Ingabe uzwa ubuhlungu bemisipha ngisho nangemva kokuzilolonga kancane? Lokhu kungaba yisifo sikaMcArdle!

Nawe ngezinye izikhathi uzizwa ubuhlungu futhi ubuthakathaka uma uzivocavoca noma wenza okuthile okudinga umzamo omncane, akunjalo? Lokho kuvamile. Kodwa kwabanye abantu, lesi simo sinzima kakhulu. Ngisho nokwenza into encane kukwenza ukhathale ngokushesha, futhi imisipha yakho iba buhlungu futhi iqine. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele usiqaphele. Lokhu kubizwa ngokuthi isifo sikaMcArdle, noma `isifo sokugcina i-glycogen uhlobo 5 (GSD5)`.

Iyini i-McArdle Disease?

Kalula nje, isifo sikaMcArdle siyisifo sofuzo esithinta imindeni yethu . Sithinta kakhulu imisipha yamathambo akho. Okusho ukuthi, imisipha esiyisebenzisayo ukuhambahamba, ukuphakamisa izinto, nokuhamba.

Lesi sifo sibangelwa ukuntuleka noma ukungabikho ngokuphelele kwe-enzyme ekhethekile emisipheni yethu ebizwa ngokuthi 'imisipha ye-glycogen phosphorylase' noma 'i-myophosphorylase'. Uma le enzyme ingekho nhlobo, imisipha yethu ayikwazi ukukhiqiza amandla adingekayo. Yingakho izimpawu ezifana nobuhlungu bemisipha, ukuqina, kanye nokukhathala zivela ngesikhathi sokuzivocavoca noma lapho sikhathele.

Izimpawu zivame ukuqala ukuvela ngemva kweminyaka engu-15-20, noma eminyakeni engu-20 noma engu-30 . Kodwa-ke, ngezinye izikhathi zingavela kunoma yimuphi ubudala. Lesi sifo siqanjwe ngokuthi "McArdle" ngegama likaDkt. Brian McArdle, owasibika okokuqala ngo-1951.

Sivame kangakanani lesi sifo?

Isifo sikaMcArdle empeleni siyisimo esingavamile kakhulu . Ngokusho kwabacwaningi, sithinta phakathi komuntu oyedwa kwabangu-50,000 noyedwa kwabangu-200,000 e-United States.

Ziyini izimpawu?

Izimpawu zalesi sifo zingahluka kakhulu kumuntu nomuntu. Abanye abantu bangase babe nezimpawu ezincane kakhulu, kanti abanye bangase bathinteke kakhulu.

Uphawu oluyinhloko noluvame kakhulu ukungabekezeleli ukuvivinya umzimba, okusho ukuzizwa ukhathele ngokushesha lapho wenza umsebenzi womzimba . Ezinye izimpawu yilezi:

• Ukuqaqamba kwemisipha
• Ubuthakathaka
• Ukukhathala
• Ubuhlungu bemisipha
• Ukuqina kwemisipha

Zonke lezi zimpawu zingavela ngokushesha nje lapho uqala ukuzivocavoca. Kodwa zivame ukuphela ngemva kokuphumula isikhashana . Ngokumangalisayo, abanye abantu bathola ukuthi ngemva kokuzizwa bekhathele ekuqaleni, uma bephumula isikhashana bese benza ukuzivocavoca okufanayo futhi, bangakwenza kangcono kunangaphambili. Lokhu kubizwa ngokuthi "umoya wesibili." Kufana nokuba nomoya wesibili. Uma ungazivivinyi, ngokuvamile awuzizwa izimpawu.

Ungase ukwazi ukwenza ukuzivocavoca okulula nokumnene, njengokuhamba endaweni eqondile, ngaphandle kwezinkinga. Kodwa-ke, umsebenzi onzima womzimba ungabangela izimpawu ngokushesha. Ikakhulukazi, ukuzivocavoca okuhilela ukubamba imisipha endaweni yayo ngaphandle kokunyakaza, njengokuzivocavoca kwe-isometric , ukuquleka, nokuma ngezinzwane zakho, kungalimaza imisipha. Cabanga ngokungakhululeki okuzwayo lapho uphakamisa isilinda segesi noma uphethe isikhwama esindayo.

