ingenampilo. Lokhu kunganda ngokuhamba kwesikhathi, futhi kwezinye izimo, kungancipha.
• Ubuthakathaka bemisipha: ikakhulukazi ezinganeniImisipha entanyeni, emahlombe, nasezinqeni (imisipha eseduze) yiyo evame ukuba buthaka.
• Ubunzima bokuphefumula: Njengoba imisipha ekusiza ukuphefumula iba buthaka, ungase ube nobunzima bokuphefumula kanye nomuzwa wokuqina esifubeni sakho.
• Ukulibaziseka kokukhula: Izinyathelo zokukhula komntwana, njengokuhlala, ukukhasa, ukuma, nokuhamba, azenzeki ngesikhathi esilindelwe. Isibonelo, lo mntwana angase abe nobunzima bokuphakamisa ikhanda lakhe lapho ezinye izingane ezingontanga yakhe zenza kanjalo.
• Izinkinga zokudla: Ubunzima bokuncela ingono noma ibhodlela, ubunzima bokudla ngesipuni, ukuhlafuna ukudla, noma ukuphuza amanzi. Lokhu kungaholela nasekunciphiseni isisindo.
• Ukuwa/Ukukhubeka: Njengoba ukhula, ungase uwe futhi ukhubeke njalo ngenkathi uhamba ngenxa yobuthakathaka bemisipha.

Yiziphi izimbangela ze-myopathy yokuzalwa?

Eqinisweni, imbangela eyinhloko yalezi zinkinga zokuzalwa ezibangelwa yi-myopathies izinguquko ezakhiweni ezithile zofuzo, ezibizwa ngokuthi ukuguqulwa kwezakhi zofuzo. Lezi zakhi zofuzo zifana nesethi encane yemiyalelo elawula konke emzimbeni wethu. Cabanga ngakho njengeresiphi. Uma kukhona iphutha engxenyeni eyodwa yaleyo resiphi, isidlo sonke singawohloka, akunjalo? Yilokho okwenzekayo ngezinguquko ezakhiweni zofuzo. Lapho lezi zakhi zofuzo zishintsha, kungathinta imisipha yengane, imizwa evuselela imisipha, futhi ngezinye izikhathi ubuchopho bengane. Yingakho kwenzeka lobo buthakathaka bemisipha.

I-myopathy yokuzalwa itholakala kanjani?

Lapho nje ingane yakho izalwa, ngokuvamile izohlolwa udokotela ochwepheshe egunjini lokunakekelwa kwezingane ezisanda kuzalwa (`Neonatologist`) noma udokotela wezingane (`Pediatrician`). Uma besola isimo esithile, bangase bacele ukuhlolwa okuthile ukuqinisekisa ukuxilongwa. Bangase futhi badlulisele ingane yakho kuchwepheshe we-neurology (`Neurologist`) futhi mhlawumbe nochwepheshe we-genetics (`Geneticist`).

Lezi zivivinyo zingafaka:

• Ukuhlolwa kwegazi: Lokhu kungahlola amazinga aphezulu e-enzyme ebizwa ngokuthi i-``Creatine Kinase'', ekhishwa egazini uma imisipha yonakele.
• Ukuhlolwa kwe-Electromyogram (EMG): I-EMG ingalinganisa umsebenzi kagesi wemisipha yengane yakho. Lokhu kulinganisa ukuthi imisipha isebenza kahle kangakanani.
• Ukuhlolwa Kwemisipha: Lokhu kuhilela ukuthatha ingxenye encane kakhulu yemisipha yengane yakho bese uyihlola ngaphansi kwesibonakhulu. Lokhu kungasiza ekuboneni ukuthi yiziphi izinguquko ezikhona emaseli emisipha. Lokhu kufana nokuhlinzwa okuncane, kodwa akukho okufanele ukhathazeke ngakho.
• Ukuhlolwa Kwezakhi Zofuzo:Lolu vivinyo oluvame ukusiza ekuxilongeni lesi sifo ngokuqiniseka. Lungabona noma yiziphi izinguquko, noma izinguquko, ezakhiweni zofuzo ezibangela i-myopathy.

Yiziphi izindlela zokwelapha i-myopathy yokuzalwa?

Iqiniso liwukuthi, ayikho ikhambi lalezi zimo ze-myopathy zokuzalwa. Lokhu kungase kuzwakale kudabukisa, kodwa kuyiqiniso. Kodwa-ke, kunezindlela zokwelapha ezingasiza ukulawula izimpawu futhi zisize ingane yakho iphile impilo enhle ngangokunokwenzeka.

