Yu pikin de sɔfa wit wan sik we de mek i nɔ ebul fɔ waka? Lɛ wi lan bɔt Arthrogryposis Multiplex Congenita.

No wɔd nɔ de fɔ tɔk bɔt di gladi at we wi kin gɛt we wi de luk pikin we dɛn jɔs bɔn, nɔto so? Bɔt sɔntɛnde, wi pikin dɛn kin gɛt smɔl smɔl wɛlbɔdi prɔblɛm dɛn. Tide wi go tɔk bɔt wan kɔndishɔn we dɛn nɔ kin yɛri bɔt, bɔt we rili impɔtant fɔ no bɔt. Dat na wan sik we dɛn kɔl arthrogryposis.

Wetin na Arthrogryposis?

Fɔ tɔk am simpul wan, Arthrogryposis Multiplex Congenita (AMC) na wan sik we dɛn kin bɔn pikin wit mɔ pas wan jɔyn we nɔ kin ebul fɔ bɛn ɔ stret . ‘Artho’ min jɔyn, ɛn ‘gryposis’ min fɔ bɛn ɔ kruk. Dis nɔto wan sik, bɔt na grup we gɛt pas 300 sik dɛn . fכ egzampl, yu kin si am wit mכsul sik dεm lεk Muscular Dystrophy εn jεnεtik kכndishכn dεm lεk Trisomy 18 - Edwards Syndrome.

Naw, we wi se 'joint stiffness', dɔktɔ dɛn kin kɔl dis `(contracture)`. dat min se di pikin in mכsul dεm, skin, εn tεndon dεm `(tεndon)` dεn tayt fכ tεm , so di jכint dεm de sכt, εn dεn nכ kin bεnd כ strεch fayn fayn wan. Tink bɔt am, jɔyn na ples dɛn lɛk wi an, wi hip, wi ni, ɛn wi nɛk. Na dɛn jɔyn dɛn ya de ɛp wi fɔ muf. So, pan pikin dεm we gεt arthrogryposis, dεn joyn dεm ya kin gεt difrεnt fכ muv fayn fayn wan. Dɛn kin stif ɔl, ɔ dɛn kin kruk, ɔ dɛn kin stret ɛn stɔp na wan pozishɔn .

Wetin na di spɛshal sayn dɛm we di pikin kin sho pan dis kayn tin?

di pikin dεm we gεt arthrogryposis gεt sεvεra spεshal kכntribyushכn dεm we dεn bכn dεm. Bɔt dɛn kwaliti ya kin difrɛn frɔm wan pikin to ɔda pikin, ivin insay di sem famili. Di tin dɛn we kin apin mɔ na:

• Dɛn kin put di sholda dɛn dɔŋ ɛn tɔn di bɔdi insay.
• Di wan we gɛt in ɛlb we dɔn ɛkstɛnd (i at fɔ bɛn).
• Di wan we in an ɛn finga dɛn bɛn insay ɛn stɔp.
• Sɔntɛm di hip bon dɛn dɔn kɔmɔt.
• Di wan we in ni dɛn stret.
• di fut dεm de tכn dכn εn insay (lεk `(Clubfoot)`).
• di spayna kin bεn to wan say (kכva fכ di spayna).

Dɛn sayn ya nɔr kin bi di sem fɔ ɔlman. Sɔm pipul dɛn kin gɛt wan ɔ tu pan dɛn tin ya, ɛn ɔda wan dɛn kin gɛt bɔku. Dɔn bak, i kin afɛkt big jɔyn dɛn ɛn bak smɔl jɔyn dɛn . Dis min se i kin afɛkt ɔltin frɔm di finga dɛn to di sholda dɛn.

Yu tink se men kayn atrɔgripɔsis de?

Yɛs, wi de tɔk mɔ bɔt tu kayn dɛn:

• (Amyoplasia) : Insay dis , di joyn dεm na di limb dεm de mεntal afekt .
• (Distal Arthrogryposis) : pan dis kayn , di stiffness de apin na di an εn fut (distal joints) , εn big joyn dεm lεk di sכlda εn hip dεm nכ de afekt bכku bכku wan.

Aw dis sik kin kɔmɔn?

Atrɔgripɔsis nɔto rili kɔmɔn tin . KinDis kכndyushכn gεt chans fכ apin pan lεk wan pan 3,000 pikin dεm we dεn bכn layf layf wan.

Dis na sɔntin we pɔsin kin gɛt frɔm in bɔdi? Na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?

