Yu mɔsul dɛn de wik bak? Dis kin bi mayotonik distrofi!

Yu dɔn ɛva fil lɛk se yu an ɛn fut dɛn we bin dɔn strɔng bifo, de stɔp smɔl smɔl ɔ wik? Ɔ sɔntɛnde i nɔ kin izi fɔ yu fɔ opin yu an we yu ol sɔntin tayt? Dis na tin dɛm wae sɔmtɛm wi nɔr kin pe atɛnshɔn to, bɔt dɛn kin bi sayn dɛm fɔ wan sik wae dɛn kɔl Myotonic Dystrophy . Lɛ wi tɔk bɔt dis ditayli ɛn jɔs tide.

Wetin na Mayotonik Distrofi?

Fɔ tɔk am simpul wan, Myotonic Dystrophy (DM) na kɔmpleks jɛnɛtik kɔndishɔn. Di men tin we de apin na dis na dat di mɔsul dɛn na wi bɔdi de atrofi smɔl smɔl ɛn wik. Di mɔsul dɛm fɔ pipul dɛm wae gɛt dis sik nɔr kin rilaks kwik kwik wan afta dɛn dɔn yuz am, bɔt dɛn kin kɔntinyu fɔ gɛt kɔntrakt. Wi kin kɔl dis mayotonia . I tan lɛk se yu ol domɔt knob tayt ɛn tray fɔ opin am, i kin tek sɔm tɛm.

Di simptom dɛm fɔ myotonic dystrophy (DM) kin rili bɔku. I kin afɛkt sɔm sistɛm dɛn na wi bɔdi. Fɔ ɛgzampul:

• wi skel mכsul dεm (mכsul dεm we wi de kכntrol bay wilful) εn di kadyak mכsul dεm.
• Yay.
• Kadyovaskular sistεm (sεsεmεnt we de mek yu sεkshכn).
• εndokrin sistεm (hכmon sistεm).
• Sεntri nεv sεstem (bren εn spεnal kכd).

Sɔm kayn mayotonik distrofi de?

Yes, tu men kayn DM de:

1. Myotonic dystrophy type 1 (DM1): Dɛn kin kɔl dis bak Steinert sik . DM1 bak gεt fכ sכbtayp dεm:

• Klasik tayp
• Mild tayp
• Di kayn we aw dɛn bɔn am (we de we dɛn bɔn am) .
• Di kayn we aw i bin smɔl

2. Mayotonik distrofi tayp 2 (DM2): dεn kכl dis bak proksimal myotonic myopathy .

Sɔntɛnde, de sayn dɛm fɔ ɔl tu di kayn sik kin fiba. כltu, DM2 kin sכmtεm sכmtεm pas DM1, we min se di simptom dεm nכ kin siriכs.

Wetin na di difrɛns bitwin Muscular Dystrophy ɛn Myotonic Dystrophy?

Dis na sɔntin we kin mek bɔku pipul dɛn kɔnfyus. Muscular dystrophy na wan grup we gɛt sik dɛn we pɔsin kin gɛt frɔm in mama ɛn papa (jɛnɛtik). Dis grup gɛt pas 30 kayn sik dɛn. Dɛn ɔl kin mek di mɔsul dɛn wik. Dɛn tin ya kin insay di kategori we dɛn kɔl myopathy , we na wan sik we de na wi skel mɔsul dɛn. As tɛm de go, di mɔsul dɛn kin smɔl ɛn wik. Dis kin mek i nɔ izi fɔ waka ɛn du wok dɛn ɛvride. Sɔntɛnde, di at ɛn di lɔng dɛn kin afɛkt bak.

Mayotonik Distrofi we dɛn kɔlNa wan kayn sik we de pan di grup we wi bin dɔn tɔk bɔt we gɛt mɔskul distrofi. di spεshal tin na dat pan di mכskul dεm we de bigin we dεn big, dis myotonic dystrophy kכndishכn na di wan we kכmכn pas כl. (Bɔt sɔm kayn DM kin bigin bak we dɛn smɔl ɔ we dɛn smɔl).

Udat kin gɛt myotonic dystrophy? Yu tink se difrɛns de bitwin di ej?

