Yu pikin in mɔsul dɛn stif ɛn i nɔ kin izi fɔ opin in an? Mek wi lan bɔt (Myotonia Congenita)!

Yu dɔn ɛva notis se sɔntɛnde we yu smɔl pikin ol tɔys tayt, i kin tek sɔm tɛm fɔ lɛ i go bak? Ɔ i kin tan lɛk se dɛn stif wantɛm wantɛm we dɛn de rɔn rawnd de ple? Na nɔmal tin fɔ mek mama ɔ papa fred smɔl we dɛn si tin dɛn lɛk dis. Tide wi go tɔk bɔt wan sik wae kin kam wit dɛn kayn sik ya, bɔt nɔr kin bɔrku.

Wetin na Myotonia Congenita?

Fɔ tɔk am simpul wan, Myotonia Congenita na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Insay dis kɔndishɔn, wi mɔsul dɛn nɔ kin ebul fɔ rilaks kwik afta dɛn dɔn kɔntrakt. Imajin se yu pikin ol wan tɔys bɔl tayt tayt wan na in an. Nɔmal wan, we yu tɛl am fɔ lɛf am, i go lɛf am wantɛm wantɛm. Bɔt i nɔ kin izi fɔ pikin we gɛt dis sik fɔ lɛf am wan tɛm. Di an kin fil stiff fɔ sɔm tɛm.

Dis sik kin bigin we dɛn smɔl ɔ we dɛn yɔŋ . Apat frɔm we di mɔsul dɛn kin stif, ɔda sayn dɛn kin apin bak, lɛk di mɔsul dɛn we de mek di mɔsul dɛn gɛt bɔku bɔku wata, we na di we aw di mɔsul dɛn kin tan lɛk.

dכkta dεn kin klas dis as `non-dystrophic myotonia disorder.` Dat min se nכ big damej de pan di strכkchכ fכ yu pikin in mכsul dεm. Dɛn gɛt wɛlbɔdi. Bɔt smɔl prɔblɛm de wit di ilɛktrik we de kɔntrol di kɔntrakshɔn na di mɔsul dɛn. כda sik dεm de we de apin wit myotonia, we dεn kכl `dystrophic myotonias.` insay dεn sik dεm ya, di strכkchכ fכ di mכsul dεm de afekt bak.

Na nɔmal tin fɔ fil wɔri ɛn fred we wi si chenj na wi pikin in bɔdi. Bɔt wetin yu fɔ no na dat, dis sik we dɛn kɔl myotonia congenita , nɔ kin wɔs as tɛm de go . Wit fizik tritmɛnt ɛn ɔda tritmɛnt dɛm, dɛn kin ebul fɔ kɔntrol dɛn sik ya fayn fayn wan.

Wetin na di men kayn Myotonia Congenita?

Tu men kayn dis sik de, lɛ wi si wetin dɛn bi.

1. Beka sik

Dis na di kayn mכst kכmכn tכp fכ myotonia congenita. I kin mek di pikin in an ɛn leg in mɔsul dɛn wik. Di sayn dɛm fɔ Bɛka sik kin apin bitwin 4 ɛn 12. Bɔt dis difrɛn frɔm Bɛkɛr mɔsul distrofi, so nɔr kɔnfyus am wit Bɛka mɔsul distrofi.

2. Di sik we dɛn kɔl Thomsen

Dis na wan we we nɔ kin apin so ɔltɛm ɛn we nɔ kin izi fɔ mek pɔsin gɛt myotonia congenita. di sayn dεm kin bigin insay di fכs mכnt dεm na layf εn kin te 2-3 ia .

Aw kɔmɔn tin na Myotonia Congenita?

Dis na rili tin we nɔ kin apin so ɔltɛm.. Dis sik kin ambɔg lɛk wan pan ɔl wan ɔndrɛd tawzin pipul dɛn. Bɔt dɛn kin si dis sik mɔ pan pipul dɛn na Skandinevia kɔntri dɛn lɛk Finland, Nɔwe, ɛn Swidan. Insay dɛn kɔntri dɛn de, dɛn kin ripɔt se na lɛk wan pan ɛvri tɛn tawzin pipul dɛn gɛt dis sik.

