I nɔ kin izi fɔ yu bak fɔ waka ɔ du tin? Yu fil se yu de lɔs yu balans? Wi go tɔk bɔt dis (Spinocerebellar Ataxia)?

Sɔntɛnde yu kin fil lɛk se yu leg dɛn de tandul we yu de waka? Ɔ yu kin fil lɛk se yu nɔ ebul fɔ ivin ol kɔp na yu an fayn? Sɔntɛm yu kin ivin gɛt slɔp wɔd dɛn we yu de tɔk. If dɛn tin ya nɔ jɔs apin wan ɔ tu tɛm, bɔt bɔku tɛm wan tɛm, nɔto sɔntin we wi fɔ ignore. Tide wi go tɔk bɔt wan pɔsibul kɔz fɔ dis, we na wan kɔndishɔn we dɛn kɔl `Spinocerebellar Ataxia` (wi go kɔl am `SCA`).

Wetin na `Spinosɛribɛl Ataksia (SCA)`? Lɛ wi ɔndastand am simpul wan.

Fɔ tɔk am simpul wan, ataxia na wan tin we kin mek yu nɔ ebul fɔ du tin dɛn we yu bɔdi de muv fayn fayn wan smɔl smɔl . Na sɔmtin wae kin afɛkt yu nervɔs sistɛm ɛn kin wɔs as tɛm de go. Imajin se yu nɔ ebul fɔ muv yu an ɛn fut, waka, ɔ ol sɔntin igen. Bɔrku kayn ataxia de, ɛvri wan gɛt in yon kɔz ɛn sayn dɛm.

Spinocerebellar Ataxia (SCA) na ɔda kayn ataxia, ɛn na wan jɛnɛtik kɔndishɔn . I kin afɛkt yu sɛribɛl mɔ . di sεribra na wan pat we rili impɔtant na yu bren. I de kɔntrol tin dɛn lɛk aw yu de waka, aw yu de ol, ɛn aw yu de balans. Sɔntɛnde, SCA kin afɛkt yu spɛshal kɔd bak .

Bikɔs dis na tin we pɔsin kin gɛt frɔm in mama ɛn papa, de sik kin bɔku smɔl smɔl as tɛm de go. Yu nɔ go si big difrɛns wantɛm wantɛm. Dis kin afɛkt yu mɔ:

• Fɔ di wok we di yay dɛn de du.
• Fɔ an wok (fɔ ɛgzampul, fɔ rayt, ol kɔp, it).
• di lכs fכ di leg fכ wok εn di abiliti fכ waka (lכs fכ bεlε).
• Di we aw yu de tɔk (di wɔd dɛn kin tandul).

Wetin dɛn kin tɔk kin afɛkt mɔ.

Aw many kayn `SCA` de?

Naw, dɔktɔ ɛn sayɛnsman dɛn dɔn no pas 40 kayn SCA. I go mɔs bi se dis nɔmba go bɔku tumara bambay, as dɛn de du risach. Dɔktɔ dɛn kin kɔl dɛn kayn SCA ya bay nɔmba. Fɔ ɛgzampul, Spinocerebellar Ataxia tayp 1, tayp 2, ɛn ɔda tin dɛn.

Di tin dɛm wae kin mek pɔrsin gɛt ɔl dɛn kayn SCA ya kin fiba bɔrku wan. So yu go de wɔnda wetin mek dɛn gɛt nɔmba dɛn. di nכmba dεm dεn gi insay di כda we dεn dכn fכ no di jεnεtik chenj dεm we de asai fכ εvri SCA tכp. fכ simpul wan, SCA1 na di fכs tכp we dεn dכn fכ no εn lεnk to wan kromozom prכblεm we de pas dכn tru jεnereshכn dεm. SCA2 na di sɛkɔn kayn we dɛn dɔn fɛn. Na so dɛn gi dɛn nem.

di kayn SCA we kכmכn pas כl na di Spinocerebellar Ataxia tayp 3 (SCA tayp 3) . Dɛn kin kɔl am bak di sik we dɛn kɔl Machado-Joseph disease .

So, aw kɔmɔn dis `SCA`?