Ingabe lokhu kungabangela izinkinga ezinkulu? (Izinkinga)

Yebo, ngezinye izikhathi kungaba nezinkinga ezinkulu. Cishe ingxenye yabantu abanesifo sikaMcArdle iba nesimo esibizwa ngokuthi 'i-rhabdomyolysis' ngemva kokuzivocavoca kakhulu . Yilapho imisipha iphuka khona.

I-Rhabdomyolysis yisimo esibi kakhulu, esisongela ukuphila esingaholela ekuhlulekeni kwezinso okungazelelwe (ukwehluleka kwezinso okukhulu) kanye namazinga aphezulu e-potassium egazini (i-hyperkalemia).

Ngakho-ke, kudingeka uqaphele kakhulu ukuthi uvivinya umzimba kangakanani nokuthi uvivinya kangakanani. Lokhu kuzosiza ekuvimbeleni isimo esithi `rhabdomyolysis`. Uma uhlangabezana nanoma yiziphi izimpawu ezifana nokuvuvukala kwemisipha, umchamo omnyama (onsundu, obomvu, onombala wetiye) , kufanele ufune iseluleko sikadokotela ngokushesha .

Kungani lokhu kwenzeka? Yiziphi izizathu zalokhu?

Isifo sikaMcArdle siyisimo sofuzo . Ngokukhethekile, sibangelwa izinguquko ku-gene `PYGM`. Ngokuvamile, le gene `PYGM` iyala umzimba wethu ukuthi wenze i-enzyme ebizwa ngokuthi `myophosphorylase`.

Le enzyme itholakala kuphela kumaseli ethu emisipha yamathambo. Iphula i-glycogen (ushukela ogciniwe) emisipheni ibe yi-glucose-1-phosphate. Le glucose-1-phosphate ibe isiguqulwa ibe yi-glucose. I-glucose iwumthombo oyinhloko wamandla emzimbeni wethu . Uma sizivocavoca, imisipha yethu isebenzisa kakhulu le glucose.

Manje, lapho i-enzyme ethi `myophosphorylase` ikhiqizwa kancane noma ingakhiqizwa nhlobo ngenxa yezinguquko ku-gene ethi `PYGM`, amangqamuzana ethu emisipha awakwazi ukuphula i-`glycogen` kahle futhi akhiqize amandla (`glucose`). Yingakho imisipha ikhathala ngokushesha.

Abacwaningi kuze kube manje sebethole izinhlobo ezahlukene ezingu-179 (izinhlobo) ezithinta i-gene ethi 'PYGM'.

Indlela isifo sikaMcArdle esizuzwa ngayo njengefa

Uthola lesi sifo njengefa kubazali bakho bemvelo, ngendlela "efana ne-autosomal recessive" . Kalula nje, bobabili abazali kumele babe "abathwali" be-gene eshintshiwe, okusho ukuthi bobabili bane-gene eseduze.Abantu abathwala lesi sifo ngokuvamile ababonisi zimpawu. Kodwa-ke, uma bobabili abazali bengabathwali futhi bobabili bedlulisela isakhi sofuzo esishintshile ezinganeni zabo, lesi sifo sizokhula.

Odokotela bakuthola kanjani lokhu? (Ukuxilongwa)

Odokotela basebenzisa kakhulu ukuhlolwa kokuzivocavoca kwengalo ukuthola lesi sifo. Lokhu kuhilela ukuthatha amasampula egazi ngaphambi nangemva kokuzivocavoca okuncane ngengalo yakho. Ngokukhethekile, babheka amazinga `e-lactic acid` kanye `ne-ammonia` .