Kwezinye izinhlobo, njenge-"Central Core Disease" kanye ne-"Minicore Disease", kunezimo lapho kusetshenziswa khona umuthi obizwa ngokuthi "Albuterol". Nakuba lokhu kusesesigabeni socwaningo, kutholakale ukuthi kusiza ekunciphiseni ubuthakathaka obubhekana nengane ngezinga elithile. Kodwa khumbula, lokhu akulona ikhambi lalesi sifo.

Ukwelashwa kwazo zonke ezinye izinhlobo ngokuvamile kuhloselwe ukuphatha izimpawu zengane. Lokhu kwelashwa kufanele kufake:

• Ukwelashwa kwamathambo: Uma kudingeka, ukwelashwa kwezinkinga zamathambo. Isibonelo, ukuhlinzwa noma ukusetshenziswa kwamadivayisi asekelayo kungadingeka ezintweni ezifana ne-scoliosis.
• Ukwelashwa Komzimba: Lokhu kubaluleke kakhulu. Kufundisa ukuzivocavoca kanye namasu ahlukahlukene okuqinisa imisipha, ukuthuthukisa ukunyakaza, kanye nokuthuthukisa ibhalansi yengane.
• Ukwelashwa Komsebenzi: Lokhu kuhilela ukusiza ingane ukuthi yenze imisebenzi yansuku zonke ngokuzimela. Isibonelo, ukusiza ngezinto ezifana nokugqoka, ukudla, ukudlala, nokufunda nokubhala.
• Ukwelashwa Ngenkulumo: Ukusiza ngobunzima bokukhuluma kanye nobunzima bokugwinya.

Into ebaluleke kakhulu ukuthi zonke lezi zindlela zokwelapha zenzelwe izidingo zengane, ngaphansi kokuqondiswa kodokotela abangochwepheshe kanye nabelaphi, futhi zenziwa njengeqembu.

Ngaphezu kwalokho, ezinye izindlela zokwelapha ezisetshenziswayo, njengokwelashwa kwezakhi zofuzo, ziyathuthukiswa futhi sithemba ukuthi lokhu kuzoletha imiphumela emihle esikhathini esizayo.

Ingabe ikhona indlela yokuvimbela ingane yami ekutholeni i-myopathy yokuzalwa?

Lona umbuzo onzima ngempela. Njengoba i-myopathy yokuzalwa ibangelwa ukuguquka kwezakhi zofuzo, ayikho indlela yokuvimbela lesi sifo ukuthi singenzeki.

Kodwa-ke, uma ukhathazekile noma usola ukuthi ungase ube nengane enesifo sofuzo, into engcono kakhulu ongayenza ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo, futhi uma kudingeka, ukuhlolwa kofuzo.Kubaluleke kakhulu ukukhuluma ngalokhu ngaphambi kokuba ube nomntwana, ikakhulukazi uma othile emndenini wakho enesifo se-myopathy noma esinye isimo sezakhi zofuzo. Umeluleki wezakhi zofuzo angakutshela okwengeziwe ngalokhu futhi ahlole ingozi yakho.

Kuzokwenzekani uma ingane yami ine-Congenital Myopathy?

Kunzima ukunikeza impendulo eyodwa kulo mbuzo, ngoba isibikezelo singahluka kakhulu kuye ngohlobo lwe-myopathy yokuzalwa ingane enayo kanye nobunzima besifo.

I-Congenital myopathy ingabangela izinkinga zamathambo zesikhathi eside, njenge:

• Ukuncipha kokunyakaza emalungeni.
• Izinkinga ze-hip.

Futhi, isikhathi sokuphila siyahlukahluka kuye ngomuntu nomuntu. Uma ingane yakho inobunzima obukhulu bokuphefumula, ingase ihlupheke ukuphefumula noma ibe nezinkinga ezifana ne-pneumonia. Ezimweni ezimbi kakhulu, lokhu kungaba yingozi empilweni.

Kodwa-ke, ezinye izingane ezinezifo ezincane zingakhula zibe ngabantu abavamile futhi ziphile impilo egcwele. Zingaya esikoleni, zidlale, futhi zenze imisebenzi yazo yasekhaya.