Wetin na di sayn dɛm fɔ Myotonia Congenita?

di men tin we de sho dis sik na dat di mכsul kin slo fכ rilaks afta i dכn kכntrakt . Dis na wetin wi kin kɔl myotonia. Dis myotonia kɔndishɔn kin wɔs we yu bigin fɔ wok afta yu dɔn rɛst ɔr na say we kol.

Ɔda sayn dɛn we yu pikin kin gɛt na:

• difεlεns fכ it, chok, nכs, εn rεfluks – spεshal wan we i bεlε. Fɔ ɛgzampul, sɔm pikin dɛn kin fil lɛk se dɛn de gɛt bɔku it na dɛn trot ivin afta dɛn dɔn drink smɔl milk.
• Fɔ fɔdɔm ɔltɛm ɛn nɔr de balans (klɔmsi) – Yu kin si dis ivin afta yu bigin fɔ waka ɛn yu dɔn yus to am fayn fayn wan.
• Dabl vishɔn ɔ les yay.
• Di mɔsul dɛn kin big (hypertrophy) , we kin mek yu tan lɛk atlet.
• Mɔsul dɛn we de kramp.
• di mכsul dεm stiff , εspεshali na di pikin in leg dεm. Bɔt dis stiffnɛs kin go dɔŋ we di bɔdi de muv ɛn we di bɔdi wam. Dɛn kɔl dis di ‘wɔm-ap fenomen’ .
• Wiknɛs , mɔ if yu pikin gɛt Bɛka sik.
• Skoliosis na wan abnכmal kכva na di spayna.

Man pikin dɛn kin gɛt dis sik bad bad wan pas uman pikin dɛn. Di sayn dɛm kin wɔs bak fɔ sɔm tɛm we uman gɛt bɛlɛ ɛn we i de gɛt mɔnt.

Di sayn dɛm fɔ Thomsen sik kin bigin kwik ɛn fɔs kin afɛkt di pikin in fes ɛn an . Bɔrku tɛm di sayn dɛm fɔ Bɛka sik kin bigin leta ɛn fɔs kin afɛkt di leg dɛm .

Wetin kin mek pɔsin gɛt Myotonia Congenita?

Myotonia Congenita de kכz bay wan mכtεshכn na di jin CLCN1 . dis jin de afekt di klorayd chanεl dεm na di mכsul mεmbran na wi mכsul dεm. Dis na di rizin we mek di mɔsul dɛn kin gɛt prɔblɛm fɔ rilaks afta dɛn dɔn kɔntrakt.

Bεka sik (BD) de inhεrit insay wan כtosom rεsεsiv patεn . Dis min se di pikin in mama ɛn papa ɔl tu fɔ kɛr di jin muteshon, ɛn dɛn ɔl tu fɔ pas am to di pikin. Bɔt, dɛn mama ɛn papa dɛn de nɔ kin sho sɔm sayn dɛn. Dɛn jɔs de kɛr di jin.

Wetin na di sik we dɛn kɔl Thomsen (TD)?Wan ɔtosɔmal dominant kɔndishɔn. If na so i bi, ivin if na wan mama ɔ papa nɔmɔ gɛt di jin we de chenj, di pikin kin gɛt am.

Aw dɛn kin no se pɔsin gɛt Myotonia Congenita?

Bɔku tɛm, dɔktɔ dɛn kin no dis sik we dɛn smɔl. Yu dɔktɔ go aks yu pikin in sik ɛn yu famili in mɛdikal histri. Dɔn dɛn go du sɔm tɛst fɔ chɛk if prɔblɛm de wit di gam. Dɛn tin ya kin bi:

• Fɔ tɛl di pikin fɔ opin ɛn lɔk in yay kwik kwik wan .
• Fɔ si if di pikin kin ol sɔntin na dɛn an ɛn lɛf am kwik kwik wan, ɔ if dɛn kin opin dɛn an kwik kwik wan bay we dɛn swɛt am .
• Tap di pikin in bɔdi jisnɔ wit smɔl hama (percussor) fɔ si if i at.