Ngokuvamile, amazinga e-lactic acid kufanele akhuphuke cishe kathathu ngemva kokuzivocavoca. Kodwa-ke, uma amazinga akho e-lactic acid engaphakeme kulolu vivinyo, kuyisibonakaliso sokuthi ungase ube nesifo sikaMcArdle.

Kunezinye izivivinyo ezingasiza ekuqinisekiseni lesi sifo:

• Ukuhlolwa kwegazi kwe-Creatine kinase (CK): Uma imisipha yonakele, i-enzyme ebizwa ngokuthi i-creatine kinase (CK) iyanqwabelana egazini. Abantu abanesifo sikaMcArdle bangase babe namazinga aphezulu e-CK njalo.
• Ukuhlolwa kokucindezeleka kokuzivocavoca okunezinga: Lokhu kungahlola lesi simo esaziwa ngokuthi "umoya wesibili." Udokotela uzokwenza wenze imijikelezo embalwa yokuzivocavoca, uphumule phakathi, bese ebona ukuthi ungakwazi yini ukwenza ukuzivocavoca kahle ngemva kokunye.
• Ukuhlolwa kwemisipha: Kulolu vivinyo, udokotela uthatha isampula encane yemisipha yakho yamathambo bese eyithumela elabhorethri ukuze ihlolwe ngaphansi kwe-microscope. Udokotela wezifo ubheka izicubu ukuze abone ukuthi zikhona yini izimpawu zesifo sikaMcArdle.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kungase kukwazi ukuhlonza ukuguquka kwezakhi zofuzo okubangela isifo sikaMcArdle.

Yini esingayenza ngalokhu? (Ukwelashwa)

Ngeshwa, ayikho ikhambi lesifo sikaMcArdle. Ukwelashwa okuyinhloko ukugwema imisebenzi ekhulisa izimpawu zakho. Kodwa-ke, ukungenzi nhlobo umsebenzi womzimba akukuhle empilweni yakho.

Ucwaningo lukhombisile ukuthi ukwelashwa kokuzivocavoca kwe-aerobic okunamandla aphakathi nendawo kungaba wusizo kubantu abanesifo sikaMcArdle. Abantu abenza lolu hlobo lokuzivocavoca baye banciphisa kakhulu ukungabekezeleli ukuzivocavoca, futhi bangaphinde bazizwe "umoya wesibili" ngokushesha ngesikhathi sokuzivocavoca. Ungasebenzisana nodokotela wakho kanye nodokotela wezokwelapha ngokomzimba ukuthola uhlelo lokwelapha lokuzivocavoca olungcono kakhulu kuwe.

Futhi, ukudla okucebile ngama-carbohydrateUcwaningo lubonisa ukuthi ukuyithatha kunganciphisa nobunzima bezimpawu ezenzeka ngesikhathi sokuzivocavoca. Lokhu kusiza imisipha yakho ukuthi isebenzise i-glucose (ushukela) egazini lakho esikhundleni se-glycogen ukuze ithole amandla. Udokotela wakho noma isazi sokudla esibhalisiwe singancoma uhlelo lokudla olufana nalolu:

• Ama-65% amakhalori akho ansuku zonke kufanele avele kuma-carbohydrate ayinkimbinkimbi (kusukela ezintweni ezifana nemifino, izithelo, isinkwa, i-pasta, nelayisi).
• Ama-calories angu-20% avela kumafutha .
• Ama-calories angu-15% avela kumaprotheni .

Kungasiza futhi ukuphuza ushukela olula, njengesiphuzo sezemidlalo esinoshukela, ngaphambi nje kokuzivocavoca.

Kunjani ukuphila nalokhu?

Iningi labantu abanesifo iMcArdle baphila impilo ejwayelekile . Abanye abantu bangase babe nobuthakathaka obuqhubekayo kanye nokulahlekelwa yimisipha ('atrophy') kamuva ekuphileni, ngokuvamile lapho sebeneminyaka engu-60 noma engu-70.

