Ingaba izihlunu zomntwana wakho ziqinile kwaye kunzima ukuvula iingalo zakhe? Masifunde nge (Myotonia Congenita)!

Ngaba wakha waphawula ukuba ngamanye amaxesha xa umntwana wakho ebamba ithoyizi ngokuqinileyo, kuthatha ixesha ukuyiyeka kwakhona? Okanye ngaba ngequbuliso uziva ngathi uqinile ngelixa ebaleka edlala? Kuqhelekile ukuba umzali azive esoyika xa ebona izinto ezinje. Namhlanje siza kuthetha ngemeko enokubangela ezi mpawu, kodwa ayiqhelekanga kangako.

Yintoni iMyotonia Congenita?

Ngamafutshane, iMyotonia Congenita yimeko yemfuza . Kule meko, izihlunu zethu azikwazi ukuphumla ngokukhawuleza emva kokushwabana. Khawuthelekelele umntwana wakho ebambe ibhola yokudlala ngokuqinileyo esandleni sakhe. Ngokwesiqhelo, xa umxelela ukuba ayikhulule, uya kuyikhulula ngoko nangoko. Kodwa umntwana onayo le meko unobunzima bokuyikhulula yonke ngaxeshanye. Isandla sinokuziva siqinile okwethutyana.

Le meko idla ngokuqala ebuntwaneni okanye ebusheni . Ukongeza ekuqineni kwemisipha, ezinye iimpawu zinokuvela, ezifana ne-muscle hypertrophy, oku kukubonakala kwemisipha.

Oogqirha babeka oku njengesifo se-myotonia esingesiso esokudumba. Oko kuthetha ukuba akukho monakalo mkhulu kwisakhiwo sezihlunu zomntwana wakho. Ziphilile. Nangona kunjalo, kukho ingxaki encinci kwinkqubo yombane elawula ukudumba kwezihlunu. Kukho ezinye izifo ezenzeka kwi-myotonia, ezibizwa ngokuba yi-'dystrophic myotonias.' Kwezi, isakhiwo sezihlunu siyachaphazeleka.

Kuqhelekile ukuba nexhala kwaye uloyiko xa sibona utshintsho emzimbeni womntwana wethu. Kodwa into ekufuneka uyazi kukuba le meko, ebizwa ngokuba yi-myotonia congenita , ayibi mandundu ngokuhamba kwexesha . Ngonyango lomzimba kunye nolunye unyango, ezi mpawu zinokulawulwa kakuhle.

Ziziphi iintlobo eziphambili zeMyotonia Congenita?

Kukho iintlobo ezimbini eziphambili zale meko, masibone ukuba zeziphi.

1. Isifo sikaBecker

Olu lolona hlobo luqhelekileyo lwe-myotonia congenita. Inokubangela ubuthathaka bemisipha kwiingalo nasemilenzeni yomntwana. Iimpawu zesifo sikaBecker zihlala zibonakala phakathi kweminyaka emi-4 neli-12 ubudala. Nangona kunjalo, oku kwahlukile kwi-Becker muscular dystrophy, ngoko ke musa ukuyibhidanisa ne-Becker muscular dystrophy.

2. Isifo saseThomsen

Olu luhlobo olungaqhelekanga noluncinci lwe-myotonia congenita. Iimpawu zihlala ziqala kwiinyanga ezimbalwa zokuqala zobomi kwaye zinokuthatha iminyaka emi-2-3 .

Ixhaphake kangakanani iMyotonia Congenita?

Le yimeko engaqhelekanga kakhulu.Esi sifo sichaphazela malunga nomntu omnye kwikhulu lamawaka. Nangona kunjalo, esi sifo sibonakala rhoqo kubantu bamazwe aseScandinavia afana neFinland, iNorway, neSweden. Kula mazwe, kuxelwe ukuba malunga nomntu omnye kwishumi lamawaka unaso esi sifo.

Zithini iimpawu zeMyotonia Congenita?

Uphawu oluphambili lwale meko kukuba izihlunu ziyacotha ukuphumla emva kokuba ziqokelelene . Oku sikubiza ngokuba yi-myotonia. Le meko ye-myotonia inokuba mandundu xa uqala umsebenzi emva kwexesha lokuphumla okanye kwindawo ebandayo.

Ezinye iimpawu umntwana wakho anokuzibona ziquka:

• Ubunzima bokutya, ukukrwitshwa, isicaphucaphu, kunye nokubuyela umva kwesisu – ingakumbi ebuntwaneni. Umzekelo, abanye abantwana banokuziva ngathi bafumana ukutya okuninzi emqaleni wabo nangona besele ubisi oluncinci.
• Ukuwa rhoqo kunye nokungabikho kokulinganisela (ukungakhathali) – Oku kunokubonwa nasemva kokuba uqale ukuhamba kwaye sele uqhelene nako.
• Iliso elibona kabini okanye elivila.
• Izihlunu ziyakhula (hypertrophy) , nto leyo enokukwenza ubonakale ngathi ngumdlali wezemidlalo.
• Ukuqaqamba kwemisipha.
• Ukuqina kwemisipha , ingakumbi emilenzeni yomntwana. Nangona kunjalo, oku kuqina kunokuncipha ngokushukuma naxa umzimba ufudumala. Oku kubizwa ngokuba 'yimeko yokufudumala' .
• Ubuthathaka , ingakumbi ukuba umntwana wakho unesifo iBecker.
• I-Scoliosis kukugoba okungaqhelekanga komqolo.