Yu dɔktɔ kin tɛl yu bak fɔ du sɔm ɔda tɛst fɔ no if yu gɛt di sik ɔ fɔ no ɔda tin dɛn we kin mek yu gɛt di sem kayn sik. Dɛn tɛst ya na:

• Creatine Kinase (CK) bכdi tεst: di CK lεvεl kin εlevεt insay myotonia congenita.
• Elektromayografi (EMG): Dis tεst de mכsu di ilektrikal impuls dεm we de kכmכt na di mכsul dεm. Dis kin ɛp fɔ no difrɛns bitwin di prɔblɛm dɛn we gɛt fɔ du wit di mɔsul ɛn di prɔblɛm dɛn we gɛt fɔ du wit di nerv. כltu, i at fכ no di difrεns bitwin di tu tכp dεm fכ myotonia congenita bays pan EMG risכlt.
• jεnεtik tεst: Dis de luk fכ jεnεtik chenj dεm we de mek myotonia congenita.
• di mכsul bayopsi: Bayopsi we dεn du na myotonia congenita kin luk nכmal, bכt sכmtεm dεn kin si sכm sכm abnכmal tin dεm.

Wetin na di tritmɛnt fɔ Myotonia Congenita?

No mɛrɛsin nɔ de fɔ dis sik. Sɔntɛm yu pikin nɔ go nid ɛni spɛshal tritmɛnt. Rɛst ɛn ɛksesaiz layt kin ɛp fɔ mek di mɔsul dɛn nɔ stif. Yu dɔktɔ kin tɛl yu bak se yu fɔ trit yu bɔdi fayn fɔ ɛp yu fɔ mek yu mɔsul dɛn kɔntinyu fɔ wok.

Sɔntɛnde, yu pikin kin bɛnifit if i tek mɛrɛsin. Yu dɔktɔ kin gi yu mɛrɛsin lɛk mɛksilɛtin ɔ ranolazine fɔ mek yu nɔ gɛt bɔku sik ɛn fɔ mek yu nɔ gɛt bɛtɛ sik. Ɔda mɛrɛsin dɛn lɛk lamotrigine ɛn carbamazepine kin ɛp bak, bɔt sɔntɛnde dɛn kin mek yu gɛt sayd ɛfɛkt we nɔ fayn.

Na sɔm ɔda tin dɛm we yu, yu pikin, ɛn yu famili kin du fɔ mɛn di myotonia congenita simptom dɛm ɛn avɔyd di trig dɛm:

• Fɔ de fa frɔm say dɛn we kol.
• Fɔ du tin dɛn we yu de du ɔltɛm– di simptom dεm kin dכn we di pikin in fכs wam sכmtεm (dεn kכl dis di ‘warm-up phenomenon’).
• Fɔ kɔntrol di strɛs.
• If nid de, chenj di it we yu de it ; dis min se yu fɔ gi di pikin it dɛn we izi fɔ swɛla fɔ mek i nɔ chok. Fɔ ɛgzampul, if i nɔ izi fɔ dɛn fɔ it tin dɛn we at fɔ it, dɛn kin krɔs am ɛn sof.

Yu tink se dɛn kin ebul fɔ mek dɛn nɔ gɛt Myotonia Congenita?

Myotonia Congenita na bikɔs ɔf wan jenɛtik mutation, so natin nɔ de we yu go du fɔ mek i nɔ apin . If pɔsin na yu famili gɛt dis sik, ɔ if yusɛf gɛt am ɛn yu de plan fɔ bɔn pikin, i go fayn fɔ go to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɔn i kin tich yu bɔt di risk fɔ pas di kɔndishɔn to yu pikin dɛn.

Wetin na di fiuja fɔ pɔsin we gɛt Myotonia Congenita? (Prɔgnosis) .

