Ngaba izihlunu zomntwana wakho zibonakala zisiba buthathaka? Funda ngeDuchenne Muscular Dystrophy (DMD)

Usenokuba uqaphele ukuba umntwana wakho omncinci uqala ukuba nobunzima bokuhamba nokunyuka izinyuko ukusukela oko wayebaleka edlala. Okanye uziva ngathi uhlala ewa kwaye eziva ediniwe kakhulu? Ezi zinokubonakala ngathi zizinto ezincinci esingazinaki kangako, kodwa zinokuba ziimpawu zokuqala zeemeko ezinzulu. Yiloo nto kanye esiza kuthetha ngayo namhlanje, isifo esibuthathaka kancinci kancinci izihlunu, ingakumbi kubafana.

Yintoni iDuchenne Muscular Dystrophy (DMD)?

Ngamafutshane, i-Duchenne muscular dystrophy, okanye i-DMD , sisifo apho izihlunu zomzimba wethu, izihlunu ezinceda ekushukumiseni amalungu ethu, kunye nezihlunu zentliziyo, zibuthathaka kancinci kancinci kwaye zingasebenzi ngokuhamba kwexesha. Olu lolona hlobo luqhelekileyo nolunzima lwe-muscular dystrophy .

Cinga ngale ndlela: izihlunu zethu zifana neebhanti zerabha ezithambileyo. Kwesi sifo, amandla ezo zihlunu ezithambileyo ayancipha kwaye azisasebenzi kakuhle. Ekuhambeni kwexesha, le meko iba mandundu, ayibi ngcono.

I-DMD idla ngokuba yimfuza, oko kuthetha ukuba idluliselwa kwisizukulwana ukuya kwesinye . Ngokukodwa, idluliselwa njenge- X-linked recessive trait . Oku kuthetha ukuba ukuba umama ungumthwali wesifo, umntwana wakhe unokusifumana kuye. Nangona kunjalo, kwezinye iimeko, malunga ne-30% yamatyala, le meko inokwenzeka ngenxa yotshintsho olutsha lwemfuza , nokuba akukho mntu kusapho lwakhe okhe waba nesi sifo ngaphambili. Oku kuthetha ukuba ngamanye amaxesha inokwenzeka ngokungacwangciswanga.

Ngubani ochaphazeleka kakhulu yile meko ye-DMD?

I-Duchenne muscular dystrophy ichaphazela kakhulu abafana . Nangona kunjalo, amantombazana athwala i-gene ebangela esi sifo ngamanye amaxesha anokubonisa iimpawu ezincinci. Nangona kunjalo, oku akuqhelekanga kakhulu.

Iimpawu zobuthathaka bemisipha zihlala ziqala phakathi kweminyaka emi-2 ne-4 ubudala. Nangona kunjalo, abanye abantwana basenokungaqali ukubonisa ezi mpawu de babe neminyaka emi-6 ubudala. Ke ngoko, ukuba unamathandabuzo, kungcono ukufuna ingcebiso kagqirha.

Ixhaphake kangakanani i-DMD?

Nangona esi sisifo esibi kakhulu, asinto ingaqhelekanga njengoko umntu enokucinga. Izibalo zibonisa ukuba malunga nomnye kubantwana abangama-3,600 abazalwa bephila kwihlabathi liphela une-DMD. I-DMD yenye yezona zifo zixhaphakileyo ze -myopathies ezinzima, ezizuzwe njengelifa, okanye izifo zemisipha yamathambo.

Ngaba i-DMD sisifo esibulalayo?

Ewe, okubuhlungu kukuba, i-DMD ekugqibeleni iyabulala.Esinye isifo. Abantu abaninzi abanale meko bafa ngenxa yeengxaki ezikwimiphunga nakwintliziyo. Kodwa ungakhathazeki, ngonyango lwangoku, kukho iindlela zokwandisa ubomi bakho nokugcina umgangatho wobomi ulungile.

Zithini iimpawu ze-DMD?

Njengoko besitshilo ngaphambili, iimpawu ze-DMD zihlala ziqala phakathi kweminyaka emi-2 ne-4 ubudala. Nangona kunjalo, ngamanye amaxesha zinokuqala kwasebuntwaneni, okanye zivele kamva ebuntwaneni.

