Yu kin gɛt pen na yu mɔsul dɛn ivin afta yu dɔn ɛksesaiz smɔl? Dis kin bi McArdle Disease!

Sɔntɛnde yusɛf kin fil bad ɛn wik we yu de du ɛksɛsayz ɔ du sɔntin we yu nid fɔ tray smɔl, nɔto so? Dat na nɔmal tin. Bɔt fɔ sɔm pipul dɛn, dis sik kin tumɔs smɔl. Ivin we yu du smɔl tin, dat kin mek yu taya kwik, ɛn yu mɔsul dɛn kin at ɛn tayt. Tide wi go tɔk bɔt wan rare bɔt rili impɔtant kɔndishɔn fɔ no bɔt. dis dεn kכl am McArdle in sik, כ `glycogen storage disease type 5 (GSD5)`.

Wetin na di sik we dɛn kɔl McArdle Disease?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl McArdle na wan sik we de kɔmɔt na wi famili . I kin afɛkt yu skel mɔsul dɛn mɔ . Dat min se di mɔsul dɛn we wi de yuz fɔ muv rawnd, es tin dɛn ɔp, ɛn waka.

dis sik de k כz fכ wan spεshal εnzym we de na wi mכsul dεm we dεn kכl `mכsul glycogen phosphorylase` כ `myophosphorylase`. We dis ɛnzaym nɔ de igen, wi mɔsul dɛn nɔ kin ebul fɔ mek di ɛnaji we wi nid. Na dat mek sayn dɛn lɛk pen na di mɔsul dɛn, stiff, ɛn taya kin apin we wi de du ɛksɛsayz ɔ we wi taya.

Di sayn dɛm kin bigin fɔ sho afta yu dɔn ol 15-20 ia, ɔr na di 20 ɔ 30 ia . Bɔt sɔntɛnde, i kin apin pan ɛni ej. Dɛn gi di sik in nem "McArdle" afta Dɔkta Brian McArdle, we bin ripɔt am fɔ di fɔstɛm insay 1951.

Aw dis sik kin bɔku?

McArdle sik na rili wan sik we nɔ kin apin so ɔltɛm . Di wan dɛn we de stɔdi bɔt dis tɔk se i kin ambɔg bitwin wan pan ɛvri 50,000 pipul dɛn ɛn wan pan ɛvri 200,000 pipul dɛn na Amɛrika.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik?

De sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul kin gɛt sɔm kayn sik wae nɔr kin pasmak, wae ɔda pipul dɛn kin gɛt dis sik pasmak.

Di men ɛn kɔmɔn sayn na we yu nɔ de du ɛksɛsayz, we min se yu de fil taya kwik kwik wan we yu de du bɔdi wok . Ɔda sayn dɛn we de sho se yu gɛt dis sik na:

• Mɔsul dɛn we kin kramp
• Wik
• Taya
• Mɔsul dɛn kin pen
• Di mɔsul dɛn we de stif

Ɔl dɛn sayn ya kin apin jɔs lɛk aw yu bigin fɔ du ɛksɛsayz. Bɔt bɔku tɛm dɛn kin stɔp afta dɛn dɔn rɛst fɔ shɔt tɛm . I sɔprayz fɔ no se sɔm pipul dɛn kin si se afta dɛn dɔn fil taya fɔs, if dɛn rɛst fɔ shɔt tɛm ɛn du di sem ɛksesaiz bak, dɛn kin du am bɛtɛ pas aw dɛn bin de du am bifo. Dɛn kɔl dis "sɛkɔn briz." I tan lɛk se yu gɛt sɛkɔn briz. We yu nɔ de du ɛksɛsayz, bɔku tɛm yu nɔ kin fil ɛni sayn.

Yu kin ebul fɔ du layt, saful ɛksesaiz, lɛk fɔ waka na lɛvul grɔn, ɛn yu nɔ go gɛt ɛni prɔblɛm. Bɔt if yu de du bɔku bɔku bɔdi , dat kin mek yu gɛt sayn dɛn kwik kwik wan. Na mɔ, ɛksesaiz dɛn we gɛt fɔ du wit fɔ ol di mɔsul dɛn na dɛn ples we yu nɔ de muv, lɛk isometric exercise , fɔ skwatin, ɛn fɔ tinap pan yu fut finga dɛn, kin pwɛl di mɔsul dɛn. Tink bɔt aw yu nɔ kin fil fayn we yu de es gas silinda ɔ yu de kɛr ebi bag.