Difrɛn kayn DM kin bigin pan difrɛn ej. Lɛ wi si aw:

• Klasik mayotonik distrofi tayp 1 (Klasik DM1): Dis kin bigin insay di 20, 30, ɔ 40 ia.
• Mild myotonic dystrophy type 1 (Mild DM1): Dis kin afɛkt pipul dɛn we ol bitwin 20 ɛn 70 ia, bɔt i kin apin mɔ afta dɛn dɔn ol 40 ia.
• di kכnεjital myotonic dystrophy tayp 1 (Congenital DM1): lεk aw di wכd "congenital" sho, dis na tכp we de afekt bεlε pikin dεm. Dis min se i de de frɔm we dɛn bɔn am.
• Childhood myotonic dystrophy type 1 (Childhood DM1): Dis kin bigin arawnd di ej 10 ia.
• Myotonic dystrophy type 2 (DM2): Dis kin bigin bak we yu big. Bɔrku tɛm, di sayn dɛm kin bigin arawnd 48 ia.

Aw dis sik kin bɔku?

Myotonic dystrophy (DM) kin afɛkt at le 1 pan ɛvri 8,000 pipul dɛm ɔlsay na di wɔl. Bɔt dis nɔmba kin difrɛn bay di say we dɛn de ɛn di trayb we dɛn kɔmɔt. DM na di kayn mכsul dεm we de kכmכn pas כl pan pipul dεm we kכmכt na Yurop.

insay mכst populeshכn, DM tayp 1 (DM1) de kכmכn pas DM tayp 2 (DM2).

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

Dis na di men sayn dɛm fɔ DM. Dɛn kin wɔs smɔl smɔl as tɛm de go, dat min se dɛn kin wɔs mɔ ɛn mɔ:

• Muscle atrophy: Mɔsul dɛn de west.
• Di mɔsul dɛn we wik: Di mɔsul dɛn nɔ gɛt trɛnk igen.
• Myotonia: Wi don tok abaut dis bifo. Di nɔ ebul fɔ rilaks wan mɔsul wit ɔl yu at. Fɔ ɛgzampul, wans pɔsin we gɛt DM grap in domɔt knob, i kin at smɔl fɔ lɛf am.

Bɔt bikɔs DM kin afɛkt difrɛn pat dɛn na di bɔdi, difrɛn ɔda sayn dɛn kin apin. Di kayn we aw dɛn sik ya kin tranga ɛn di rit we dɛn kin gɛt kin difrɛn difrɛn wan bay di kayn DM.

Di simptom dɛm fɔ Klasik Mayotonik Distrofi Tayp 1

Dis kayn sik kin bigin wae pɔrsin dɔn big. Myotonia na di men sayn we dɛn kin si fɔs. dis kin notis mכr afta yu rεst εn i kin dכn sכmtεm afta di mכsul dεm de wok.

Ɔda sayn dɛn we de sho se yu gɛt dis sik na:

• Distal mɔsul wik: .dis min se di mכsul dεm we de fa frכm di sεntrכm pat na di bכdi (e.g., di mכsul dεm na di an εn lεg) de wik. dis kin mek i at fכ du dilik wok dεm wit di an dεm (e.g., fכ bכtכm, rayt). I kin mek i nɔ izi bak fɔ waka bikɔs ɔf wan kɔndishɔn we dɛn kɔl fut drɔp (lɛk se di bɔt ɔf di fut de drɛg along di grɔn).
• di atrofi na di fes mכsul dεm de mek di fes tek wan tin, pכynt shep (myopathic face) .
• Di at kɔndɔkshɔn abnɔmal tin dɛn.

di simptom dεm fכ di Congenital Myotonic Dystrophy Tayp 1

biכs dis kayn de de we dεn bכn di pikin, i kin sho sכm sayn dεm we i stil de na di bεlε:

• di fכs muvmεnt we de dכn na di bεlε.
• polyhydramnios na di amniotic fluid we pasmak we de rawnd di pikin we i bεlε.
• Klɔbfut ( fut tɔn insay).
• vεntrikulכmegali (we di vεntrikul dεm na di bren de big) (bikoz fכ di sεribrospεnal fכluid we de kכmכt).

Di sayn dɛm we dɛn kin si pan pikin ɛn big pipul afta dɛn bɔn dɛn:

• di כp lip de luk lεk tεnt bikoz fכ di fes mכsul dεm wik.
• Fɔ tɔk fayn (Dysarthria) .
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.
• insted fכ myotonia, di mכsul tכn de dכn (Hypotonia) .

Di simptom dɛm fɔ Mild Myotonic Dystrophy Tayp 1

Dis kayn sik kin bigin bitwin 20 ɛn 70 ia.

