I-Duchenne muscular dystrophy: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani
• 1. Ukusetyenziswa kwamayeza
• 2. Iiseshoni zePhysotherapy
• Ithini iminyaka yobomi
• Uninzi lweengxaki eziqhelekileyo
• Yintoni ebangela olu hlobo lwe-dystrophy

I-Duchenne muscular dystrophy sisifo esinqabileyo semfuza esichaphazela kuphela amadoda kwaye siphawulwa kukungabikho kweproteni kwimisipha, eyaziwa ngokuba yi-dystrophin, enceda ukugcina iiseli zemisipha zisempilweni. Ke ngoko, esi sifo sibangela ukuba buthathaka ngokuthe ngcembe kwayo yonke imisipha yomzimba, eyenza ukuba kube nzima ngakumbi ukuba umntwana afikelele kwinqanaba elibalulekileyo lokukhula, njengokuhlala, ukuma okanye ukuhamba.

Kwiimeko ezininzi, esi sifo sichongwa kuphela emva kweminyaka emi-3 okanye emi-4 ubudala xa umntwana etshintsha indlela yokuhamba, ukubaleka, ukunyuka izitepsi okanye ukunyuka phantsi, kuba iindawo ezichaphazeleke kuqala zizinqe, amathanga namagxa. Ngokukhula, esi sifo sichaphazela izihlunu ezininzi kwaye abantwana abaninzi baphela bexhomekeke kwisitulo esinamavili kwiminyaka eli-13 ubudala.

I-Duchenne muscular dystrophy ayinyangi, kodwa unyango lwayo lunceda ukulibazisa ukukhula kwesifo, ukulawula iimpawu kunye nokuthintela ukuqala kweengxaki, ngakumbi kwinqanaba lentliziyo kunye nokuphefumla. Ke, kubaluleke kakhulu ukuba unyango kunye nogqirha wabantwana okanye omnye ugqirha ogxile kwesi sifo.

Iimpawu eziphambili

Ezona mpawu ziphambili zeDuchenne muscular dystrophy zihlala zichongwa ukusuka kunyaka wokuqala wobomi ukuya kuthi ga kwi-6 yeminyaka, ziqhubeka zisiba nzima ukutyhubela iminyaka, kude kube, kwiminyaka eyi-13, inkwenkwe ixhomekeke kwisitulo esinamavili.

Ezinye zeempawu kunye neempawu zibandakanya:

• Ukulibaziseka kokukwazi ukuhlala, ukuma okanye ukuhamba;
• Ukugxadazela okanye ukuba nzima ukunyuka izitepsi okanye ukubaleka;
• Ukunyuka kwevolumu kumathole, ngenxa yokutshintshwa kweeseli zemisipha ngamafutha;
• Kunzima ukuhambisa amalungu akho, ngakumbi ukugoba imilenze yakho.

Ukususela ebusheni, iingxaki zokuqala ezinzulu zesi sifo zinokuqala ukubonakala, ezizezi, ubunzima bokuphefumla ngenxa yokwehla kwesithambisi kunye nezinye izihlunu zokuphefumla, kunye neengxaki zentliziyo, ngenxa yokuba buthathaka kwentliziyo yemisipha.

Xa iingxaki ziqala ukuvela, ugqirha unokulungelelanisa unyango ukuzama ukubandakanya unyango lweengxaki kunye nokuphucula umgangatho wobomi. Kwiimeko ezinzima kakhulu, ukulaliswa esibhedlele kunokuba yimfuneko.

Indlela yokuqinisekisa ukuxilongwa

Kwiimeko ezininzi, ugqirha wabantwana uyayikrokrela i-Duchenne muscular dystrophy kuphela ngokuvavanya iimpawu kunye neempawu ezivezwe ngexesha lophuhliso.Nangona kunjalo, zinokwenziwa kwigazi ukuchonga ubungakanani bee-enzyme, ezinje nge-creatine phosphokinase (CPK), ekhutshelwa egazini xa kukho ukuphazamiseka kwemisipha.

Kukwakho novavanyo lwemfuzo, olunceda ekufikeleleni kwisifo esiqinisekileyo, kwaye esijonga utshintsho kwimfuza ejongene nesi sifo.