Dis kin mek wi gɛt siriɔs prɔblɛm? (Kɔmplikeshɔn dɛn) .

Yɛs, sɔntɛnde, siriɔs prɔblɛm dɛn kin apin. Na lɛk af pan pipul dɛm wae gɛt McArdle sik kin gɛt wan sik wae dɛn kɔl `rhabdomyolysis` afta dɛn dɔn du ɛksɛsayz pasmak . Dis na we di mɔsul dɛn kin brok.

Rhabdomyolysis na siriɔs tin we kin mek pɔsin in layf de pan denja we kin mek di kidni nɔ wok wantɛm wantɛm (acute kidney failure) ɛn di potassium we de na di blɔd kin gɛt bɔku bɔku denja (hyperkalemia).

So, yu nid fɔ rili tek tɛm wit aw yu de du ɛksasaiz ɛn aw yu de du am tranga wan. Dis go ɛp fɔ mek dɛn nɔ gɛt di kɔndishɔn `rhabdomyolysis`. If yu gɛt ɛni sayn lɛk we yu mɔsul dɛn de swel, yu urine dak (brawn, rɛd, ti kɔlɔ) , yu fɔ go to dɔktɔ wantɛm wantɛm .

Wetin mek dis de apin? Wetin na di rizin dɛn we mek dɛn de du dis?

McArdle sik na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . spεshal wan, i de kכz bay mכtεshכn dεm na di jin `PYGM`. nכmal wan, dis `PYGM` jin de instrכkt wi bכdi fכ mek wan εnzym we dεn kכl `myophosphorylase`.

dis εnzym de כnli insay wi skel mכsul sεl dεm. i de brok dכn glycogen (shuga we dεn stכr) insay di mכsul dεm to glukכs-1-fכsfεt. afta dat dis glukכs-1-fכsfεt de kכnvכlt mכr to glukכs. Glukɔs na di men tin we wi bɔdi de gi wi trɛnk . We wi de du ɛksɛsayz, wi mɔsul dɛn de yuz bɔku pan dis glukɔs.

naw, we di `myophosphorylase` enzym de prodyuz sכm כ nכ de prodyuz atכl bikoz fכ chenj dεm na di `PYGM` jin, wi mכsul sεl dεm nכ de ebul fכ brok dכn `glycogen` fayn fayn wan εn prodyuz enεji (`glucose`). Na dat mek di mɔsul dɛn kin taya kwik kwik wan.

rεsכch dεm dεn te naw dεn no 179 difrεn vεryushכn dεm (vεryushכn dεm) we de afekt di `PYGM` jin.

Aw dɛn kin gɛt di sik we dɛn kɔl McArdle

yu kin gεt di sik frכm yu bayolojikal mama εn papa, insay wan ``autosomal recessive`` patεn . fכ sכmtεm, dεn tu mama εn papa fכ bi ``kכriכg`` fכ di כltεr jin, we min se dεn tu gεt di jin nia.Bɔrku tɛm, di wan dɛm wae gɛt dis sik nɔr kin sho di sayn dɛm. Bɔt if di mama ɛn papa ɔl tu gɛt di sik ɛn dɛn ɔl tu pas di jin we dɔn chenj to dɛn pikin dɛn, di sik go bigin.

Aw dɔktɔ dɛn kin no bɔt dis? (Diagnosis) .

Dɔktɔ dɛn kin yuz mɔ fɔ du ɛksɛsayz tɛst fɔ no if yu gɛt dis sik. Dis min se yu fɔ tek blɔd sɛmpul bifo ɛn afta yu dɔn du smɔl ɛksesaiz wit yu fɔs an. spεshal wan, dεn de luk di lεvεl dεm fכ `laktik asid` εn `ammonia` .