Njengoko i-DMD ibangela ubuthathaka bemisipha ngokuhamba kwexesha, ezona mpawu zixhaphakileyo zezi:

• Ubuthathaka bemisipha kunye nokuphelelwa ngamandla (ukuwohloka kwemisipha) okwanda kancinci kancinci, kuqala emilenzeni nasemaqakaleni. Le meko ichaphazela iingalo, intamo, kunye nezinye iindawo zomzimba kancinci.
• Ukuqina kwemisipha yethole (oko kuthetha ukuba imisipha yethole iba nkulu). Oku kwenzeka xa imicu yemisipha ithathelwa indawo yizicubu ezinamafutha kunye nezicubu ezidityanisiweyo.
• Ubunzima bokunyuka izinyuko.
• Ubunzima bokuhamba ngokuhamba kwexesha.
• Ukuwa rhoqo.
• Ukuhambahamba ngeenyawo.
• Ukuhamba ngeenyawo.
• Ukudinwa ngokukhawuleza (ukudinwa).

Khawucinge nje, ukuba unyana wakho uyavuka ekudlaleni phantsi, acinezele izandla zakhe phantsi, aze abeke izandla zakhe emadolweni akhe, aze aphakamise umzimba wakhe kancinci kancinci ngobunzima obukhulu, oko kungaba luphawu lwesi sifo (oku kukwabizwa ngokuba luphawu lukaGowers).

Ukongeza koku, i-DMD inokubangela ezinye iimpawu:

• Isifo semisipha yentliziyo (Cardiomyopathy).
• Ubunzima bokuphefumla kunye nokuphefumla kancinci.
• Ukuphazamiseka kwengqondo kunye nomahluko ekufundeni.
• Ukulibaziseka ekuphuhlisweni kolwimi nokuthetha.
• Ukulibaziseka kophuhliso.
• I-Scoliosis.
• Ubude obufutshane.

Phakathi kwe-2.5% kunye ne-20% yamantombazana aphethe i-gene ebangela i-DMD (abathwali) banokuba neempawu ezincinci, kodwa azisoloko zimbi kakhulu.

Kutheni kwenzeka into efana nale DMD?

Eyona nto ibangela i-DMD kukuguquka kwejini okusebenza ekuvelisweni kwe-dystrophin, iproteni ebalulekileyo ekugcineni izihlunu zethu ziphilile. Le proteni, i-dystrophin, ibalulekile kwi -dystrophin-glycoprotein complex (DGC), esebenza njengeyunithi yesakhiwo sezihlunu.

Kwi-DMD, zombini iiproteni ze-dystrophin kunye ne-DGC ziyalahleka, ekugqibeleni zikhokelela ekufeni kweeseli zemisipha (i-necrosis).Umntu one-DMD ungaphantsi kwe-5% yenani le-dystrophin efunekayo kwimisipha esempilweni.

Njengoko abantu abane-DMD bekhula, izihlunu zabo azikwazi ukutshintsha ezi seli zifileyo ngezintsha. Endaweni yoko , izihlunu ezidityanisiweyo kunye nezihlunu zamafutha zithatha indawo yezihlunu.

Njengoko besitshilo ngaphambili, i-DMD yimeko enxulumene ne-X-linked recessive . Nangona kunjalo, malunga ne-30% yamatyala, inokwenzeka ngokungacwangciswanga, ngaphandle kwembali yosapho.

"I-X-linked" ithetha ukuba i-gene ebangela i-DMD ikwi -chromosome ye-X . Njengoko usazi, amadoda ane-chromosome enye ye-X kunye ne-chromosome enye ye-Y, kwaye amabhinqa ane-chromosome ezimbini ze-X.

Igama elithi "Recessive" lithetha ukuba umntu uza kufumana esi sifo kuphela ukuba unekopi ezimbini zejini ebangela esi sifo. Kodwa amadoda ane-chromosome enye ye-X. Ngoko ke ukuba i-gene mutation ebangela i-DMD ikwi-chromosome ye-X, aza kufumana i-DMD. Ukuze intombazana ifumane i-DMD, kufuneka ibe nale gene mutation kuzo zombini ii-chromosomes zayo ze-X. Oko kunqabile kakhulu. Kodwa ukuba ine-gene mutation kwi-chromosome enye ye-X kuphela, iza kuba ngumthwali wesifo.

Ifunyaniswa njani i-DMD?

Ukuba umntwana wakho ubonakalisa iimpawu ze-DMD, ugqirha uya kuqala enze uvavanyo lomzimba , uvavanyo lwemithambo-luvo, kunye novavanyo lwemisipha . Baza kubuza nangeempawu zomntwana wakho kunye nembali yakhe yezonyango.