Arthrogryposis na wan sik we dɛn kin bɔn wit . Dis min se di sayn dɛm kin bigin bifo dɛn bɔn am . Bɔku tɛm dɛn nɔ kin no di rayt tin we mek i apin . Bɔt i pɔsibul se na wan sik we de mek pɔsin gɛt prɔblɛm wit in jɛnɛtiks . masta sabi pipul dεn dכn no pas 400 mutated jin dεm we kכnεkt wit arthrogryposis. Dɛn dɔn fɛn bak se i gɛt sɔntin fɔ du wit pas 35 sik dɛn we de mek pɔsin gɛt jɛnɛtiks .

Wetin na di difrεns bitwin arthrogryposis εn isolated congenital contracture?

Gud kwɛstyɔn. `(Isolated Congenital Contracture)` min se di joyn stiffness de na wan pat nכmכ na di bכdi . Fɔ ɛgzampul, yu dɔn ɛva si sɔm pikin dɛn we dɛn bɔn wit wan fut nɔmɔ we dɛn bɛn insay? Dat na in dɛn kɔl `(Clubfoot)`. Dat na `(isolεt kכnεkshכn kכntrakt)`. Bɔt pan atrɔgripɔsis, di jɔyn dɛn kin stif na tu ɔ mɔ pat dɛn na di bɔdi .

Wetin kin mek pɔsin gɛt atrɔgripɔsis (AMC)?

Bɔku tɛm, di rayt tin we kin mek pɔsin gɛt atrɔgripɔsis nɔ kin klia . Bɔt sɔm tin dɛn de we dɛn kin tink se kin mek pɔsin gɛt dis sik:

• di pikin (bebi) nכ kin ebul fכ muv we i de gro na di bεlε . dis kin bi bay we yu nכ gεt inof amniotic fluid, we yu gεt כda pikin (lεk twins), כ di uterus shep we nכ nכmal. we di pikin nכ ebul fכ muv in joyn dεm fayn, εkstra tisu kin bכku rawnd dεn joyn dεm de, we de pinch dεm .
• Sɔm mɛrɛsin dɛn we di mama we gɛt bɛlɛ gɛt . fכ egzampl, wan sik lεk `(Multiple Sclerosis)`. If pɔrsin na yu famili gɛt `(Multiple Sclerosis)`, yu kin gɛt mɔ risk bak.
• Sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks . fכ egzampl, kכndishכn dεm lεk ``Muscular Dystrophy''.
• Sɛntral Nɛvɔs Sistɛm Diziz dɛn . Dis inklud di bren ɛn di spɛshal kɔd. εgzampl dεm na sik dεm lεk `(Moebius Syndrome)` εn `(Spina Bifida - Meningomyelocele)`.
• Nyuromɔskular Sistɛm Diziz dɛn . Fɔ ɛgzampul, wan sik we dɛn kɔl Myasthenia Gravis.
• Kɔnɛktif Tisu Diziz dɛn . εgzampl dεm na `(Dysplasia)` εn `(Mεtatropik Dwarfism)`.

Sɔntɛnde, dɛn kin tink se we dɛn jɔyn ɔl tu di tin dɛn we de na di jɛnɛtik ɛn di tin dɛn we de apin na di say we dɛn de, kin ple wan pat fɔ mek pɔsin gɛt atrɔgripɔsis.

Wetin na di sayn dɛm wae de sho se yu gɛt arthrogryposis?

Di sayn dɛm fɔ arthrogryposis kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin . Ivin insay di sem famili, wan pɔrsin in sik kin difrɛn ɔr kin tranga pas ɔda pɔrsin.

De sayn dɛm wae de kam ɔlsay na di wɔl na:

• Limitɛd abiliti fɔ muv smɔl ɛn big jɔyn dɛn.
• Sɔntɛm dɛn nɔ go ebul fɔ muv di smɔl ɛn big jɔyn dɛn atɔl.
• di mכsul dεm we de gro dכn dכn (haypoplastik mכsul dεm).
• di limb dεm sכft εn dεn shep lεk tyub.
• wan mεmbran we lεk skin (sכft tisu wεb) de fכm oba di joyn dεm, we de mek di joyn dεm nכ de muv.

Ɔda tin dɛn we bɔku pipul dɛn kin notis :

• di lכng bon dεm na di an εn leg dεm kin tכn bכku bכku wan εn i kin izi fכ brok.
• Kriptochidism na we di tεstikul dεm (tεstikul dεm) nכ de dכn insay di skrotum insay bכy pikin dεm.