Fɔ tru, dis kɔndishɔn we dɛn kɔl `SCA` nɔ kin bɔku.. Dat min se nɔto sik we de ambɔg ɔlman. Akɔdin to sɔm statystik, dis sik kin apun pan lɛk wan (1) pan ɛvri ɔndrɛd tawzin pipul dɛm, ɔr pas fayv (5) pipul dɛm. So, i nɔmal fɔ lɛ wi nɔ yɛri bɔt am bɔku tɛm.

Wetin mek wi de gɛt dis `SCA`? Wetin na di kɔz?

Di men tin we kin mek SCA na wan jenɛtik muteshɔn . Dis min se wan prɔblɛm de na di jin dɛn we yu gɛt frɔm yu mama ɛn papa. εkspεrt dεn dכn lεnk dεn spεsifi k jin dεfεkt ya to plεnti tכp dεm fכ SCA. כltu, nכto כl di tכp dεm fכ SCA de kכz fכ di sem jin mכtεshכn, bכt na di vεryushכn insay difrεn jin dεm.

Sɔm kayn SCA kin kam bikɔs wan patikyula pat pan yu DNA (di pat we de kip wi jɛnɛtik infɔmeshɔn) kin ripit bɔku tɛm we nɔrmal. dis dεn kכl am trinyukliotayd rεpεt εkspεns insay mεdikal tεm dεm. I kɔmplikt smɔl, bɔt fɔ tɔk am simpul wan, i tan lɛk se dɛn kɔpi wan patikyula pat pan wan jin tumɔs tɛm.

Tu men we dɛn de we dɛn kin gɛt dis `SCA` kɔndishɔn:

1. Ɔtosɔmal Dɔminant Inhɛritɛns: .

• Dis na aw dɛn kin gɛt SCA bɔku tɛm.
• Wetin kin apin pan dis kes na dat ivin if yu gɛt dis mutated gene frɔm wan mama ɔ papa nɔmɔ , yu mama ɔ yu papa, yu kin stil gɛt dis sik.
• dis min se if pכsin we gεt `SCA` gεt pikin, 50% chans de fכ se da pikin de go gεt dis mכtayt jin. Tink bɔt am lɛk di chans we kɔyn go land ed. Dis chans na di sem fɔ ɛvri pikin.

2. Ɔtosɔmal Rɛsɛsiv Inhɛritɛns: .

• Sɔm kayn `SCA` dɛn de bak we dɛn kin gɛt dis we, bɔt dɛn nɔ kin bɔku smɔl.
• If na so i bi, fɔ mek pɔsin gɛt dis sik, i fɔ gɛt dis abnɔmal jin frɔm in mama ɛn papa.
• Bɔrku tɛm, dɛn mama ɛn papa ya nɔr kin sho sɔm sayn dɛm. Dɛn kin jɔs bi pipul dɛn we gɛt di jin. Na wan kɔpi nɔmɔ dɛn gɛt fɔ di jin we nɔ fayn, so dɛn nɔ kin gɛt di sik.

Wetin na di sayn dɛm fɔ SCA?

Di sayn dɛm fɔ SCA kin bigin fɔ sho afta i dɔn ol 18. Bɔt sɔm kayn SCA kin bigin bifo tɛm, ɛn sɔm kin bigin leta. Nɔto tin wae kin kam wantɛm wantɛm, bɔt smɔl smɔl, fɔ sɔm ia, de sik kin kam tranga pasmak.

Imajin, we yu go mek ti ɛn ol di ketul, yu an de shek ɛn di ti lif dɛn de fɔdɔm, ɔ we yu de waka na strit, yu jɔs slip na di sayd ɛn fɔdɔm. I kin rili at we yu de go ɔp ɛn dɔŋ stej. If dɛn tin ya kin apin bɔku tɛm, i impɔtant fɔ tek kia ɔf am.

