Yu tink se mayotonia de mek yu bɔdi stif? Lɛ wi tɔk bɔt am!

Sɔntɛnde yu kin fil lɛk se yu an, yu leg, ɔ ɛni mɔsul na yu bɔdi stif ɛn yu nɔ ebul fɔ rilaks kwik kwik wan lɛk aw yu tink? Lɛk we yu de shek yu an wit pɔsin ɛn i nɔ izi fɔ pul yu an, ɔ we yu tray fɔ grap na chia, i kin tek sɔm tɛm. Dis na jɔs wan pan di sayn dɛm fɔ wan sik we dɛn kɔl myotonia. Nɔ wɔri, wi go tɔk bɔt dis ditayli.

Wetin na Mayotonia?

Fɔ tɔk am simpul wan, mayotonia na we yu mɔsul dɛn nɔ de rilaks kwik afta dɛn dɔn kɔntrakt. Imajin se yu de shek yu an wit pɔsin, bɔt i at fɔ pul yu an go, ɔ we yu sidɔm ɛn tray fɔ grap, yu leg dɛn kin fil stif fɔ sɔm tɛm. Na di kayn tin dat.

Difrɛn kayn mayotonia dɛn de. Ɛni kayn tin kin apin bikɔs ɔf wan chenj na di jɛnɛtiks . Dis min se na sɔm tin dɛn we kin apin to di jin dɛn we de na wi bɔdi kin mek i apin. Insay ɛni wan pan dɛn, wan difrɛn jin de afɛkt.

Bikɔs ɔf dɛn jɛnɛtik chenj ya, mayotonia kin afɛkt ɔda pat dɛn na yu bɔdi. Dipen pan di kayn myotonia we yu gɛt, dis kin afɛkt yu:

• To di at
• To di lɔng dɛn
• To di dijestiv sistɛm
• To di bren
• Fɔ di yay dɛn

I kin apin to ɔgan dɛn lɛk.

Na nɔmal tin fɔ fil fɔ fred we yu gɛt wan sik we yu nɔ bin gɛt bifo, lɛk we yu mɔsul dɛn stif. Yu go de wɔnda se, "Dis go wɔs?" ɔ "Aw dis go afɛkt mi layf?" Di bɛst tin we yu go du na fɔ go to dɔktɔ . Myotonia na wan sik we nɔ kin apin so ɔltɛm, so i kin tek sɔm tɛm fɔ mek dɛn no di sik kɔrɛkt wan. Bɔt te da tɛm de, yu dɔktɔ go ɛp yu fɔ mek yu nɔ fred ɛn ansa yu kwɛstyɔn dɛn.

Wetin na di men kayn myotonia?

Dɔktɔ dɛn kin sheb mayotonia to tu men kayn: distrofik ɛn nɔ-distrofik . di tu kayn dεm de afekt di ilektrikal signal dεm we de kכntro di mכsul dεm we de kכntrakt. Bɔt insay distrofik myotonia, di mɔsul insɛf kin pwɛl. Di wɔd ‘distrophy’ min ‘di tisu we de wik ɔ west smɔl smɔl.’

Distrofik Mayotonia (DM) .

Dystrophic Myotonia (DM) na wan kכndyushכn we di mכsul dεm de wik εn shrink (atrophy) as tεm de go, we de pan wan grup כf sik dεm we dεn kכl mכskul dεstrofi. Tu men kayn dɛn de:

• Myotonic Dystrophy type 1 (DM1) – Dis na di kayn we we dɛn kin yuz mɔ.
• Mayotonik Distrofi tayp 2 (DM2) .

Mayotonia we nɔ gɛt distrofik

insay di nכn-dystrophic myotonia, di strכkchכ fכ di mכsul tisu nכ de dεm. Sɔm ɔda kayn dɛn we de insay dis kategori na:

• Andersen-Tawil sindrom we gɛt di sik
• Haypakalemik paralayz we kin apin ɔltɛm
• Hypokalemic periodic paralysis tayp 1 ɛn tayp 2
• Myotonia congenita – Dis na di kayn we we dɛn kin kɔl dis grup.
• Paramyotonia we dɛn bɔn wit
• Sɔdiɔm chanɛl mayotonia

Wetin na di sayn dɛm fɔ Myotonia?

di men sayn fכ myotonia na we i nכ ebul fכ rilaks wan mכsul wans i dכn kכntrakt. Dɛn sayn ya kin apin we i smɔl, we i smɔl, ɔ we i big, i kin dipen pan di kayn mayotonia.