Abantwana abangamakhwenkwe banokuchaphazeleka kakhulu kunabantwana abangamantombazana. Iimpawu zinokuba mandundu okwethutyana ngexesha lokukhulelwa kunye nokuya esikhathini.

Iimpawu zesifo sikaThomsen zihlala ziqala kwangethuba kwaye ziqale zichaphazele ubuso nezandla zomntwana. Iimpawu zesifo sikaBecker zihlala ziqala kamva kwaye ziqale zichaphazele imilenze .

Yintoni ebangela iMyotonia Congenita?

I-Myotonia Congenita ibangelwa kukuguquka kwe-gene CLCN1 . Le gene ichaphazela imijelo ye-chloride kwi-membrane yemisipha yemisipha yethu. Yiyo loo nto izihlunu zinengxaki yokuphumla emva kokuba ziqokelelene.

Isifo sikaBecker (BD) sizuzwa njengelifa kwi-autosomal recessive pattern . Oku kuthetha ukuba bobabini abazali bomntwana kufuneka bathwale utshintsho lwezakhi zofuzo, kwaye bobabini kufuneka baludlulisele emntwaneni. Nangona kunjalo, abo bazali ababonisi zimpawu. Bangabathwali nje bezakhi zofuzo.

Yintoni isifo sikaThomsen (TD)?Imeko elawulayo ye-autosomal. Kwimeko enjalo, nokuba ngumzali omnye kuphela onotshintsho lwe-gene, umntwana unokulufumana njengelifa.

Ifunyanwa njani iMyotonia Congenita?

Oogqirha badla ngokuxilonga esi sifo besebancinci. Ugqirha wakho uya kubuza ngeempawu zomntwana wakho kunye nembali yempilo yosapho lwakho. Emva koko baya kwenza uvavanyo oluthile ukujonga iingxaki ngeentsini. Ezi zinokubandakanya:

• Ukuxelela umntwana ukuba avule aze avale amehlo ngokukhawuleza .
• Ukubona ukuba umntwana angakwazi na ukubamba into esandleni sakhe aze ayiyeke ngokukhawuleza, okanye ukuba angakwazi na ukuvula isandla sakhe ngokukhawuleza ngokuyicinezela .
• Ukucofa kancinci inyama yomntwana ngesando esincinci (i-percussor) ukuze ubone ukuba iyaqina na.

Ugqirha wakho unokucebisa nezinye iimvavanyo ezininzi ukuqinisekisa ukuxilongwa okanye ukuthintela ezinye iimeko ezibangela iimpawu ezifanayo. Ezi mvavanyo ziquka:

• Uvavanyo lwegazi lweCreatine Kinase (CK): Amanqanaba e-CK anokuba phezulu kwi-myotonia congenita.
• I-Electromyography (EMG): Olu vavanyo lulinganisa iimpulselelo zombane ezivela kwimisipha. Oku kunokunceda ukwahlula phakathi kweengxaki ezinxulumene nemisipha kunye nezifo ezinxulumene nemithambo-luvo. Nangona kunjalo, kunzima ukubona umahluko phakathi kweentlobo ezimbini ze-myotonia congenita ngokusekelwe kwiziphumo ze-EMG.
• Uvavanyo lwemfuza: Oku kukhangela utshintsho lwemfuza olubangela i-myotonia congenita.
• I-biopsy yemisipha: I-biopsy eyenziwa kwi-myotonia congenita idla ngokubonakala iqhelekile, kodwa ngamanye amaxesha izinto ezincinci ezingaqhelekanga zinokubonakala.

Ziziphi iindlela zonyango lweMyotonia Congenita?

Akukho nyango lwale meko. Umntwana wakho usenokungadingi naluphi na unyango olukhethekileyo. Ukuphumla kunye nokuzilolonga kancinci kunokunceda ekunciphiseni ukuqina kwemisipha. Ugqirha wakho unokucebisa nonyango lomzimba ukunceda ukugcina ukusebenza kwemisipha.

Kwezinye iimeko, umntwana wakho angazuza kumayeza. Ugqirha wakho angakunika amayeza anjenge -mexiletine okanye i-ranolazine ukunciphisa ukuxhaphaka kunye nobunzima bokuxhuzula. Amanye amayeza anjenge -lamotrigine kunye ne-carbamazepine nawo anokunceda, kodwa ngamanye amaxesha anokubangela iziphumo ebezingalindelekanga ezingathandekiyo.