Di sayn dɛm wae kin kam pan SCA na:

• Di we aw yu de muv di yay we yu nɔ want:I tan lɛk se yu jɔs nɔ ebul fɔ kip yu yay na wan ples, ɔ dɛn de dart frɔm wan say to di ɔda say kwik kwik wan.
• Di an ɛn yay nɔ de wok fayn fayn wan: Fɔ ɛgzampul, i nɔ kin izi fɔ ol wan glas wata fayn, i nɔ kin izi fɔ bɔtin di shit, ɔ i nɔ kin izi fɔ rayt klia wan.
• Prɔblɛm wit balans ɛn kɔdineshɔn: We yu de waka, yu kin fil lɛk se yu go stɔp ɔ fɔdɔm izi wan. I kin at bak fɔ tinap stret.
• Slurred speech: Slurred speech , usay dɛn nɔ kin ebul fɔ kɔl wɔd dɛn fayn, we kin mek di tɔk nɔ klia. I tan lɛk se dɛn tay dɛn tong.
• Trɔbul fɔ prosɛs ɛn mɛmba infɔmeshɔn / lanin disabiliti: I nɔ kin izi fɔ lan nyu tin, fɔ fɔgɛt tin dɛn we dɛn dɔn tɔk kwik kwik wan, ɛn i nɔ kin izi fɔ kɔnsɛntret.
• Wach we yu nɔ gɛt wanwɔd: Wach lɛk se yu dɔn chak, lɛk se yu nɔ ebul fɔ kip yu fut stret, lɛk se yu de tray fɔ waka wit yu fut dɛn we spred big wan.

Dɛn sayn ya kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, ɛn aw dɛn kin tranga kin difrɛn bak fɔ di kayn SCA.

Aw dɔktɔ dɛn kin no se pɔsin gɛt SCA?

If yu gɛt dɛn sik ya, we yu go to dɔktɔ, if dɛn sɔprayz se yu gɛt SCA, dɛn go tɛst yu fɔ dɛn tin ya fɔ mek dɛn no di sik:

• Yu famili histri: Dɛn go aks yu if ɛnibɔdi na yu famili dɔn gɛt dɛn sik ya bifo, ɔ if ɛnibɔdi de we gɛt dis sik, SCA. Dis infɔmeshɔn rili impɔtant bikɔs i de rɔn na famili.
• Yu pasɔnal mɛdikal histri: Dɛn go aks bɔt ɔda sik dɛn we yu bin dɔn gɛt bifo, di mɛrɛsin dɛn we yu de tek, ɛn aw yu de liv yu layf.
• Wan kɔmplit ɛgzam fɔ yu bɔdi: Dis go inklud tɛst dɛn we gɛt fɔ du wit yu nervɔs sistɛm. Dɛn go chɛk yu balans, aw yu de waka, yu an ɛn yu fut trɛnk, aw yu de riflɛs, aw yu yay de muv, ɛn aw yu de tɔk.
• Dɛn go tek tɛm luk yu fɔ si if yu gɛt ɛni sayn we gɛt fɔ du wit SCA.

Afta dɛn tin ya, dɛn kin du ɔda tɛst fɔ no if pɔsin gɛt di sik:

• Jɛnɛtik tɛst: Dis na di men we fɔ no fɔ tru if yu gɛt SCA. Dɛn kin tek wan sɛmpul pan yu blɔd (ɔ sɔntɛm wan saliva sɛmpul) ɛn tɛst fɔ di jin we de mek SCA. Dɛn kin no bɔku kayn SCA wit dis jɛnɛtik tɛst.
• כltu, sכm tכp dεm de fכ SCA we dεn nכ no yet fכ wan spεsifi k jεnεtik mכtεshכn. So insay dɛn kayn tin ya, i nɔ kin izi fɔ kɔnfɔm wit jɛnɛtik tɛst nɔmɔ.
• If na so i bi, dɔktɔ dɛn go chɛk yu bren fɔ si if yu gɛt ɛnitin we nɔ fayn.Dɛn kin du spɛshal skan dɛn. Di wan we dɛn kin yuz mɔ na MRI skan (magnɛtik rɛsɔnans imej) . Dis kin luk fɔ ɛni sayn fɔ atrofi na yu sɛribɛl. Sɔntɛnde, dɛn kin du CT skan (kɔmpyuta tomografi) bak.