Ficha dɛn we na wan wan pipul dɛn nɔmɔ kin si :

• Di hip, di ɛlbow, ɔ di ni dɛn we dɔn kɔmɔt.
• di prכblεm dεm wit di strכkchכ fכ di sεntri nεv sεstem (yu bren εn spεnal kכd).
• di prכblεm dεm wit di fכnshכn fכ di sεntri nεv sεstem (dat na di we aw i de wok).

Pipul wae gɛt amyoplasia nɔr kin gɛt prɔblɛm wit dɛn insay ɔgan ɔr kɔgnitiv wok . Bɔt lɛk 10% kin gɛt prɔblɛm wit di bɛlɛ. Ɛgzampul dɛn:

• Gastroschisis: Dis min se wan ol de na di bɛlɛ.
• Intestinal Atresia: Dis min se di intestinal de blok.

Di jɔyn dɛn na di leg dɛn kin afɛkt mɔ. Di jɔyn dɛn na di an dɛn de nɛks. Apat frɔm dat, dɛn jɔyn ya kin afɛkt bak bɔku tɛm:

• Sholda dɛn
• Ni dɛn
• Ɛlbo
• Fut
• Finga dɛn
• An
• To dɛn
• Wesbon dɛn
• Jaw jɔyn

Aw lɔŋ arthrogryposis (AMC) kin las?

Arthrogryposis na wan sik wae nɔr kin ebul fɔ mɛn ɔltogɛda . Bɔt sɔm tritmɛnt dɛn de we go mek yu gɛt bɛtɛ layf . Mɔr pan bɔdi tritmɛnt kin ɛp yu fɔ du ɛvride wok lɛk fɔ drɛs ɛn drink wata.

Aw yu go no if yu gɛt arthrogryposis (AMC)?

Sɔntɛnde, dɛn kin no di sik bifo dɛn bɔn di pikin . If di ɔltra saund skan we dɛn kin du ɔltɛm we uman gɛt bɛlɛ sho se tin nɔ de apin na di pikin in an ɛn fut dɛn, dɛn kin sɔprayz se na arthrogryposis. Dɔktɔ dɛn kin notis dɛn jɔyn prɔblɛm ya insay di sɛkɔn tri mɔnt we uman gɛt bɛlɛ . Da tɛm de, di dɔktɔ kin sɛn yu fɔ go advays yu bɔt yu jɛnɛtiks .

Yu jɛnɛtik kɔstɔma go gi yu infɔmeshɔn bɔt di jenɛtik kɔndishɔn we kin afɛkt yu pikin. Dɛn go aks bɔt yu famili wɛlbɔdi istri ɛn dɛn go tɛl yu fɔ du ɛni tɛst we yu nid fɔ du fɔ yu jenɛtiks. Fɔ ɛgzampul:

• `(Kɔriɔnik Vilɔs Sampling - CVS)`
• `(Amniocentesis)`

Ivin afta we dɛn bɔn di pikin, dɔktɔ dɛn kin no dis sik bay we dɛn de wach di sayn dɛn we i gɛt ɛn du difrɛn tɛst dɛn . Dɛn tɛst ya na:

• Nεv Kכndukshכn stכdi dεm: I de mכsu aw di ilektrikal impuls dεm de travul kwik kwik wan tru di nεv dεm.
• Ilektromayografi (EMG): I de rikodɔ di ilɛktrik aktiviti we di mɔsul dɛn de du.
• `(Muscle Biopsy)`: Dɛn kin tek wan smɔl pat pan di mɔsul ɛn chɛk am.
• Genome Sequencing: Fɔ no di jin dɛn we dɔn chenj.
• Blɔd tɛst: Luk fɔ si tin dɛn we nɔ fayn na di jin ɛn kromozom dɛn.
• `(Kכmparativ Jεnomik Haybridayzεshכn (CGH) εry)`: i de dεtekt chenj dεm na di kromozom dεm.
• Microarray: I de analayz bɔku bɔku jin dɛn wan tɛm.
• εkzom stכdi dεm: Fכ no difrεn chenj dεm na di jin dεm.

Sɔntɛnde, dɔktɔ dɛn kin abop bak pan imej tɛst lɛk ɔltra saund ɛn EMG.