• Mild mɔsul wikɛdnɛs.
• Mayotonia (Mayotonia) we dɛn kɔl Mayotonia.
• Katarakt we pɔsin kin gɛt .

di simptom dεm fכ di pikin dεm we de fכm di Mayotonic Dystrophy Tayp 1

Dis kayn sik kin bigin arawnd wae yu ol 10. Dɛn tin ya na:

• Prɔblɛm fɔ lan ɛn saykososial prɔblɛm (e.g. famili prɔblɛm, pwɛl hat, wɔri).
• Tɔk we nɔ de tɔk fayn.
• Myotonia na di mɔsul dɛn na di an dɛn.
• Di at kɔndɔkshɔn abnɔmal tin dɛn.

Di simptom dɛm fɔ Myotonic Dystrophy Tayp 2

Di sayn dɛm fɔ tayp 2 DM kin bigin we pɔsin big ɛn i kin difrɛn.

Di sayn dɛm kin bi:

• wik כ tayt na di mכsul dεm we de nia di sεntrכm pat pan di bכdi (e.g., di mכsul dεm we de rawnd di hip dεm εn di sכlda dεm).
• Myofascial pen (pen na di mכsul dεm εn di kכnektiv tisu dεm) .
• Katarakt kin bigin kwik kwik wan (bifo i ol 50 ia).
• Mayotonia we gɛt difrɛn digri kin apin we yu ol sɔntin wit di an.
• I nɔ de yɛri fayn.

Pen na big kɔmplen pan pipul dɛm wae gɛt DM2. Dɛn pipul ya kin ripɔt se dɛn kin fil pen na dɛn bɛlɛ, dɛn skel mɔsul dɛn, ɛn we dɛn de du ɛksɛsayz.

Wetin kin mek pɔsin gɛt Myotonic Dystrophy?

Myotonic dystrophy (DM) na wan sik we de kam wit jεnεtiks , we min se i de pas frכm mama εn papa to pikin dεm tru di jin dεm.

DM tayp 1 (DM1) de kכz bay mכtεshכn (chεnj) insay di jin we dεn kכl DMPK . DM tayp 2 (DM2) de kכz bay mכtεshכn dεm na di jin we dεn kכl CNBP .

di sem kayn chenj dεm na di strכkchכ fכ di tu jin dεm, DMPK εn CNBP, na in de mek DM1 εn DM2. Insay ɛni wan pan dɛn, dɛn kin ripit wan pat pan di DNA bɔku tɛm di we we nɔmal. dis de mek wan rijyכn we nכ stebul na di jin. di mכr tεm dεm we dis sεkshכn pan DNA de ripit abnכmal, na di mכr di sεmtin dεm fכ DM de siriכs.

sayɛns pruf sho se di εksy כs mεsenja RNA we dεn abnכmal DNA rεpεt dεm ya de mek na tכxik. dis de ambɔg di prodakshכn fכ difrεn protin dεm na di sεl dεm, we de mek di simptom dεm fכ myotonic dystrophy na difrεn כgan dεm.

Aw dis sik kin pas frɔm jɛnɛreshɔn to jɛnɛreshɔn (Myotonic Dystrophy Inheritance) .

di tu kayn DM dεm de inhεrit insay wan patεn we dεn k כl כtosom dכminant . Insay dis patɛn, na wan mama ɔ papa nɔmɔ nid fɔ gɛt di jin we dɛn afɛkt fɔ mek di sik pas to pikin. Af pan di pikin dεm fכ mama εn papa we gεt כtosomal dכminant trayt go gεt di trayt.

as di myotonic dystrophy type 1 (DM1) de pas dכn frכm wan jεnereshכn to di nεks wan, di ej fכ bigin kin bכku bכku wan εn di simptom dεm kin wכs. Dɛn kɔl dis tin we kin apin we pɔsin de tink bɔt am . I tan lɛk se di sik de "spid up" frɔm wan jɛnɛreshɔn to di ɔda wan.

Aw dɛn kin no se pɔsin gɛt Myotonic Dystrophy? (Diagnosis) .

If yu gɛt sayn dɛn fɔ DM, dɔktɔ go fɔs chɛk yu ɛn aks yu bɔt:

• Yu pasɔnal mɛdikal istri.
• Famili mɛdikal histri, mɔ if ɛnibɔdi na di famili gɛt DM.
• Yu simptom dɛm.

Afta dat, dɛn kin du sɔm mɛdikal tɛst fɔ no if pɔsin gɛt DM.

Us kayn tɛst dɛn kin du?

Jɛnɛtik tɛst kin kɔnfɔm di diagnosis fɔ DM. dis tεst dεm de luk fכ mכtεshכn dεm na di DMPK jin (fכ DM1) כ di CNBP jin (fכ DM2).