Myotonia Congenita nɔ kin wɔs as tɛm de go . Di sayn dɛm wae yu pikin kin gɛt go stil de di sem ɔlsay na in layf. Fyzikal tritmɛnt ɛn fɔ avɔyd tin dɛm wae de mek di sik wɔs kin ɛp yu pikin fɔ de aktif ɛn kɔntinyu fɔ du nɔrmal tin dɛm. Pipul wae gɛt myotonia congenita kin tek pat pan spɔt ɛn liv nɔrmal layf. Insay Bɛka sik, pikin kin gɛt sɔm wikɛd tin dɛn we i de ol.

Wetin na di layf we pɔsin we gɛt Myotonia Congenita kin liv?

Pipul dɛn we gɛt Myotonia Congenita kin gɛt nɔmal layf . Di kɔndishɔn nɔ de afɛkt ɔda bɔdi sistɛm dɛn.

Ustɛm mi pikin fɔ go to dɔktɔ?

Myotonia Congenita na wan sik we kin de fɔ lɔng tɛm . Pan ɔl we i nɔ kin wɔs ɔ chenj, yu pikin go nid fɔ go to in dɔktɔ ɔltɛm if i de tek mɛrɛsin fɔ am. Di nid fɔ gɛt fizik tritmɛnt kin chenj as yu pikin de gro.

Impɔtant tin na dat, myotonia congenita kin afɛkt di we aw yu pikin de du tin we dɛn tek anestezi . So, if dɛn dɔn arenj fɔ mek dɛn du ɔpreshɔn pan yu pikin, yu fɔ tɛl yu dɔktɔ bɔt dat. Yu fɔ tɛl di dɔktɔ we de mɛn yu pikin bak we go de kia fɔ yu pikin we dɛn de du di ɔpreshɔn.

"Na nɔmal tin fɔ fil big big shɔk we yu pikin in mɔsul dɛn nɔ de wok fayn. Yu kin wɔri bɔt aw dis go wɔs, ɛn aw i go afɛkt yu pikin in layf ɛn yu famili in layf. Bɔt di gud nyus na dat, dɛn kin manej myotonia congenita fayn fayn wan wit fizik tɛrapi ɛn smɔl chenj dɛn we yu kin mek na os ɛn na yu ɛvride layf. Mɛmba se yu dɔktɔ de ɔltɛm fɔ ɛp yu wit di tin dɛn we de mɔna yu ɛn." ansa ɛni kwɛstyɔn we yu gɛt."

Di impɔtant tin dɛn we wi nid fɔ mɛmba frɔm dis stori (Take-Home Message) .

Okay, so lɛ wi luk sɔm simpul tin dɛm fɔ mɛmba bɔt di myotonia congenita we wi bin tɔk bɔt:

• Dis na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks . Di men tin na dat, we di mɔsul dɛn dɔn kɔntrakt, i nɔ kin izi fɔ dɛn fɔ rilaks kwik kwik wan.
• Tu kayn Bɛka sik de : Bɛka sik ɛn Tɔmɔs sik.
• Bɔku tɛm dis nɔ kin wɔs as tɛm de go .
• Pan ɔl we no patikyula mɛrɛsin nɔ de, dɛn kin ebul fɔ kɔntrol di sayn dɛn fayn fayn wan wit fizik tritmɛnt, sɔm mɛrɛsin dɛn, ɛn chenj dɛn layf .
• Di pikin kin liv nɔmal layf ɛn ple spɔt .
• If yu pikin nid ɔpreshɔn, yu nid fɔ tek tɛm mɔ bɔt anestezi .
• Nɔ fred fɔ aks bɔt dis. Tɔk to yu dɔktɔ ɛn gɛt di advays ɛn sɔpɔt we yu nid . Mɛmba se nɔto yu wangren de.

` Myotonia Congenita, Myotonia Congenita, Jɛnɛtik Sik, Mɔsul Stiffnɛs, Pikin Sik, Becker’s Disease, Thomson’s Disease