Dɔn bak, pipul dɛm wae tink se dɛn kin dɔn gɛt di jin muteshon bikɔs sɔmbɔdi na dɛn famili gɛt SCA kin gɛt dis jenɛtik tɛst. Dis kin rili impɔtant fɔ di wan dɛn we de plan fɔ bigin famili, dat na fɔ di wan dɛn we de plan fɔ bɔn pikin, fɔ disayd fɔ du sɔntin. Dɔn bak, we pikin de kam bɔn, dat na we i gɛt bɛlɛ, i pɔsibul fɔ chɛk if di pikin gɛt dis sik (prenatal testing) .

Yu tink se mɛrɛsin de fɔ dis `SCA`? Yu tink se dɛn kin mɛn am?

Dis na wetin ɔlman want fɔ no. כnכfכs, naw, nכ mכd nכ de fכ `Spinocerebellar Ataxia (SCA).` Yu kin fil sad we yu yeri dis, εn dat na nכmal tin.

Bɔt, dat nɔ min se dɛn nɔ go ebul fɔ du natin. Di men gol dɛm fɔ trit SCA na:

• Fɔ ridyus di sayn dɛm.
• Fɔ mek di kwaliti fɔ layf bɛtɛ.
• Fɔ ɛp yu fɔ wok fɔ yusɛf fɔ lɔng tɛm.

Dɛn kin du dɛn tin ya as tritmɛnt fɔ `Spinocerebellar Ataxia`:

• Fizik tritmɛnt: Dis rili impɔtant. Wan dɔktɔ we de mɛn yu bɔdi go tich yu aw fɔ ɛksesaiz fayn fayn wan, fɔ mek yu mɔsul dɛn strɔng, fɔ mek yu balans fayn, ɛn aw fɔ waka fayn.
• Ɔkupeshɔn tɛrapi: I de ɛp yu fɔ mek yu envayrɔmɛnt fɔ ɛp yu fɔ du ɛvride wok (e.g., it, drɛs, rayt) izi wan, ɛn tich yu tɛknik fɔ ɛp yu fɔ du dat.
• Spich therapy: If yu nɔ de tɔk fayn ɔ i nɔ izi fɔ swɛla wɔd, pɔsin we de mɛn pipul dɛn we de tɔk kin ɛp.
• Di tin dɛn we yu go yuz fɔ ɛp yu: As di sik de go bifo ɛn i nɔ izi fɔ waka, yu go nid fɔ yuz stik, tin fɔ waka, ɔ wilchia. Dɛn tin ya kin ɛp yu fɔ du tin dɛn fɔ yusɛf.
• Mɛrɛsin fɔ ridyus sɔm sayn dɛm: Dɔktɔ kin gi yu mɛrɛsin fɔ ɛp wit tin dɛm lɛk fɔ shek, stiff, mɔsul dɛm we de twitch, nɔr de slip, ɛn pwɛl hat. Bɔt dɛn mɛrɛsin ya nɔ de mɛn SCA, dɛn jɔs de kɔntrol di sik dɛn.

Dɔktɔ ɛn risach pipul dɛn stil de tray fɔ fɛn nyu tritmɛnt ɛn we fɔ ɛp pipul dɛn we gɛt SCA, fɔ manej am, ɛn fɛn nyu we fɔ trit am. So nɔ giv ɔp fɔ gɛt op.

We de fɔ mek `SCA` nɔ divɛlɔp?

Dis na kwɛstyɔn we bɔku pipul dɛn kin aks. Fɔ tɔk tru, naw, no we nɔ de we dɛn dɔn pruv fɔ mek dɛn nɔ gɛt SCA.Bikɔs dis kin apin mɔ frɔm di tin dɛn we wi gɛt na di jɛnɛtiks, wi nɔ go ebul fɔ stɔp am fɔ apin tru wetin wi de it ɔ drink ɔ di ɛksesaiz we wi de du.