If yu dɔktɔ tink se yu gɛt DM ɔ ɔda sik, dɛn kin du wan ɔ mɔ pan dɛn tɛst ya bifo dɛn rifer yu fɔ mek dɛn du yu jenɛtik tɛst:

• kriaytin kinaz bכdi tεst: Kriaytin kinaz na εnzym we de mεntal wan na di at εn skel mכsul dεm. We dɛn mɔsul sɛl dɛn ya pwɛl, dis ɛnzaym kin gɛda na di blɔd. Pipul wae gɛt mild DM kin gɛt dis lɛvɛl wae de ɔp smɔl, ɔr e kin bi nɔrmal.
• Ilɛktrɔmayogram (EMG): .insay dis tεst, dεn de put wan tכn εlektrod we lεk nidul insay di mכsul εn dεn de mכsu di ilektrikal aktiviti fכ di mכsul fayb dεm. Pipul wae gɛt DM kin gɛt ay ɛn lɔw ilɛktrik aktiviti na dɛn mɔsul dɛm, ivin we dɛn de rɛst.
• Mɔsul bayɔpsi: Insay dis, dɔktɔ kin tek smɔl tisu sɛmpul frɔm yu mɔsul ɛn chɛk am ɔnda maykroskɔp fɔ si if sayn dɛn de fɔ DM.

Dɛn go du ɔda tɛst afta dɛn dɔn kɔnfirm di sik?

Yɛs, if dɛn tɛst ya kɔnfirm DM, yu dɔktɔ kin tɛl yu fɔ du ɔda tɛst fɔ chɛk aw sɔm ɔgan dɛn we DM kin afɛkt de wok. Fɔ ɛgzampul:

• Wan ilɛktrokardiogram (ECG) tɛst fɔ chɛk aw di at de wok.
• di pulmonari fכnshכn tεst f כ chεk fכ nyuromכskular rεspiretכri prכblεm dεm.
• Wan stɔdi fɔ slip fɔ chɛk fɔ obstructive sleep apnea ɛn fɔ slip pasmak de .

Yu tink se tritmɛnt de fɔ Myotonic Dystrophy?

כnכfכs, nכ mכ rεshכn stil de fכ myotonic dystrophy (DM). So, di men gol dɛm fɔ tritmɛnt na:

• Fɔ manej di sayn dɛm.
• Fɔ kip di ay levul fɔ kwaliti layf ɛn indipɛndɛns.

Bikɔs DM kin afɛkt difrɛn pat dɛn na di bɔdi, di tritmɛnt dɛn kin difrɛn difrɛn wan bay di sayn dɛn we yu gɛt. Dɛn tin ya kin bi:

• Mɛrɛsin fɔ ridyus di mayotonia we de kɔntinyu fɔ de. Fɔ ɛgzampul, sɔdiɔm chanɛl blɔk dɛm lɛk Mɛksiletin , Trisayklik antidipreshan , Bɛnzodiazepin , ɔ Kalsiɔm antagonist .
• Wan CPAP mashin fɔ mek yu nɔ gɛt slip apnɛa.
• Stimulants lɛk methylphenidate fɔ mek pɔsin slip pasmak na de.
• Katarakt ɔpreshɔn na ɔpreshɔn fɔ pul wan katarakt we nɔ de si fayn.
• Tritmɛnt fɔ sik we dɛn kɔl dayabitis. Dis kin nid fɔ gɛt pils ɛn/ɔ insulin . Pipul dɛn we gɛt DM kin gɛt mɔ risk fɔ gɛt dayabitis bikɔs dɛn nɔ gɛt insulin .
• Tεstostεron tεrapi fכ man haypogonadism . Man dεm we gεt DM1 kin gεt lכw tεstostεron lεvεl εn εrectile dysfunction .

Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi na impɔtant tritmɛnt fɔ maksimayz indipɛndɛns fɔ pipul dɛm wae gɛt DM. Dɛn kin ɛp yu fɔ mek yu mɔsul dɛn strɔng ɛn lan nyu we dɛn fɔ du wok dɛn ɛvride. Yu kin kip yu indipɛndɛns bak bay we yu de yuz tin dɛn we de ɛp yu (e.g., bres, ken, wilchia).

Speech-language pathology (SLP) kin ɛp fɔ mek yu nɔ ebul fɔ swɛla (Dysphagia) ɛn fɔ tɔk fayn (Dysarthria) .

Yu tink se dɛn kin stɔp di divɛlɔpmɛnt fɔ di mayotonik distrofi?

Bikɔs DM na sik we pɔsin kin gɛt frɔm in mama ɛn papa, natin nɔ de we yu go du fɔ mek i nɔ gɛt am.