Ɔda kɔmɔn sayn dɛm wae yu kin si na:

• di chenj na di we aw yu mכsul dεm de luk – fכ egzampl, di mכsul dεm we de big (hypertrophy) כ di mכsul dεm we wik (hypotonia) .
• Taya .
• Mɔsul dɛn kin pen .
• Di mɔsul dɛn we wik .
• Fɔ fil se yu mɔsul tayt, bɔt di tayt de go dɔŋ we yu muv smɔl ɔ ɛksesaiz (wɔm-ap fenomen) .

Spɛsifi k simptom dɛm fɔ distrofik mayotonia

εvri kayn distrofik myotonia gεt spεshal simptom dεm. Sɔm ɛgzampul dɛn na:

• Bɛlɛ pen, kɔnstipɛshɔn, dayarɛa, asid riflɔks, blo.
• Abnɔmal tin dɛn we de apin na di fes (fes dysmorphisms) .
• Katarakt (we de mek di yay de si klawd) .
• Hyperglycemia na wan sik wae kin kam wae pɔrsin nɔr gɛt insulin, wae kin mek pɔrsin gɛt bɔrku shuga na in blɔd.
• Intɛlektual disabiliti .
• di at nɔ de bit ɔltɛm (arrhythmia) ɔ prɔblɛm wit di at in ilɛktrik signal dɛm.
• di ia we de kכmכt frכm di fכnt pat pan di ed pan man dεm (androgenic alopecia) .
• Slip apnea (slip apnea) .

Wetin na de sayn dɛm fɔ pipul dɛm wae gɛt Periodic Paralysis?

Yu gɛt hyperkalemic periodik paralayz.If yu gɛt am, yu kin gɛt wan sik we tan lɛk paralayz we yu mɔsul dɛn nɔ kin gɛt trɛnk fɔ lɛk wan to 4 awa so.

If yu gɛt hypokalemic periodic paralysis , yu kin gɛt mɔsul dɛn we wik na nɛt ɔ na mɔnin. Dis kin las frɔm sɔm awa to sɔm dez.

Wetin kin mek pɔsin gɛt mayotonia?

Mayotonia kin kam bikɔs ɔf wan patikyula chenj na wan pan yu jin dɛn . Fɔ tɔk mɔ, dɛn chenj ya we de apin na di jɛnɛtiks de afɛkt di ayɔn chanɛl dɛn we de kɔntrol di wok we yu mɔsul dɛn de du.

εvri kayn myotonia de kכz bay wan mכtεshכn na difrεn jin. fכ egzampl, myotonic dystrophy tayp 1 de kכz fכ wan prכblεm wit di DMPK jin . Myotonia congenita de kכz fכ wan prכblεm wit di CLCN1 jin . Yu kin gɛt dis jɛnɛtik muteshɔn frɔm wan pan yu mama ɛn papa ɔ ɔl tu. Ɔ, i kin divɛlɔp randomly.

Aw yu go no if yu gɛt mayotonia?

We yu bigin fɔ no di sik, yu dɔktɔ go aks yu bɔt yu sik dɛn ɛn yu famili wɛlbɔdi istri . Dɔn, bifo dɛn tɛl yu fɔ du tɛst fɔ mayotonia, dɛn go pul ɔda kɔmɔn tin dɛn we kin mek yu gɛt di sik, lɛk haypothayroydism .