Wae yu dɔktɔ dɔn no wan pɔrsin wae kin mek yu gɛt arthrogryposis , dɛn go mek wan tritmɛnt plan . Yu kin ɛp fɔ mek da plan de.

Aw dɛn kin trit atrɔgripɔsis (AMC)?

Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ mek di pikin gɛt atrɔgripɔsis, tritmɛnt kin mek di pikin in layf bɛtɛ bad bad wan .

Yu fɔ mɛmba se dis nɔto tin we de mek di pikin nɔ ebul fɔ liv fayn layf. If dɛn trit am fayn, dɛn kin ebul fɔ du bɔku tin dɛn fayn fayn wan.

Bikɔs di tin dɛn we kin mek pɔsin gɛt arthrogryposis difrɛn fɔ ɔlman, di tritmɛnt kin difrɛn frɔm wan pɔsin to ɔda pɔsin .

Di tritmɛnt dɛm wae dɛn kin yuse fɔ arthrogryposis na:

• Dɛn kin yuz kast fɔ mek di jɔyn dɛn we stif nɔ muv . Dɛn kin chenj dɛn tin ya smɔl smɔl fɔ mek di jɔyn ebul fɔ chenj.
• Fizik tɛrapi : Dis kin mek di jɔyn dɛn ebul fɔ muv fayn fayn wan ɛn i kin mek di mɔsul dɛn nɔ gɛt atrofi.
• Joint Manipulation : Dis involv spɛshal pɔsin we de muv di jɔyn dɛn jisnɔ.
• Stretching Exercises : dεn ya de mek di jכint dεm fכ fleksibul εn rεnj fכ muv.
• Ɔpreshɔn . Dɛn kin du ɔpreshɔn fɔ mek di jɔyn dɛn lɛk di anklɛ, di hip, di ni, di an, ɔ di ɛlb muv mɔ ɛn mɔ. Di men gol na fɔ mek di pikin wok fayn . dis min fכ fri di bon dεm frכm di tisu dεm we de mek dεn nכ muv, we de mek di mכsul dεm kכntrakt εn muv. Bɔt na smɔl pipul dɛn nɔmɔ dɛn kin du ɔpreshɔn .

Masta sabi bukman dɛn se dɛn fɔ yuz bɔku difrɛn tin dɛn fɔ du . Dis min se yu pikin kin nid mɔ pas wan tritmɛnt. Di bɛst tin kin apin we wan tim we gɛt dɔktɔ ɛn tritmɛnt pipul dɛn wok togɛda.

A nid fɔ go to spɛshal pipul dɛn?

Yɛs, na fɔ tru. Bɔrku spɛshal pipul dɛm de wae kin ɛp yu pikin wit arthrogryposis. Fɔ ɛgzampul:

• Wan dɔktɔ we de mɛn pikin dɛn
• Ɔtopɛdist (bɔn ɛn jɔyn spɛshal pɔsin) .
• Wan dɔktɔ we spɛshal pan nyurolɔjik sik dɛn (Neurologist) .
• Mɛdikal Jɛnɛtiks
• Rihabiliteshɔn Dɔktɔ
• Fizik Tɛrapist

Ɔl dɛn pipul ya kin wok togɛda fɔ mek di bɛst tritmɛnt plan fɔ yu pikin.

Ɛni tritmɛnt dɛn de we dɛn kin du na os?

Bɔrku pipul dɛm wae gɛt arthrogryposis go nid fɔ gɛt fizik tritmɛnt ɔl dɛn yɔŋ tɛm . Di wan dɛn we de mɛn yu bɔdi go tich yu ɛksesaiz dɛn we yu kin du na os . I rili impɔtant fɔ du dɛn tin ya kɔrɛkt wan.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl arthrogryposis (AMC)?

Dis na rili tin we yu nɔ ebul fɔ kɔntrol . Natin nɔr de we yu bin fɔ dɔn du fɔ ridyus yu pikin in risk fɔ gɛt arthrogryposis. So duya nɔ blem yusɛf .

Wetin na di fiuja fɔ pɔrsin wae gɛt arthrogryposis (AMC)?

Di lɔng tɛm lukin-grɔn fɔ pipul dɛm wae gɛt AMC de dipen pan sɔm tin dɛm:

• Di kayn we aw di atrɔgripɔsis siriɔs .
• Di ɔndalayn kɔz fɔ arthrogryposis.
• Aw yu ɔ yu pikin in bɔdi kin biev we dɛn gɛt tritmɛnt .

