Yu pikin kin twitch ɛn stiff wantɛm wantɛm? Lɛ wi lan bɔt dis hyperekplexia!

Yu nyu bɔbɔ ɔ pikin we de smɔl kin fred wantɛm wantɛm we i sawnd ɔ tɔch am smɔl? I kin stiff ɛn fil lɛk se rɔk de bit am? Yu tink se i kin fil se i nɔ ebul fɔ blo smɔl? If yu dɔn ɛva notis sɔntin lɛk dis, i kin bi wan sik we dɛn kɔl hyperekplexia. Nɔ wɔri, wi go tɔk bɔt am ditayli.

Wetin na dis hyperekplexia?

Fɔ tɔk am simpul wan, Hyperekplexia na wan kayn nyurolɔjik kɔndishɔn we nɔ kin apin so ɔltɛm. dis na we yu pikin in mכsul dεm de stכf pasmak (dεn kכl am wit mεdikal Hypertonia''). So, i nɔ kin izi fɔ dɛn fɔ muv dɛn mɔsul dɛn fayn fayn wan.

apat frכm dat, dεn pikin ya de sho se dεn de sho se dεn de sכt rεakshכn we dεn nכ de εksεkt wan wan tεm we dεn nכ de εkspεkt (lεk we dεn de mek nכys, tכch, כ muv). Dis sɔprayz kin mek di bɔdi jɔk ɛn di yay dɛn kin blink. Afta dis shok, di pikin in bכdi kin rigid fכ sכm tεm, εn dεn nכ kin ebul fכ muv. Di tin we denja pas ɔl na dat sɔm pikin dɛn kin stɔp fɔ blo dis tɛm. If dis kɔntinyu, i kin mek pɔsin in layf de pan denja. Sɔmtɛm dis sik kin gɛt fɔ du wit Sudden Infant Death Syndrome (SIDS).

Dɔktɔ dɛn kin si dis sik pan pikin dɛn we dɛn jɔs bɔn, bifo dɛn bɔn dɛn ɔ afta dɛn bɔn dɛn. Bɔt dis sik we dɛn kɔl hyperekplexia kin apin to pikin ɛn big pipul dɛn bak.

Bɔku ɔda nem dɛn de fɔ dis sik:

• stif-pכsin sεndrכm we dεn bכn wit ((Konjenital stiff-pכsin sεndrכm))
• Hyperekplexia we pɔsin kin gɛt frɔm in mama ɛn papa ((Hɛriditary hyperekplexia))
• Di sik we dɛn kɔl Startle disease
• Stɔl sindrom ((Startle sindrom)) .
• Stif-bebi sindrom

Aw dis sik kin kɔmɔn?

Dis na rili tin we nɔ kin apin so ɔltɛm. Jɔs imajin, ivin na kɔntri lɛk Amɛrika, dɛn kin si dis sik lɛk wan pan ɛvri 40,000 pipul dɛn. So dis na sɔntin we dɛn nɔ kin si bɔku tɛm na Sri Lanka bak.

Wetin na di sayn dɛm fɔ Hyperekplexia?

Tu men fכm dεm de fכ dis kכndyushכn: Major fכm εn Mayn fכm.

Major mod

Dis na we yu de fred wantɛm wantɛm, we yu nɔ bin de tink se go apin, we yu tɔch am, muv am, ɔ sawnd yu. We yu fred, yu kin fil se yu ed de tilt bak, yu bɔdi de jɔk ɛn mek tin dɛn we nɔ kɔmɔn, ɔ yu bɔdi stif ɛn fɔdɔm na grɔn lɛk ston.

We pikin go slip, dɛn kin gɛt jɔk muvmɛnt. Apat frɔm dat, haypatonia kin rili kɔmɔn pan pikin dɛn we gɛt dis sik. Dɛn kin muv sloslo bak (dɛn kin kɔl dɛn haypokinesia) ɛn dɛn kin gɛt smɔl smɔl intɛlektual disabiliti .

Ɔda sayn dɛm wae kin apun pan bebi, pikin dɛm, ɛn big pipul dɛm wae gɛt dis big sik wae gɛt dis maynia sik na:

• Hyperreflexia (di riflεks we pasmak) .
• Apnea we de apin wan wan tɛm (we yu de stɔp fɔ blo) .
• Gait we nɔ stebul (gat we nɔ stebul) .
• Hip dislocation wen dεn bכn am
• Inguinal hεnia dεm.

Smɔl fɔm

Insai dis kayn mild fכm, pipul dεm wae gεt hyperekplexia kin כnli gεt wan rεspכns we nכ kin sכmtεm, we pasmak. Ɔda sayn dɛm kin bi smɔl ɔ nɔr de. Insay bebi dɛn, di twitch kin bɔku we dɛn gɛt fiva . Na pikin ɛn big pipul, di twitch kin bɔku bikɔs ɔf strɛs ɔ wɔri .