Nazi ezinye izinto wena, umntwana wakho, kunye nosapho lwakho eninokuzenza ukulawula iimpawu ze-myotonia congenita kunye nokuphepha izinto ezibangela oku:

• Ukuzigcina kude neendawo ezibandayo.
• Ukuzibandakanya kwimisebenzi yomzimba rhoqo– Iimpawu zisenokuphela xa inyama yomntwana ifudumala kancinci (oku kubizwa ngokuba 'yimeko yokufudumeza').
• Ukulawula uxinzelelo.
• Ukuba kuyimfuneko, tshintsha indlela otya ngayo ; oku kuthetha ukunika umntwana ukutya okulula ukuginya ukuze kuncitshiswe umngcipheko wokukrwitshwa. Umzekelo, ukuba banengxaki yokutya ukutya okuqinileyo, banokutyunyuzwa baze bathambe.

Ngaba iMyotonia Congenita ingathintelwa?

I-Myotonia Congenita ibangelwa kukuguquka kwezakhi zofuzo, ngoko ke akukho nto unokuyenza ukuyithintela . Ukuba kukho umntu kusapho lwakho onayo le meko, okanye ukuba unayo ngokwakho kwaye uceba ukuba nabantwana, kulungile ukubona umcebisi wezakhi zofuzo . Angakufundisa ngomngcipheko wokudlulisela esi sifo kubantwana bakho.

Liyintoni ikamva lomntu oneMyotonia Congenita? (Ingxelo yokuxela kwangaphambili)

I-Myotonia Congenita ayibi mbi ngokuhamba kwexesha . Iimpawu zomntwana wakho ziya kuhlala zifana ubomi bakhe bonke. Unyango lomzimba kunye nokuphepha izinto ezenza iimpawu zibe mbi kunokunceda umntwana wakho ahlale ekhuthele kwaye aqhubeke nemisebenzi eqhelekileyo. Abantu abane-myotonia congenita banokuthatha inxaxheba kwimidlalo kwaye baphile ubomi obuqhelekileyo. Kwisifo sikaBecker, umntwana unokuba nobuthathaka njengoko ekhula.

Ingakanani iminyaka yobomi bomntu one-Myotonia Congenita?

Abantu abaneMyotonia Congenita baphila ubomi obuqhelekileyo . Le meko ayichaphazeli ezinye iinkqubo zomzimba.

Umntwana wam ufanele aye nini kugqirha?

I-Myotonia Congenita yimeko ehlala ixesha elide . Nangona ingasoloko imbi okanye itshintshe, umntwana wakho kuya kufuneka abone ugqirha wakhe rhoqo ukuba uthatha amayeza ayo. Iimfuno zonyango lomzimba zinokutshintsha njengoko umntwana wakho ekhula.

Okubalulekileyo kukuba, i-myotonia congenita inokuchaphazela indlela umntwana wakho asabela ngayo kwi-anesthesia . Ke ngoko, ukuba umntwana wakho ucwangciselwe utyando, kufuneka uxelele ugqirha wakho ngalo mba. Kufuneka wazise nogqirha we-anesthesia oza kukhathalela umntwana wakho ngexesha lotyando.

"Kuqhelekile ukuziva wothukile kakhulu xa izihlunu zomntwana wakho zingasebenzi kakuhle. Usenokukhathazeka ngokuba oku kuya kuba kubi kangakanani, kwaye kuya kuyichaphazela njani ubomi bomntwana wakho kunye nobomi bosapho lwakho. Kodwa iindaba ezimnandi zezokuba i-myotonia congenita inokulawulwa kakuhle ngonyango lomzimba kunye notshintsho oluncinci onokulwenza ekhaya nakubomi bakho bemihla ngemihla. Khumbula, ugqirha wakho uhlala ekhona ukukunceda ngeenkxalabo zakho kwaye aphendule nayiphi na imibuzo onokuba nayo."

Ezona zinto zibalulekileyo ekufuneka sizikhumbule kweli bali (Umyalezo Wokuya Ekhaya)

Kulungile, makhe sijonge izinto ezilula ekufuneka sizikhumbule malunga ne-myotonia congenita esithethe ngayo:

• Le yimeko engaqhelekanga yemfuza . Uphawu oluphambili kukuba xa izihlunu zifinyela, ziba nobunzima bokuphumla ngokukhawuleza.
• Kukho iintlobo ezimbini zesifo sikaBecker: isifo sikaBecker kunye nesifo sikaThomsen.
• Oku akudli ngokuba kubi ngakumbi ngokuhamba kwexesha .
• Nangona kungekho ndlela ithile yonyango, iimpawu zinokulawulwa kakuhle ngonyango lomzimba, amayeza athile, kunye notshintsho kwindlela yokuphila .
• Umntwana angaphila ubomi obuqhelekileyo aze adlale imidlalo .
• Ukuba umntwana wakho udinga utyando, kufuneka ulumke kakhulu malunga ne-anesthesia .
• Ungoyiki ukubuza ngale nto. Thetha nogqirha wakho uze ufumane iingcebiso kunye nenkxaso oyifunayo . Khumbula ukuba awuwedwa.

I- Myotonia Congenita, I-Myotonia Congenita, Izifo zeMfuzo, Ukuqina kweMisipha, Izifo zabantwana, Isifo sikaBecker, Isifo sikaThomson