Dis na di tεst dεm we dεn kin yus fכ no if yu gεt mayotonia:

• Kriatin kinaz (CK) Blɔd Tɛst: Kriatin kinaz na ɛnzaym we de mɔ na di mɔsul dɛn. di CK lεvεl dεm kin כlwayz εlevεt insay myotonia.
• Ilɛktromayografi (EMG): Dis tɛst de chɛk di wɛlbɔdi ɛn wok we yu skel mɔsul dɛn ɛn di nɛv dɛn we de kɔntrol dɛn de du.
• jεnεtik tεst dεm: dεn tεst ya kin no di jεnεtik chenj dεm we de mek difrεn fכm dεm fכ myotonia.
• Potassium blood test: Yu dɔktɔ kin yuz dis tɛst fɔ chɛk fɔ hyperkalemic periodic paralysis (potassium we bɔku na di blɔd) ɔ hypokalemic periodic paralysis (potassium we nɔ bɔku na di blɔd).
• Short exercise test: Insay dis tɛst, yu fɔ kɔntrakt yu mɔsul dɛn pan sɔm tɛm dɛn we yu dɔn sɛt we dɔktɔ de wach aw yu nɛv ɛn mɔsul dɛn de ansa.

Myotonia na wan sik we nɔ kin apin so ɔltɛm, .I kin tek sɔm tɛm fɔ mek yu gɛt kɔrɛkt diagnosis. Nɔ wɔri bɔt dat.

Wetin na di tritmɛnt dɛm fɔ myotonia?

Tritmɛnt fɔ myotonia na spɛshal fɔ yu kayn ɛn di sayn dɛm. Yu ɛn yu dɔktɔ go wok togɛda fɔ mek wan tritmɛnt plan we go fayn fɔ yu. Nɔ shem fɔ aks ɛni kwɛstyɔn we yu go gɛt.

Bɔrku tɛm , fizik tritmɛnt na pat pan yu tritmɛnt plan. Wan dɔktɔ we de mɛn yu bɔdi kin ɛp yu fɔ avɔyd tin dɛn we yu no ɔ we kin mek yu gɛt prɔblɛm ɛn mek yu plan fɔ du ɛksɛsayz we go ɛp yu fɔ kɔntinyu fɔ du mɔ as yu ebul. Ɔkupeshɔn thɛrapist dɛn kin ɛp yu bak fɔ fɛn nyu we fɔ du ɛvride wok. Dɛn kin rɛkɔmɛnd bak fɔ yuz tin dɛn fɔ ɛp yu fɔ adap ɔ fɔ muv.

Distrofik Mayotonia Tritmɛnt

Dystrophic Myotonia de trit am wit simptomatik wan. Yu go nid fɔ gɛt chɛk-ap ɔltɛm fɔ wach di wɛlbɔdi fɔ di ɔgan dɛm we yu kayn Dystrophic Myotonia afɛkt.

Di mɛrɛsin we dɔktɔ dɛn kin gi mɔ na mɛksilɛtin . Na tru tru wan mɛrɛsin we de mek pɔsin nɔ ebul fɔ waka , bɔt i kin ɛp bak fɔ mek di mɔsul dɛn twitch ɛn stiff. mεksiletin kin εp bak wit sכm kayn non-dystrophic myotonia.

Nɔn-distrofik Mayotonia Tritmɛnt

Apat frɔm di mɛrɛsin dɛm, tritmɛnt fɔ non-dystrophic myotonia kin inklud fɔ avɔyd sɔm trig dɛm. Dɛn tin ya na:

• Fɔ avɔyd fɔ de na kol.
• Fɔ stɔp fɔ du ɛksɛsayz we yu de tray tranga wan.

Tritmɛnt fɔ Paralayz wan wan tɛm

Di tritmɛnt fɔ paralayz wan wan tɛm kin involv fɔ kɔntrol di potashɔm lɛvɛl ɛn fɔ avɔyd di tin dɛn we kin mek pɔsin nɔ ebul fɔ waka. Yu dɔktɔ go tɛl yu fɔ avɔyd dɛn tin ya:

• Fɔ rɛst fɔ lɔng tɛm afta yu dɔn du ɛksɛsayz.
• Fɔ it it dɛn we gɛt bɔku kabɔhaydrɛt.
• Fɔ it di tɛm we yu nɔ de it ɔltɛm.
• Slip we yu nɔ de slip ɔltɛm.
• Fɔ wok na nɛt.

If yu gɛt hypokalemic periodic paralysis , yu dɔktɔ kin tɛl yu fɔ it tin dɛn we gɛt bɔku potassium, lɛk banana, bins, dray frut, mango, ɛn papaya.