Bɔrku tɛm, di tu kayn sayn dɛm kin bigin wae dɛn bɔn pikin, bɔt fɔ sɔm pipul dɛm, dɛn kin bigin fɔ sho leta na dɛn layf, ilɛksɛf na pikin ɔ big.

Wetin mek dis hyperekplexia kin apin?

Di men tin we kin mek dis apin na di chenj we di jɛnɛtiks kin chenj. As fa as dεn dכn fכnshכn, at le fayv difrεn jin dεm kin mek dis hyperekplexia. Dɛn jin ya na:

• ATAD1
• GLRA1
• GLRB
• GPHN
• SLC6A5

dis jin dεm de ple rili imכtant rol fכ mek sכm protin dεm na wi nεv sεl dεm (nyuron dεm). dis protin dεm de kכntro aw di nεv sεl dεm de ansa to wan mכlikul na wi bכdi we dεn kכl glycine. Glycine na amino asid, we na wan bildin blכk fכ di protin dεm. Glycine na nyurotransmitta bak. Dis na kemikal we de sɛn signal tru wi nervɔs sistɛm.

nכmal wan, glycine de kכntro di stimulashכn fכ di mכsul fayb dεm. כltu, if jεnεtik chenj (mכtεshכn) de na wan pan di jin dεm we wi bin dכn tכk bכt, di ifekt we glycine gεt pan di nεv sεstem de rεdכks. Dɔn, di nɛv sɛl dɛn kin sɛn mɛsej to di bren ɛn di mɔsul dɛn we dɛn nɔ kin kɔntrol. Dis na di rizin we mek di mɔsul dɛn kin bigin fɔ riak pasmak, ɛn ɔda sayn dɛm fɔ hyperekplexia kin apia.

Tu we de wae yu kin gɛt dis sik, Hyperekplexia:

1. Insay wan ɔtosomal dominant we.

2. Insay wan ɔtosɔmal rɛsɛsiv we.

Dis na smɔl mɔ kɔmplikɛt jenɛtik tin dɛm, so yu dɔktɔ kin ɛksplen dis mɔ.

Wetin na de prɔblɛm wae kin kam wit dis sik?

Wi dɔn tɔk se we pikin dɛn we dɛn jɔs bɔn gɛt hyperekplexia, dɛn bɔdi kin stif ɛn nɔ kin ebul fɔ muv fɔ sɔm tɛm. We dɛn de stiff dis, sɔm pikin dɛn kin stɔp fɔ blo. Dis na di men tin we kin mek pɔsin gɛt sik we dɛn kɔl sudden infant death syndrome (SIDS). SIDS na di men tin we kin mek pikin dɛn we nɔ rich wan ia yet day we dɛn nɔ kin ɛksplen.

Na smɔl tɛm nɔmɔ, pikin dɛn we gɛt haypereksia kin gɛt sik bak ((Epilepsy)), ɔ wetin wi kin kɔl epileptic seizures.

Di sayn dɛm fɔ hyperekplexia kin dɔn we yu ol wan ia. Bɔt pikin ɛn big pipul dɛn we gɛt dis sik kin kɔntinyu fɔ gɛt sɔm tɛm dɛn we dɛn kin shek izi wan ɛn dɛn kin stif. Dis kin mek dɛn fɔdɔm ɔltɛm. As dɛn de ol, dɛn nɔ kin ebul fɔ bia wit lawd nɔys ɛn ples dɛn we pipul dɛn kin bɔku. Pipul wae gɛt epilepsy kin gɛt dis sik ɔlsay na dɛn layf.

Aw yu kin no bɔt dis?

We dɛn de no di sik we dɛn kɔl Hyperekplexia, di dɔktɔ dɛn kin pe atɛnshɔn pan tri men sayn dɛn:

• Di wan ol bɔdi kin stif jɔs afta dɛn bɔn am .
• Wan ɛgzajarayt sɔprayz rispɔns to wan stimulus we dɛn nɔ bin de ɛkspɛkt.
• Afta dɛn dɔn sɔprayz, di wan ol bɔdi kin stif fɔ shɔt tɛm.

Di ɔspitul tɛst dɛm – blɔd tɛst, urine tɛst, bren skan ɛn EEG – ɔl de sho nɔmal rizɔlt. Bɔt we dɛn tɛst di jɛnɛtiks , dɛn kin no di fayv jɛnɛtik muteshon dɛn we gɛt fɔ du wit di sik.

Tritmɛnt de fɔ Hyperekplexia?