Nɔmal wan, di laktik asid lɛvɛl fɔ go ɔp lɛk tri tɛm afta yu dɔn du ɛksɛsayz. Bɔt if yu laktik asid lɛvɛl nɔ go ɔp pan dis tɛst, na sayn fɔ se yu kin gɛt di sik we dɛn kɔl McArdle.

Ɔda tɛst dɛn de wae kin ɛp fɔ no dis sik:

• Kriatin kinaz (CK) blɔd tɛst: We di mɔsul dɛn pwɛl, wan ɛnzaym we dɛn kɔl kriaytin kinaz (CK) kin gɛda na di blɔd. Pipul wae gɛt dis sik kin gɛt ay levul fɔ CK ɔltɛm.
• Gred εksεsayz strεs tεst: Dis kin tεst fכ di fεnomen we dεn kכl "sεkכn briz." Di dɔktɔ go mek yu du sɔm rawnd dɛn fɔ ɛksesaiz, rɛst bitwin dɛn, ɛn si if yu go ebul fɔ du di ɛksesaiz fayn fayn wan afta di ɔda wan dɛn.
• Muscle biopsy: Insay dis tɛst, dɔktɔ kin tek smɔl sampul pan yu skel mɔsul ɛn sɛn am na lab fɔ mek dɛn luk am ɔnda maykroskɔp. Wan dɔktɔ we de mɛn di sik kin luk di tisu fɔ si if ɛni sayn de fɔ sho se pɔsin gɛt McArdle sik.
• Jεnεtik tεst: Dis kin ebul fכ no di spεsifi k jεnεtik mכtεshכn we de mek di sik we dεn kכl McArdle.

Wetin wi go du bɔt dis? (Tritmɛnt)

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl McArdle. De men tritmɛnt na fɔ avɔyd fɔ du tin wae de mek yu sik wɔs. Bɔt if yu nɔ du ɛni bɔdi atɔl, dat nɔ go fayn fɔ yu wɛlbɔdi bak.

Risach dɔn sho se mɔdaret-intɛnsity, gred aerobic ɛksɛsayz tɛrapi kin bɛnifit fɔ pipul dɛm wae gɛt McArdle sik. Pipul dεm we de du dis kayn εksεsayz dεn dכn rεdכks bכku bכku wan fכ εksεsayz, εn dεn kin εkspiriεns da "sεkכn briz" de bak kwik kwik wan we dεn de du εksεsayz. Yu kin woke wit yu dɔktɔ ɛn pɔrsin wae de mɛn yu bɔdi fɔ fɛn di bɛst ɛksɛsayz tritmɛnt plan fɔ yu.

Dɔn bak, it we gɛt bɔku tin dɛn we gɛt kabɔhaydrɛtStɔdi dɔn sho se if pɔsin tek am, i kin mek bak di sik dɛn we kin apin we pɔsin de du ɛksɛsayz. Dis kin ɛp yu mɔsul dɛn fɔ yuz glukɔs (shuga) na yu blɔd instead ɔf glycogen fɔ gɛt ɛnaji. Yu dɔktɔ ɔ pɔsin we sabi bɔt it we dɛn dɔn rɛjista kin tɛl yu fɔ mek yu it plan lɛk dis:

• 65% pan yu de kalori fɔ kɔmɔt frɔm kɔmpleks kabɔhaydrɛt (frɔm tin dɛn lɛk vɛjitebul, frut, bred, pasta, ɛn rays).
• 20% pan di kalori dɛn we de kɔmɔt frɔm fat .
• 15% pan di kalori dɛn we de kɔmɔt frɔm di prɔtin .

I kin fayn bak fɔ drink wan simpul shuga, lɛk spɔt drink we gɛt shuga, jɔs bifo yu du ɛksɛsayz.

Aw i bi fɔ liv wit dis?

Bɔrku pipul dɛm wae gɛt McArdle sik de liv nɔrmal layf . Sɔm pipul kin gɛt wikɛdnɛs ɔltɛm ɛn mɔsul dɛn kin west (`atrophy`) leta na dɛn layf, bɔku tɛm na dɛn 60 ɔ 70 ia.