Into ebaluleke kakhulu ukuqaphela izimpawu zesimo se-'rhabdomyolysis' esishiwo ngenhla nokuvimbela ukuthi singenzeki ngangokunokwenzeka, njengoba kuyimbangela eyinhloko yalesi sifo.

Ingakanani iminyaka yokuphila komuntu onalesi sifo?

Isifo sikaMcArdle ngokuvamile asisithinti isikhathi sokuphila komuntu .

Kodwa-ke, akuvamile kakhulu ukuba khona kwesimo esibizwa ngokuthi i-`infantile McArdle syndrome` , esibonakala cishe ngokushesha ngemva kokuzalwa. Lokhu kuyabulala – izimpawu ziba zimbi kakhulu futhi ziba zimbi ngokushesha.

Ingabe isifo sikaMcArdle singavinjelwa?

Njengoba lesi kuyisimo sofuzo, akukho esingakwenza ukusivimbela .

Uma ukhathazekile ngengozi yakho yokuthola isifo sikaMcArdle noma ezinye izifo zofuzo ngaphambi kokuba ube nomntwana, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Kufanele ngimbone nini udokotela?

Uma izimpawu zakho ziba zimbi kakhulu, noma uma ikhono lakho lokwenza imisebenzi yakho evamile yomzimba lishintsha, bona udokotela wakho.

Kungase kudingeke futhi ukuthi ubonane nodokotela wezokwelapha ngokomzimba kanye/noma uchwepheshe wezokudla njalo ukuze uthole isiqondiso ngohlelo lwakho lokwelashwa.

Kufanele uye nini e-Emergency Treatment Unit (ETU) ?

Uma unezimpawu ze-`rhabdomyolysis`, kufanele uye ekamelweni lezimo eziphuthumayo (ETU) ngokushesha okukhulu . Izimpawu yilezi:

• Ukuvuvukala kwemisipha
• Ubuthakathaka bemisipha
• Ubuhlungu nobuhlungu lapho uthinta imisipha
• Umchamo omnyama (onsundu, obomvu, onombala wetiye)
• Ukuphelelwa amanzi emzimbeni
• Ukuncipha kokuchama
• Isicanucanu
• Ukulahlekelwa ingqondo

Isifo sikaMcArdle singenza kube nzima ukwenza eminye imisebenzi yomzimba. Kodwa izindaba ezinhle ukuthi,Kulawuleka futhi akunamthelela omkhulu empilweni yakho iyonke. Udokotela wakho uzosebenza nawe ukuthola uhlelo lokwelashwa olungcono kakhulu kuwe.

Umlayezo Wokuya Nawe Ekhaya

Kulungile, ake sikukhumbuze izinto ezimbalwa esixoxe ngazo esicabanga ukuthi zibalulekile kuwe:

Isifo sikaMcArdle siyisifo sofuzo esibangelwa ukuntuleka kwe-enzyme esiza imisipha ukuthi ikhiqize amandla.

Izimpawu eziyinhloko ukukhathala ngokushesha, ubuhlungu bemisipha, nokuguqa lapho uzivocavoca.

Qaphela inkinga enkulu ebizwa ngokuthi i-'rhabdomyolysis'. Uma uhlangabezana nalezi zimpawu, bona udokotela ngokushesha.

Nakuba kungekho ikhambi eliqondile lalokhu, kungaphathwa kahle ngokuzivocavoca nokudla okufanele futhi ungaphila impilo evamile.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho.

Khumbula, awuwedwa. Ngolwazi olufanele kanye nokusekelwa, ungabhekana nalesi simo.

Isifo sikaMcArdle , i-GSD5, Isifo sikaMcArdle, Ubuhlungu Bemisipha, Ukuzivocavoca, Isifo Sofuzo, i-Glycogen, i-Myophosphorylase, i-Rhabdomyolysis, Ukungabekezeleli Ukuzivocavoca