Ukuba une-dystrophy ye-muscular okanye ummangali onayo, kufuneka uhlolwe kunye nodokotela wakho. Ukuphatha kakuhle nokuqonda imeko yakho kubaluleke kakhulu ekulawuleni okuphumelelayo kwimeko. Kwaye enye into ebalulekileyo yokuqonda esi sifo ukwazi ukuba yintoni ebangela i-muscular dystrophy.
Ukwazi olu lwazi kunokukunceda ukufumanisa nayiphi na into enokuyenza ukuze unciphise umngcipheko wokufumana.
Iintlobo neeGenetics
Kukho iintlobo ezi-9 ezahlukeneyo kunye nokubonakaliswa kwe-muscular dystrophy. Ekubeni sisifo sesisu, uhlobo oluxhomekeke kuyo ukuguqulwa kwentsholongwane kuye kwenzeka kwi-gene ethile. Ezinye izinto zinokudlala indima, kwaye udidi ngalunye lunokuthi luthwale i-prognosis eyahlukeneyo kunye nenkqubo yokonyango.
Iindidi ze-muscular dystrophy ziquka:
- I-Myotonic (eyaziwa nangokuthi isifo sikaSteinert)
- Duchenne muscular dystrophy
- Becker
- Ibhande-ibhande
- Kuzalwa
- Oculopharyngeal
- Facioscapulohumeral
- Distal
- Emery-Dreifuss
Izizathu eziqhelekileyo
Ukuqonda imbangela ye-muscular dystrophy, kufuneka uqonde ukuba isifo sifaka njani iimfudu zakho. Njengoko kubonisiwe, le meko ibonakaliswe bubuthathaka obuqhubekayo kunye nokutshabalalisa iiseli ezinamahlunu. Kodwa yintoni ebangela ukuba le ntshukumo ichithe?
Yintoni iDystrophin?
Iimisipha zakho zenziwe ngeemfumba zeemfusili. Ezi zibopheko zifakwe kwisigxina, kwaye zijikeleze umgodla zizakhiwo ezahlukeneyo ezinjengeentsimbi kunye neeprotheni.
Ezi zinceda i-fiber muscle-kunye ne-muscle-isivumelwano sakho ngokufanelekileyo.
I-Dystrophin yenye yeeprotheyini ezinxulumene nemisipha yakho. Okokuqala ebonwa ngo-1986, kwaziwa ngokunika unxibelelwano phakathi kwesahlulo sangaphandle semisipha kunye ne-matrix eyongeziweyo apho iifiber ze-muscle zihlala khona. Inxaxheba yeprotheyini kukubonelela ngesakhelo kunye nesakhelo sobunqamle ukuba usebenze kakuhle.
I-Dystrophin idlulisela amandla okwehliswa kwemisipha ukusuka ngaphakathi kwefiber muscle yakho yangaphandle, ekhokelela ekuqhekezeni imisipha yomzimba. Ukungabikho kwe-dystrophin kukhokelela kwiDuchenne muscular dystrophy ngelixa ukuveliswa kwe-dystrophin ephosakeleyo kuholele kwi-dystrophy ye-Becker's muscular dystrophy.
Ezinye izinto ezingaqhelekanga zemizimba kunye neeprotheni zicatshangelwa ukuba zenze ezinye iindidi ze-muscular dystrophy.
Genetics
Ngoko i-genetics ichaphazela njani amathuba akho kunye nezizathu zokufumana i-dysstrophy ye-muscular? Ukuqala, i-genetic defaly eyenza i-muscular dysstrophy ihlala kwi-X ye-chromosome . (Khumbula, ufumana i-chromosome enye kumzali ngamnye; i-X i-chromosome evela kumama wakho. Ukuba i-X i-chromosome evela koyihlo, uya kuba ngumfazi; i-chromosome Y yenziwe ngubawo.
Amadoda anesifo somzimba we-muscular dysstrophy kwi-X ye-chromosome iya kuba nesifo. Baya kudlula loo gena kwiyiphi na inzala yabantwana. Abakwazi ukudlulisela umzi kumntwana wesilisa, njengoko ooyise banikela abantwana babo abesilisa i-Y chromosome. Abasetyhini banokuba ne-gene kwi-X enye ye-chromosome kwaye bayithwala eso sifo ngaphandle kokubonisa ngayo. Ukuba zombini ii-chromosomes zowesifazane ziphethe i-gene defective, inethuba lokubonisa iimpawu zesifo se-dystrophy.
Ngaloo mqondo, ibhinqa linama-50 ekhulwini ithuba lokudlulisa i-X ye-chromosome kumntwana wesilisa okanye wesifazane.
I-dysstrophy ye-muscular iyenzeka ngethuba nangona kungekho nkalo yentsapho yesi sifo. Oku kuya kwenzeka ngenxa yezizathu ezibini, kuquka:
- Ukutshintshwa kwezinto kuye kwaphela kwimihla kwimizi ye-X ye-chromosome yomama.
- Ukuguqulwa kwenzeka njengengxaki entsha kumaseli eqanda lomama.
Gcina ukhumbule ukuba akukho ncinane ongayenzayo ukuchaphazela nayiphi na inguquko yemfuza kuma-chromosomes akho. Xa kukho utshintsho, kukho ithuba lokuba uza kubonisa ezinye iziganeko zesifo.
Izinto zokuPhila kweengozi
Ekubeni kukho imfuza yokufumana i-dystrophy ye-muscular, akukho tshintsho lokuphila ongayenza ukuze unciphise amathuba okufumana. Ukuba i-genetic makeup ikhona kwaye isebenzayo kuma-chromosomes athile emzimbeni wakho, unokufumana i-muscular dysstrophy.
Nangona kunjalo, abaphandi baye bafumanisa izinto ezinobungozi beengxaki kunye nokufa kwasekuqaleni ukuba sele usenayo i-dystrophy ye-muscular. Ngomxholo we-2017 opapashwe kwi- J yethu yase-American Heart Association , abaphandi bafumanisa izinto ezinobungozi eziqhelekileyo ezikhoyo kubantu abane-Duchenne muscular dystrophy abafumana iziphumo ezingenabungozi kuquka nokufa kwangaphambili. Ezi ziquka:
- Ukuba ungaphantsi komlinganiselo njengoko kulinganiswa yinkcazo yomzimba
- Ukuba nomsebenzi wephunga lomfama
- Ukuba negalelo eliphezulu legazi leprotheyini edibene nomonakalo wentliziyo
Abantu abane-Duchenne muscular dysstrophy banokuba nemiphumo ephuculweyo kunye nobomi obude xa umsebenzi wabo womzimba, umsebenzi wephunga kunye nesisindo esifanelekileyo. Oku kunokwenziwa ngoncedo logqirha wakho kunye neqela lezokwelapha.
Ukuqonda imbangela ye-muscular dystrophy kunokunceda ubeke ingqondo yakho lula. Siyisifo esiza kuzaliswa yi-genetic. Oku kushiya omncinci ongakwenza ukukhusela ukuba kwenzeke, kodwa ukuba une-dysstrophy ye-muscular, kufuneka usebenze ngokusondeleyo kunye nogqirha kunye neqela lezokwelapha ukuze ukwandise umsebenzi wakho kunye nesiphumo.
> Umthombo:
> Cheeran, D., et al. I-Predictors of Death to Adult Ad Duchenne Muscular Dystrophy-Associated Cardiomyopathy. Umbhalo we-American Heart Association , 2017; 6 (10): e006340 INGXELO: 10.1161 / JAHA.117.006340