Ukuba ugqirha ukrokrela ukuba umntwana une-DMD, kunokwenziwa olu vavanyo lulandelayo:

• Uvavanyo lwegazi lweCreatine Kinase (CK): Xa izihlunu zonakele, i-enzyme ebizwa ngokuba yi-creatine kinase iyanda egazini. Ngoko ke, ukuba inqanaba le-CK liphezulu, linokuba luphawu lwe-DMD. Eli nqanaba lidla ngokuba phezulu xa limalunga neminyaka emi-2 ubudala, kwaye linokuba phezulu ngokuphindwe ka-10-20 kunesiqhelo.
• Uvavanyo lwegazi oluvela kwimfuza: I-DMD inokuqinisekiswa luvavanyo lwemfuza olubonisa ukulahleka okupheleleyo okanye okuncinci kwemfuza ye-dystrophin.
• Uvavanyo lwezihlunu: Ugqirha usenokuthatha isampuli encinci yezihlunu ethangeni okanye etholeni lomntwana wakho. Ingcali iza kujonga isampuli ngemakroskopu ukuze ibone ukuba kukho naziphi na iimpawu ze-DMD.
• I-Electrocardiogram (EKG): Ngenxa yokuba i-DMD idla ngokuchaphazela intliziyo, ugqirha uya kwenza i-EKG ukujonga naziphi na iimpawu ezithile ze-DMD nokuvavanya impilo yentliziyo.

Zithini iindlela zonyango zoku?

Ngelishwa, okwangoku akukho nyango lwe-DMD. Ke ngoko, injongo ephambili yonyango kukulawula iimpawu kunye nokugcina umgangatho wobomi bomntwana ungcono kangangoko kunokwenzeka.

Nazi iindlela zonyango ezixhasayo ze-DMD:

• Ii-Corticosteroids: Amayeza e-steroid, anjenge -prednisolone kunye ne -deflazacort , anceda ekunciphiseni ukulahleka kwemisipha, ukuphucula ukusebenza kwemiphunga, ukunciphisa i-scoliosis, ukunciphisa izinga lobuthathaka bemisipha yentliziyo (cardiomyopathy), kunye nokwandisa ubomi.
• Amayeza e-cardiomyopathy: Ukuqaliswa kwangoko kwamayeza anjenge -ACE inhibitors kunye/okanye ii-beta-blockers kunokulawula ubuthathaka bemisipha yentliziyo kunye nokuthintela ukuhlaselwa yintliziyo.
• Unyango lomzimba: Eyona njongo iphambili yonyango lomzimba kukuthintela ukudumba , okukuqiniswa okungapheliyo kwemisipha, imisipha kunye nolusu. Oku kudla ngokubandakanya umthambo othile wokuzolula.
• Utyando lokulungisa i-spinal stenosis kunye nokuqina kwemisipha: Kwiimeko ezinzima, utyando lunokufuneka ukuze kuncitshiswe ukuqina kwemisipha. Utyando lokulungisa i-spinal stenosis lunokuphucula ukusebenza kwemiphunga kunye nokuphefumla.
• Ukuzilolonga: Ugqirha womntwana wakho udla ngokucebisa ukuba umthambo ube mnene ukuze uthintele ukuwohloka kwemisipha ukuba ingaphindi isetyenziswe. Oku kudla ngokwenziwa kunye nokuzilolonga echibini kunye nemisebenzi yokuzonwabisa.

Ezinye iindlela zonyango ezixhasayo ziquka:

• Izinto ezincedisayo ukuhamba: iibraces, iintonga, kunye nezitulo ezinamavili.
• I-Tracheostomy kunye noncedo lokungenisa umoya kwiingxaki zokuphefumla.

Kwiminyaka embalwa edlulileyo, ixesha lokuphila kwabantu abane-DMD linyuke kakhulu ngenxa yokuqhubela phambili kweenkonzo zokhathalelo oluxhasayo.

Amayeza amatsha amaninzi okwangoku avavanywa kwiklinikhi enokunika ithemba lokunyanga i-DMD. Iindlela ezahlukeneyo zonyango, ezifana ne-"exon skipping" (indlela "edibanisa" inxalenye elahlekileyo okanye eguqukileyo ye-dystrophin gene), zivunyiwe kutshanje yi-FDA (Food and Drug Administration) . Nangona kunjalo, ezi ndlela zonyango zingasetyenziswa kuphela kubantu abambalwa abaneenguqu ezithile ze-genetic. Nangona ezi ndlela zonyango zonyusa ubungakanani beprotheyini ye-dystrophin kwimisipha, azikabonisi ukuphucuka okukhulu kumandla kunye nokusebenza komzimba.

Ngaba le meko ye-DMD ingathintelwa?