Bifo yu bɔn pikin, if yu de wɔri bɔt di risk fɔ pas DM ɔ ɔda tin dɛn we gɛt fɔ du wit yu pikin dɛn, tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks .

Wetin na di prɔgnosis wit dis sik?

Di luk fɔ myotonic dystrophy (DM) de dipen pan di kayn sik ɛn di ej we di simptom dɛn bigin. Jɛnɛral wan, if di sayn dɛm bigin we dɛn dɔn ol, di tin we kin apin nɔ kin fayn ɛn di layf we pɔsin kin liv kin smɔl.

Na lɛk 50% pan di pipul dɛm wae gɛt DM1 go nid wilchia fɔ go rawnd bifo dɛn day. Pipul wae gɛt DM2 nɔr kin nid ɛp fɔ go rawnd bikɔs dɛn sik nɔr kin fayn.

Wetin na de layf fɔ pɔrsin wae gɛt Myotonic Dystrophy?

Di avrej layf we pɔsin we gɛt DM kin liv kin difrɛn difrɛn wan bay di kayn sik we i gɛt.

• pan bεlε pikin dεm we gεt DM1 we dεn bכn wit, di nyu bכbi mכtalman rεt na bכt 18%. Na lɛk 25% pan di wan dɛn we gɛt DM1 we dɛn bɔn wit kin day bifo dɛn ol 18 mɔnt, ɛn lɛk 50% kin day bifo dɛn ol 30 ia.
• Pipul wae gɛt mild DM1 kin liv nɔrmal layfspan.
• Pipul wae gɛt Klasik DM1 kin gɛt shɔt layf pas di jenɛral pipul dɛm.

Yu tink se Myotonic Dystrophy kin kil pɔsin?

Yɛs, mayotonik distrofi (DM) kin kil pɔsin. Bɔt di ej we pɔsin kin day kin difrɛn difrɛn wan bay di kayn sik we i gɛt. Di men tin we kin mek pɔsin day pan DM na di nyuromɔskular-associated respiratory failure . Di prɔblɛm dɛn we kin apin to di at ɛn di blɔd kin bi bak wan tin we kin mek pɔsin day.

Ustɛm yu fɔ go to dɔktɔ bɔt myotonic dystrophy?

If yu gɛt sɔm sayn dɛn fɔ DM, lɛk we yu mɔsul dɛn wik ɛn we yu gɛt mayotonia, mek shɔ se yu go to dɔktɔ.

If yu gɛt DM, yu fɔ mit wit yu mɛdikal tim ɔltɛm fɔ mek shɔ se yu tritmɛnt plan we yu gɛt naw de wok fayn fayn wan.

We yu ɔ yu pikin gɛt nyu sik, i kin tranga fɔ bia. Bɔt mɛmba se nɔto ɔlman we gɛt mayotonik distrofi (DM) kin afɛkt di sem we. Di bɛst tin we yu kin du na fɔ tɔk to spɛshal pɔsin we de du risach ɛn trit DM. Dɛn kin tɛl yu bɔt aw fɔ trit yu ɛn ansa ɛni kwɛstyɔn we yu gɛt.

Lɛ wi mɛmba wetin wi bin tɔk bɔt as sɔmari (Take-Home Message)

• Myotonic dystrophy (DM) na wan sik we de kam wit jεnεtiks we kin mek di mכsul dεm wik εn west.
• Myotonia na wan sik we di mɔsul dɛn kin gɛt prɔblɛm fɔ rilaks afta dɛn dɔn yuz am.
• Tu men kayn DM de: DM1 ɛn DM2 . DM1 gɛt ɔda sɔbtayp dɛn.
• Di sayn dɛm kin difrɛn difrɛn wan fɔ di kayn DM ɛn frɔm wan pɔrsin to ɔda pɔrsin.
• Dis na bikɔs ɔf di chenj dɛn we de apin na di jin dɛn.
• Dɛn kin no di sik bay we dɛn de tɛst dɛn jenɛtiks ɛn ɔda tɛst dɛn.
• Pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin, tritmɛnt dɛn de we go ebul fɔ kɔntrol di sik dɛn ɛn mek yu layf bɛtɛ.
• If yu gɛt ɛni dawt bɔt dis, go to dɔktɔ wantɛm wantɛm. Fɔ no am kwik kwik wan rili impɔtant.

A op se dis infɔmeshɔn go yusful to yu. Stay wit wɛlbɔdi!

` Mayotonik Distrofi, Mɔsul Wiknɛs, Jɛnɛtik Sik, Mayotonik Distrofi, Mɔsul Sik, DM, Nyurolɔjik Sik