Ngakho-ke, kubalulekile ukukhuluma ngokukhululekile nodokotela wengane yakho ngesimo sayo esithile. Bazokwazi ukukunikeza ulwazi olunembile kakhulu futhi baphendule noma yimiphi imibuzo ongase ube nayo.

Uyini umehluko phakathi kwe-Congenital Myopathy kanye ne-Muscular Dystrophy?

Kungenzeka ukuthi uke wezwa ngesimo esibizwa ngokuthi i-muscular dystrophy. Futhi kuyisifo esibangelwa izakhi zofuzo esenza imisipha ibe buthaka. Kodwa-ke, kunezinhlobo eziningana zomehluko obalulekile phakathi kwalokhu okubili.

• Isikhathi sokuqala kwezimpawu: Ku-myopathy yokuzalwa, izimpawu zivela ekuzalweni noma ebuntwaneni/ebuntwaneni. Kodwa-ke, ku-muscular dystrophy, abanye abantu baba nezimpawu ekuzalweni, kanti abanye bangase babe nezimpawu ebuntwaneni, ebusheni, noma ngisho nasebudaleni.
• Kwenzekani emisipheni: Ku-muscular dystrophy, imisipha iyawohloka kancane kancane futhi ivuseleleke. Futhi, i-muscular dystrophy iyisifo esiqhubekayo, okusho ukuthi izimpawu ziya ziba zimbi ngokuhamba kwesikhathi. Ku-myopathies yokuzalwa, ubuthakathaka bemisipha buvame ukuqina noma bukhula kancane (ngaphandle kwezinye izimo).
• Imiphumela kwezinye izitho zomzimba: I-muscular dystrophy ingathinta nenhliziyo namaphaphu ngokuhamba kwesikhathi. Lokhu akuvamile kakhulu kuma-myopathies azalwa nawo (ngaphandle kwezinhlobo ezithile).
• Ukuxilongwa: Odokotela bangahlukanisa ngokucacile phakathi kwalezi zifo ezimbili ngokusebenzisa izivivinyo ezahlukene zelebhu, ikakhulukazi i-biopsy yemisipha.

Kalula nje, kuma-myopathies azalwa nawo, ubuthakathaka bemisipha buvame ukuhlala bufana ngokuhamba kwesikhathi, noma bungathuthuka kancane (ngaphandle kwezinye izinhlobo ezinzima). Kodwa-ke, i-"Muscular Dystrophy" yisimo esivame ukuba sibi kakhulu.

Okokugcina, izinto okudingeka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ngiyaqonda ukuthi kuwumthwalo omkhulu futhi kuyashaqisa ukuzwa ukuthi ingane yakho inesifo esingavamile, esizalwa naso, futhi kunzima ukusichaza ngamazwi. Kunzima kakhulu ukwamukela.

Kodwa khumbula, awuwedwa. Kunethimba elikhulu lochwepheshe, okuhlanganisa odokotela, ochwepheshe be-physiotherapists, abelaphi bemisebenzi, kanye nabelaphi benkulumo, abalapha ukuzokusiza wena nengane yakho. Umgomo wabo ukusiza ingane yakho iphile isikhathi eside ngangokunokwenzeka, nokuyisiza ukuthi ihlale ikhululekile futhi ikhuthele ngangokunokwenzeka.

Kunezinsizakalo zokusekela ezitholakalayo kuwe nomndeni wakho ukukusiza ubhekane nezinselele zokuphila nokuxilongwa okufana nalokhu. Ngezinye izikhathi, lezi zinsizakalo ziyatholakala ukukusiza ubhekane nokulahlekelwa yingane. Kungase kube nezinhlangano eSri Lanka ezisiza izingane nemindeni ukuthi ithande lokhu, ngakho-ke zibheke.

Yiqiniso, uma othile emndenini wakho eke waba ne-myopathy futhi ulindele umntwana, khuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ngaphambi kokuba ukhulelwe. Bangakusiza ukuthi unqume ingozi yakho yokuba nengane enesifo sofuzo.

Nakuba lolu hambo lunzima, ngolwazi olufanele, iseluleko esifanele sezokwelapha, kanye nokusekelwa kwabathandekayo, uzothola amandla okubhekana nalo. Ungalilahli ithemba. Kwangathi ungathola amandla okwenza konke ongakwenza ngengane yakho!

I- Congenital Myopathy, Ubuthakathaka Bemisipha, Izifo Zobuntwana, Izifo Zofuzo, I-Hypotonia, Ukuhlolwa Kwezakhi Zofuzo, Ukwelashwa Komzimba