Bɔt di gud nyus na dat bɔrku pipul dɛm wae gɛt arthrogryposis de liv lɛk indipɛndɛnt big pipul dɛm . Tritmɛnt kin mek dɛn ebul fɔ muv sote dɛn kin liv nɔrmal layf, jɔs lɛk pipul dɛm wae nɔr gɛt arthrogryposis.

Yu tink se atrɔgripɔsis kin wɔs as tɛm de go?

Arthrogryposis nɔto wan sik we de go bifo . Dis min se di jɔyn stiffness nɔ de wɔs as tɛm de go. Bɔt sɔm tɛm dɛn de, di tin we kin mek pɔsin gɛt am kin rili siriɔs . So, wae dɔktɔ dɛn dɔn kɔnfirm se yu pikin gɛt arthrogryposis, i go fayn fɔ mek yu no di tin dɛn we kin mek i gɛt dis sik.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ bɔt atrɔgripɔsis?

We yu aks yu dɔktɔ kwɛstyɔn dɛn, dat kin ɛp yu fɔ ɔndastand di sik we dɛn kɔl atrɔgripɔsis fayn fayn wan. Tink bɔt fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya bɔt aw yu pikin gɛt di sik:

• Us kayn arthrogryposis mi pikin gɛt?
• Aw lɔŋ mi pikin go gɛt fɔ wɛr kast?
• Wetin na di bɛst tritmɛnt fɔ mi pikin?
• Us spɛshal pipul dɛn mi pikin fɔ si?
• Ustɛm wi kin bigin fɔ trit wi bɔdi?
• Ɛni mɛrɛsin de we mi pikin nid fɔ tek?
• Aw a go ɛp mi pikin di bɛst we?

Pipul wae gɛt arthrogryposis kin bɔn wit stiff ɔr nɔr de muv joyn. I nɔ kin izi fɔ dɛn fɔ du tin dɛn we dɛn kin du ɛvride, lɛk fɔ waka ɔ fɔ ol kɔp. Bɔku pipul dɛn nid fɔ gɛt tritmɛnt fɔ dɛn bɔdi ɛn sɔntɛnde dɛn kin gɛt ɔpreshɔn fɔ mek dɛn liv bɛtɛ layf.

Di las tin we mama ɔ papa want fɔ yɛri na dat sɔntin de we nɔ fayn wit dɛn pikin we nɔ bɔn yet ɔ we dɛn jɔs bɔn. Duya nɔ blem yusɛf . Natin nɔ de we yu bin fɔ dɔn du difrɛn we. If yu nid ɛp fɔ bia wit dis tranga tin, tɔk to yu dɔktɔ bɔt advays ɛn sɔpɔt grup dɛn. Nɔto yu wan de . Ɔda famili dɛn de we de go tru di sem kayn tin.

Fɔ dɔn, mɛmba dis (Take-Home Message) .

Arthrogryposis na wan sik we dεn bכn pikin wit mכr dan wan joyn we fכs εn i nכ ebul fכ muv fayn. I kin tan lɛk se i de mek dɛn fred, bɔt mɛmba se if dɛn trit dɛn pikin ya di rayt we ɛn kia fɔ dɛn wit lɔv, dɛn go ebul fɔ liv fayn layf .

Pan ɔl we dɛn nɔ kin fɛn wan patikyula kɔz ɔltɛm, di jɛnɛtiks ɛn sɔm tin dɛn we kin apin we uman gɛt bɛlɛ kin ɛp am . I rili impɔtant fɔ no am kwik ɛn bigin tritmɛnt lɛk fyzikal tritmɛnt, kast if nid de, ɛn nɔr kin ɔltɛm ɔpreshɔn.

Mɛmba se dis nɔto sɔntin we pɔsin kin ebul fɔ avɔyd, so as mama ɛn papa, nɔ fɔ mek una at pwɛl . Wok wit yu mɛdikal tim ɛn gi yu pikin wetin dɛn nid. Nɔto yu wan de, bɔku pipul dɛn de we go ebul fɔ ɛp.

If yu peshɛnt, lɔv, ɛn gi yu di rayt advays bɔt dɔktɔ , ivin pikin we gɛt arthrogryposis kin gɛt fayn fayn tumara bambay.

` Arthrogryposis, joyn stiffness, congenital kondishכn, pikin hεlth, jεnεtik sik dεm, fyzikal tεrapi, mכltipכl joyn stiffness