Sɔm famili, afta dɛn dɔn tɛst dɛn jɛnɛtiks fɔ no se dɛn gɛt dis muteshon na dɛn famili, dɛn kin disayd nɔ fɔ bɔn pikin. Dis na di onli sure we fɔ mek dɛn nɔ pas di sik to di nɛks jɛnɛreshɔn. Dis na tin we pɔsin kin disayd fɔ du we i rili gɛt sɛns. I rili impɔtant fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks bifo yu disayd fɔ du dis kayn tin.

Wetin pɔsin we gɛt SCA kin ɛkspɛkt tumara bambay?

We i kam pan di fiuja fɔ pɔsin we gɛt SCA, i impɔtant fɔ no se i kin difrɛn bad bad wan frɔm wan pɔsin to ɔda pɔsin . I dipen pan bɔku tin dɛn, lɛk di kayn SCA we yu gɛt, aw i siriɔs, ɛn di ej we di sik bigin.

I sɔri fɔ no se bɔku tɛm we dɛn gɛt SCA, di sik kin wɔs smɔl smɔl, ɛn dis kin mek pɔsin day bifo tɛm.

Aw kwik di kɔndishɔn de go bifo kin difrɛn bak dipen pan di kayn ɛn di kayn we aw SCA de. So, fɔ tɛst di jɛnɛtiks nɔr kin ɛp fɔ no wetin na di sik nɔmɔ, bɔt i kin ɛp bak fɔ no wetin go apin tumara bambay.

Bɔku pipul dɛn kin nid wilchia 10 to 15 ia afta di fɔs sayn dɛn bigin. Na kɔmɔn tin fɔ mek pipul dɛm wae gɛt SCA kin dɔn nid ɛp fɔ du ɛvride, lɛk fɔ was, drɛs, ɛn fɔ pripia it.

Wetin ɔda tin a fɔ aks mi dɔktɔ bɔt SCA?

If yu gɛt `Spinocerebellar Ataxia (SCA),` ɔ if sɔmbɔdi na yu famili gɛt am, i rili impɔtant fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya:

• Us kayn `SCA` a gɛt ɛksaktɔli? (ɛgz. `SCA1, SCA2, SCA3`?)
• Us wok dεm na mi bכdi dis kayn `SCA` de afekt mכst?
• Us kayn spɛshal pipul dɛm (e.g. nyurolɔjis, fizik thɛrapist) a fɔ si fɔ mɛn dis sik?
• Aw ɔltɛm a fɔ kam fɔ mek dɛn chɛk mi na dɔktɔ? Us spɛshal tɛst dɛn a fɔ du?
• Us tritmɛnt dɛn de fɔ mi rayt naw? Wetin na di bɛnifit dɛn we wi kin gɛt?
• Yu tink se dis sik go mek a nɔ liv lɔng? (Dis na kwɛstyɔn we at fɔ aks, bɔt i impɔtant fɔ no.)
• I pɔsibul fɔ mek mi pikin dɛn gɛt dis sik? If na so i bi, aw i go bi se i go bi?
• I fayn fɔ mek ɔda pipul dɛn na mi famili (e.g. brɔda ɛn sista dɛn, pikin dɛn) gɛt jenɛtik tɛst?
• Us kayn sɔpɔt grup yu no bɔt we kin ɛp mi fɔ bia wit dis sityueshɔn ɛn kɔntinyu fɔ gɛt strɔng maynd? Ɛni grup dɛn de we tan lɛk dis na Sri Lanka?

Nɔ fred fɔ aks dɛn kwɛstyɔn ya. Di mɔ yu ɔndastand di tin we de apin to yu, na di mɔ i go izi fɔ yu fɔ liv wit am.

Wetin a fɔ du fɔ liv fayn wit SCA?