Di tin we impɔtant pas ɔl na fɔ no di sayn dɛm fɔ di `rhabdomyolysis` kɔndishɔn we wi bin dɔn tɔk bɔt ɛn fɔ mek i nɔ apin as i pɔsibul, bikɔs na di men kɔmplikeshɔn fɔ dis sik.

Wetin na de layf fɔ pɔrsin wae gɛt dis sik?

Bɔku tɛm, di sik we dɛn kɔl McArdle nɔ kin afɛkt di layf we pɔsin de liv .

כltu, sכm tεm, wan kכndyushכn de we dεn kכl `infantile McArdle syndrome` , we de apin kכlכsכl wan afta dεn bכn am. Dis kin kil pɔsin – de sik kin tranga ɛn kin wɔs kwik kwik wan.

Yu tink se dɛn go ebul fɔ avɔyd di sik we dɛn kɔl McArdle?

Bikɔs dis na tin we pɔsin kin gɛt frɔm in bɔdi, natin nɔ de we wi go du fɔ mek i nɔ apin .

If yu de wɔri bɔt yu risk fɔ gɛt McArdle sik ɔ ɔda jenɛtik disɔda bifo yu bɔn pikin, i go fayn fɔ tɔk to yu dɔktɔ bɔt jenɛtik advays .

Ustɛm a fɔ go to dɔktɔ?

If yu sik de wɔs, ɔr if yu ebul fɔ du yu bɔdi wok we yu kin du ɔltɛm chenj, go to yu dɔktɔ.

Yu kin nid bak fɔ go to dɔktɔ we de mɛn yu bɔdi ɛn/ɔ pɔsin we sabi bɔt it ɔltɛm fɔ mek dɛn go gayd yu bɔt yu tritmɛnt plan.

Ustɛm yu fɔ go na Imejɛnsi Tritmɛnt Yunit (ETU) ?

If yu gɛt sayn dɛm fɔ `rhabdomyolysis`, yu fɔ go na imejensi rum (ETU) kwik kwik wan . Di sayn dɛm na:

• Di mɔsul dɛn we de swel
• Di mɔsul dɛn we wik
• Sɔri ɛn pen we yu tɔch di mɔsul dɛn
• Dak urine (brawn, rɛd, ti kɔlɔ) .
• Di wata we nɔ de na di bɔdi
• Di we aw yu de pis nɔ de bɔku
• Vɔmit
• Lɔs fɔ no bɔt sɔntin

Di sik we dɛn kɔl McArdle kin mek i nɔ izi fɔ du sɔm tin dɛn we pɔsin kin du wit in bɔdi. Bɔt di gud nyus na, .I kin ebul fɔ manej am ɛn i nɔ kin gɛt big impak pan yu ɔl yu wɛlbɔdi. Yu dɔktɔ go wok wit yu fɔ fɛn di bɛst tritmɛnt plan fɔ yu.

Mɛsej we dɛn kin kɛr go na os

Okay, so lɛ wi mɛmba yu bɔt sɔm tin dɛn we wi dɔn tɔk bɔt we wi tink se impɔtant to yu:

McArdle sik na wan jεnεtik kכndyushכn we de kכz we wan εnzym we de εp di mכsul dεm fכ mek εnεji.

Di men sayn dɛm na fɔ taya kwik, fɔ gɛt pen na yu mɔsul dɛm, ɛn fɔ rɔl ɔp we yu de du ɛksɛsayz.

Yu fɔ no bɔt di siriɔs kɔmplikeshɔn we dɛn kɔl `rhabdomyolysis`. If yu gɛt dɛn sik ya, go to dɔktɔ wantɛm wantɛm.

Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis, dɛn kin ebul fɔ mɛn am fayn ɛn dɛn kin liv nɔmal layf wit di rayt ɛksɛsayz ɛn it.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu dɔktɔ.

Mɛmba se nɔto yu wangren de. If yu no di rayt tin ɛn sɔpɔt yu, yu go ebul fɔ bia wit dis prɔblɛm.

` McArdle Disease, GSD5, McArdle Disease, Mכsul Pen, Eksεsayz, Jεnεtik Disiz, Glycogen, Myophosphorylase, Rhabdomyolysis, Eksεsayz Intolerans