Unyango lwenziwa njani

Nangona iDuchenne muscular dystrophy ingenalo unyango, lukhona unyango olukunceda ukuthintela ukwanda ngokukhawuleza kwaye okuvumela ulawulo lweempawu, kunye nokubonakala kwengxaki. Olunye lonyango lubandakanya:

1. Ukusetyenziswa kwamayeza

Kwiimeko ezininzi, unyango lweDuchenne muscular dystrophy lwenziwa ngokusetyenziswa kwamayeza e-corticosteroid anje nge-prednisone, prednisolone okanye deflazacort. La machiza kufuneka asetyenziselwe ubomi bonke, kwaye abe nentshukumo yokulawula amajoni omzimba, esebenza njenge-anti-inflammatory kunye nokulibaziseka kokuphulukana nokusebenza kwezihlunu.
Nangona kunjalo, ukusetyenziswa kwexesha elide kwe-corticosteroids kuhlala kubangela iziphumo ebezingalindelekanga ezininzi njengokunyuka kwesidlo, ukutyeba, ukutyeba kakhulu, ukugcinwa kwamanzi, i-osteoporosis, ubude obufutshane, uxinzelelo lwegazi kunye neswekile, kwaye kufuneka zisetyenziswe kuphela phantsi kweliso likagqirha. Jonga ngakumbi malunga nokuba zeziphi ii-corticosteroids kwaye ziyichaphazela njani impilo.

2. Iiseshoni zePhysotherapy

Iindidi ze-physiotherapy zihlala zisetyenziselwa ukunyanga i-Duchenne muscular dystrophy ziimoto kunye nokuphefumla kwe-kinesiotherapy kunye ne-hydrotherapy, ejolise ekulibaziseni ukungakwazi ukuhamba, ukugcina amandla emisipha, ukunciphisa iintlungu kunye nokuthintela iingxaki zokuphefumla kunye nethambo.

Ithini iminyaka yobomi

Ixesha lokuphila leDuchenne muscular dystrophy laliphakathi kweminyaka eli-16 ukuya kweli-19 ubudala, nangona kunjalo, ngokuqhubeka kwamayeza kunye nokuvela kweendlela zonyango kunye nokhathalelo, oku kulindelwe kuye kwandiswa. Ke, umntu ofumana unyango olucetyiswe ngugqirha unokuphila ngaphezulu kweminyaka yobudala engama-30 kwaye aphile ubomi obuqhelekileyo, kunye neemeko zamadoda aphila ngaphezulu kweminyaka engama-50 esi sifo.

Uninzi lweengxaki eziqhelekileyo

Ezona ngxaki ziphambili zibangelwa yiDuchenne muscular dystrophy zezi:

• Scoliosis enkulu;
• Ubunzima bokuphefumla;
• Ukukrala kwemiphunga;
• Ukungoneli kwentliziyo;
• Ukutyeba kakhulu okanye ukungondleki.

Ukongeza, abaguli abanesifo se-dystrophy banokufumana ukulibaziseka kwengqondo okuphakathi, kodwa olu phawu alunxibelelananga nexesha okanye ubungqongqo besifo.

Yintoni ebangela olu hlobo lwe-dystrophy

Njengesifo semfuza, iDuchenne's muscular dystrophy yenzeka xa kuguquka into eyenzeka kuhlobo olunye olunoxanduva lokubangela ukuba umzimba uvelise iprotein ye-dystrophin, i-gene ye-DMD. Le protein ibaluleke kakhulu kuba inceda iiseli zemisipha ukuba zihlale zisempilweni ngokuhamba kwexesha, zikhusele ukwenzakala okubangelwa kukuncipha kwemisipha kunye nokuphumla.

Ke ngoko, xa utshintsho lwe-DMD luguqulwa, ayonelanga iprotein eveliswayo kwaye izihlunu ziphela zibuthathaka kunye nokulimala ngokuhamba kwexesha. Le protein ibalulekile kuzo zombini izihlunu ezilawula intshukumo, kunye nentliziyo yemisipha.