Na nɔmal tin fɔ fil bɔku kwɛstyɔn, frayd, sɔri, ɛn vɛks we yu kam fɔ no se yu gɛt SCA. Na di sem tin fɔ ɔlman. Nɔto yu wan de. Dɛn tin ya we de dɔŋ ya kin ɛp yu fɔ bia wit dis tranga tin ɛn kɔntrol am bɛtɛ smɔl:

• Aks fɔ ɛp ɛn sɔpɔt frɔm pipul dɛn we yu trɔst ɛn we de nia (famili, padi dɛn) . Nɔ strɛs wit dɛn tin ya yu wan. Tɛl dɛn aw yu de fil.
• Bi pɔsin we de tek pat tranga wan pan yu tritmɛnt . Go to yu dɔktɔ in apɔntinmɛnt, fala in instrɔkshɔn dɛn fayn fayn wan, aks ɛni kwɛstyɔn we yu gɛt, ɛn du tin dɛn lɛk fyzikal tritmɛnt.
• Tink bɔt fɔ tɔk to pɔsin we de gi advays bɔt pɔsin in maynd ɔ dɔktɔ we de mɛn pipul dɛn we gɛt sik dɛn we de ambɔg dɛn maynd . Dɛn kin ɛp yu fɔ dil wit dis prɔblɛm, lan aw fɔ bia wit dis prɔblɛm, ɛn gɛt trɛnk na yu maynd.
• Nɔ bɔtul yu filin, nɔ ignore dɛn . Kray if yu sɔri, ɛksprɛs am if yu vɛks (bɔt na we we nɔ de mɔna ɔda pipul dɛn).
• If i pɔsibul, jɔyn sɔpɔt grup usay yu go mit ɔda pipul dɛn we de gɛt di sem prɔblɛm dɛn we yu gɛt. Dis go ɛp yu nɔr go fil lɛk yu wangren ɛn yu kin lan bak frɔm ɔda pipul dɛn ɛkspiriɛns.
• Yu fɔ gɛt rial tin dɛn we yu go op fɔ . Ɔndastand wetin yu ebul fɔ du ɛn wetin yu nɔ ebul fɔ du. Sɔntɛm yu go gɛt fɔ lɛf sɔm tin dɛn, so rɛdi fɔ dat.
• Bifo yu fil bad fɔ we yu nɔ ebul fɔ du di tin dɛn we yu bin de du trade, pe atɛnshɔn pan di tin dɛn we yu stil ebul fɔ du . Tray fɔ gladi wit ivin di smɔl smɔl tin dɛn.
• It gud it we gɛt tin fɔ it, ɛksesaiz as yu ebul, ɛn slip fayn. Dɛn tin ya fayn fɔ yu ɔl yu wɛlbɔdi.

Mɛmba se SCA na jɔs wan pat pan yu layf. Nɔ mek i difayn yu kɔmplit wan. Yu stil gɛt famili we lɛk yu, padi dɛn, ɛn tin dɛn we yu stil ebul fɔ du.

So, wetin wi fɔ kɛr go na os frɔm dis stori?

Spinocerebellar Ataxia (SCA) na wan jεnεtik kכndyushכn we de afekt di bren εn sכmtεm di spεnal kכd. I kin mɔs afɛkt di bɔdi in balans ɛn kɔdineshɔn fɔ muvmɛnt. Dis sik kin wɔs smɔl smɔl as tɛm de go.

Di tin we impɔtant pas ɔl na:

• Naw, no patikyula mɛrɛsin nɔ de fɔ SCA. Bɔt sɔm tritmɛnt dɛn de (lɛk fyzikal tritmɛnt, ɛp, ɛn mɛrɛsin) fɔ kɔntrol di sayn dɛm ɛn mek layf izi.
• If yu gɛt sɔm kayn sik wae gɛt fɔ du wit `SCA`, go to dɔktɔ kwik kwik wan . If yu gɛt diagnosis kwik, dat kin ɛp yu fɔ bigin tritmɛnt.
• Bikɔs dis na tin we pɔsin kin gɛt frɔm in jɛnɛtiks, i impɔtant fɔ mek di famili no bɔt dis ɛn if nid de, dɛn fɔ advays dɛn bɔt dɛn jɛnɛtiks ɛn tɛst dɛn .
• Fɔ liv wit SCA na prɔblɛm. BɔtIf yu gi yu di rayt advays we yu de gi yu di dɔktɔ, yu go sɔpɔt yu famili, ɛn yu gɛt trɛnk na yu maynd, yu go ebul fɔ du dis waka.

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

` Spinocerebellar ataxia, SCA, ataxia, balans, nεv sεstem, jεnεtik sik dεm, sεribεl, Machado-Joseph sik