Yɛs, dɛn kin trit am! pan pikin dεm εn big pipul dεm, di men tritmεnt fכ hyperekplexia na wan drog we dεn kכl (Clonazepam), we de ridyus di wεri εn rεdכks mכsul dεm stiffness. (Clonazepam) na wan mild sedativ we de pan di (Benzodiazepine) klas. I de ɛp fɔ ridyus di sayn dɛm fɔ hyperekplexia, mɔ di mɔsul dɛm we de stiff. Dɔktɔ dɛn kin gi pikin dɛn 0.01 to 0.1 miligram fɔ wan kilogram bɔdi wet fɔ wan de ɛn 0.8 miligram fɔ wan de fɔ big pipul dɛn.

Yu dɔktɔ kin gi yu sɔm ɔda mɛrɛsin fɔ trit dis sik. Fɔ ɛgzampul:

• Kabamazεpin ((Kabamazεpin)) .
• Fɛnobarbitol ((Fɛnobarbital)) .
• Fɛnitoin ((Fɛnitoin)) .
• Diazepam ((Dayazepam)) na di bɔdi.
• Sɔdiɔm valproɛt ((Sɔdiɔm valproɛt))

Ɔda tritmɛnt dɛn kin bi fyzikal tritmɛnt fɔ di prɔblɛm fɔ waka ɛn kɔgnitiv-bihayvya tɛrapi (CBT) fɔ ridyus wɔri.

Wetin go apin tumara bambay we dis tin apin? (Prɔgnosis) .

Bɔrku tɛm, di sayn dɛm fɔ hyperekplexia na pikin dɛm go stɔp bay di tɛm we dɛn ol lɛk wan ia. Dat na nyus we rili kɔrej wi. Bɔt pan pikin ɛn big pipul dɛn, di tin dɛn we dis sik kin du kin las fɔ ɔl dɛn layf. Bɔt lɛk aw wi bin dɔn tɔk, mɛrɛsin dɛn de we kin ɛp fɔ kɔntrol di sik dɛn.

Yu tink se dɛn go ebul fɔ stɔp dis?

Hyperekplexia na wan sik wae de kam wit jεnεtiks, so dεn nɔr kin ebul fɔ avɔyd am. If yu de wɔri ɔ yu gɛt ɛni dawt if yu pikin go gɛt dis sik, i go fayn fɔ mek yu tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks. Dɔn yu kin ɔndastand dis klia wan.

Aw a kin kia fɔ misɛf? / Tek kia of mi pikin?

If yu ɔ yu pikin gɛt hyperekplexia, i impɔtant fɔ tek di mɛrɛsin we yu dɔktɔ gi yu di rayt we ɛn di rayt tɛm. Yu dɔktɔ go tɛl yu bɔt di bɛst tritmɛnt fɔ yu sik. Dɛn mɛrɛsin ya fɔ ɛp fɔ kɔntrol yu sik dɛn.

Ustɛm a fɔ go to dɔktɔ?

If yu pikin we dɛn jɔs bɔn gɛt hyperekplexia, di dɔktɔ go notis am we dɛn bɔn am. Sɔntɛnde, dɛn kin no am ivin bifo dɛn bɔn am. If dis apin, yu pikin in dɔktɔ go bigin fɔ trit am wantɛm wantɛm.

Bɔt if yu ɔ yu pikin gɛt sik we yu nɔ ebul fɔ ɛksplen , i impɔtant fɔ go to dɔktɔ wantɛm wantɛm, bikɔs dis sik we dɛn kɔl hyperekplexia kin mek yu gɛt sik bak.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If yu ɔ yu pikin gɛt hyperekplexia, i go fayn fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya:

• Wetin mek dis tin bin apin? (Wetin na di rizin fɔ dis?)
• Us tritmɛnt yu kin advays?
• I pɔsibul fɔ mek mi pikin dɛn we go kam fɔ gɛt dis hyperekplexia?

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Na nɔmal tin fɔ fil sɔri ɛn shɔk we yu kam fɔ no se yu nyu bɔbɔ gɛt Hyperekplexia. Nɔbɔdi nɔ want fɔ si in pikin de sɔfa. Bɔt if yu ɔ yu pikin de sɔfa wit dis sik, mɛmba se nɔto yu wangren de. Yu mɛdikal tim de ɔltɛm fɔ ɛp yu. Dɛn go gi yu tritmɛnt fɔ ɛp fɔ kɔntrol di sayn dɛm fɔ dis sik.

Di tin we impɔtant pas ɔl na, if yu pikin gɛt Hyperekplexia, .Mɛmba se dɛn sik ya go mɔs dɔn di tɛm we dɛn rich dɛn fɔs batde. Dat na big rilif, nɔto so? So, fes dis tin wit maynd, fala di advays we dɔktɔ gi yu.