Ngenxa yokuba i-DMD yimeko yelifa, akukho nto unokuyenza ukuyithintela . Malunga nesinye kwisithathu seemeko zenzeka ngokungacwangciswanga, kungekho mbali yosapho.

Ukuba ukhathazekile ngengozi yokudlulisela i-DMD okanye ezinye iimeko zofuzo kubantwana bakho ngaphambi kokuba uzame ukuba nomntwana, cinga ngengcebiso yofuzo.Thetha nogqirha wakho ngale nto. Kwezinye iimeko, uvavanyo lwangaphambi kokukhulelwa kwangethuba lunokukwazi ukubona i-DMD.

Luhlobo luni lwemeko olunokulindeleka kwixesha elizayo (Isifo sokuxela kwangaphambili)?

Abantu abane-DMD badla ngokuba neengxaki zokuqikelela ukuba isifo siyaqhubeka na . Oku kubangela ukukhubazeka okuqhubekayo, kwaye abantwana abaninzi abane-DMD baxhomekeke kwisihlalo sabakhubazekileyo xa beneminyaka eli-12 ubudala. I-DMD inokukhokelela ekufeni kwangethuba.

Ingakanani iminyaka yobomi bomntu one-DMD?

Abantu abane-DMD badla ngokufa ngenxa yesi sifo xa beneminyaka engama-25 ubudala. Nangona kunjalo, ngenxa yokuqhubela phambili kwenkathalelo yokuxhasa, abantu abaninzi ngoku baphila ixesha elide.

Ukufa kudla ngokubangelwa ziingxaki zokuphefumla (ukuphefumla) okanye zentliziyo. I-pneumonia, ukufunxa into yangaphandle njengokutya, okanye ukuvaleka kwendlela yomoya nako kunokubangela ukufa.

Umnyamekela njani umntu one-DMD?

Ukuba unyamekela umntu one-DMD, kubalulekile ukumkhuthaza, umncede afumane unyango olungcono kakhulu kunye nonyango olungcono kangangoko , ukuze abe nobomi obungcono kangangoko.

Kusenokuba licebo elihle kuwe nosapho lwakho ukujoyina iqela lenkxaso ukuze nidibane nabanye abantu abaye baba namava afanayo. Kungaba lukhuthazo olukhulu ukwazi ukuba awuwedwa.

Umntwana wam ufanele aye nini kugqirha malunga ne-DMD?

Ukuba umntwana wakho ufunyaniswe ene-DMD, kuya kufuneka abone iqela lakhe lezonyango rhoqo ukuze afumane unyango kwaye ajonge iimpawu.

Ukuqonda imeko yomntwana wakho ene-DMD kunokuba nzima kuwe. Kodwa iqela lakho lezonyango liza kukunika isicwangciso solawulo esicwangcisiweyo esilungiselelwe iimpawu zomntwana wakho. Kubalulekile ukujonga impilo yomntwana wakho nokuqinisekisa ukuba ufumana inkxaso ayidingayo. Khumbula, iqela lakho lezonyango lihlala likhona ukukunceda, wena, usapho lwakho, kunye nomntwana wakho.

Okokugqibela, khumbula oku (Umyalezo Wokuya Ekhaya)

I-Duchenne muscular dystrophy (DMD) yimeko enzima nehlala ixesha elide. Nangona kunjalo, ulwazi, ukubonwa kwangethuba, kunye neengcebiso zonyango ezifanelekileyo kunye nokhathalelo oluxhasayo kunokunceda ukugcina umgangatho wobomi bomntwana uphezulu kangangoko kunokwenzeka.

Khumbula: Awuwedwa. Oogqirha, iingcali zonyango lomzimba, abacebisi, kunye namanye amaqela enkxaso akhona ukunceda wena nomntwana wakho. Uphando malunga nonyango olutsha luhlala lusenzeka. Ngoko ke ungalahli ithemba. Eyona nto ibalulekileyo kukunika umntwana wakho uthando, inkathalo, kunye nenkuthazo.

Ukuba unenkxalabo malunga nezihlunu zomntwana wakho okanye ubunzima bokuhamba, musa ukuyithatha njengento engenamsebenzi loo nto.Bona ugqirha ofanelekileyo ngoko nangoko ukuze ufumane ingcebiso. Okukhona isifo sifunyanwa ngokukhawuleza, kokukhona kuya kuba lula ukusilawula.

I- Duchenne muscular dystrophy, i-DMD, ubuthathaka bemisipha, izifo zemfuza, izifo zamakhwenkwe, i-dystrophin, impilo yabantwana