If yu gɛt hyperkalemic periodic paralysis , yu kin nid fɔ avɔyd it dɛn we gɛt bɔku potassium .

If dɛn tin ya nɔ go du fɔ kɔntrol yu sik dɛn, yu dɔktɔ kin gi yu wan pan di mɛrɛsin dɛn we dɛn kɔl diklɔrfenamayd ɔ asetazɔlamid .

Yu tink se dɛn kin stɔp di divɛlɔpmɛnt fɔ mayotonia?

Mayotonia kin kam bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks, so natin nɔ de we yu go du fɔ mek i nɔ apin. If pɔsin na yu famili gɛt mayotonia, ɔ if yusɛf gɛt dis sik, ɛn yu de plan fɔ bɔn pikin, tink bɔt fɔ go to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn kin ɛksplen yu risk fɔ gɛt dis sik ɛn pas am to yu nɛks jɛnɛreshɔn.

Wetin na di prɔgnosis fɔ pɔrsin wae gɛt myotonia? (Prɔgnosis) .

If yu gɛt myotonia, aw yu go si tin kin dipen pan sɔm tin dɛn. Dɛn tin ya na:

• Di kayn myotonia we yu gɛt.
• Di kayn we aw yu sik dɛn kin tranga.
• Aw yu bɔdi kin biev we yu gɛt tritmɛnt.
• Yu ɔl wɛlbɔdi biznɛs ɛn yu ej.

Yu dɔktɔ go ebul fɔ gi yu gud aidia bɔt wetin go apin tumara bambay fɔ yu patikyula sityueshɔn, bɔt in jɔnal na sɔntin lɛk dis:

• di non-dystrophic myotonia dεm jεnarali gεt gud prכgnosis, bכt dis kin difrεn dipכnt pan aw yu simptom dεm siriכs.
• di prכgnosis fכ distrofik myotonia dεm dipכnt pan aw כda bכdi sistεm dεm de afekt bad bad wan. di mayotonik distrofi tayp 1 εn 2 kin sכt di layf εkspεktεns bak.
• Paralayz wan wan tɛm kin wɔs wit di ej, ɛn i kin mek bak yu gɛt prɔblɛm wit yu mɔsul dɛn we go de sote go (mayopathy) .

Ustɛm a fɔ go to dɔktɔ?

Myotonia na wan sik wae de mɛk pɔrsin nɔr de mɛn/lɔng tɛm. So, yu go nid fɔ go to dɔktɔ ɔl yu layf fɔ wach yu sik ɛn si aw yu tritmɛnt de wok fayn fayn wan.

Impɔtant tin na dat, di tin dɛn we gɛt fɔ du wit mayotonia kin afɛkt di we aw yu de du tin we dɛn de tek anestezi . If dɛn dɔn arenj fɔ mek dɛn du ɛni ɔpreshɔn, yu fɔ tɛl yu dɔktɔ bɔt am. Yu fɔ tɛl di dɔktɔ we de mɛn yu bak we go de kia fɔ yu we dɛn de du di ɔpreshɔn.

Na nɔmal tin fɔ fil fɔ shok ɛn de yu wan wae dɛn no se yu gɛt wan sik wae nɔr kin bɔrku. Mayotonia kin afɛkt ɔlman difrɛn we, so yu kin gɛt bɔku kwɛstyɔn dɛn. Yu mɛdikal tim go de wit yu ɔlsay na yu diagnosis ɛn tritmɛnt joyn. Gɛt sɔpɔt frɔm dɛn, ɛn bak frɔm di wan dɛn we yu lɛk.

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

Myotonia na wan sik we di mכsul dεm nכ de rilaks kwik afta dεn dכn kכntrakt. Dis kin apin bikɔs ɔf di tin dɛn we de apin na di bɔdi.

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- tu men tכp dεm de fכ dis: distrofik (dεm de damej di strכkchכ fכ di mכsul dεm) εn nכn distrofik (dεn nכ de damej di strכkchכ).

- Di sayn dɛm kin bi we di mɔsul dɛn kin stif, wik, pen, ɛn taya. Sɔm kayn dɛn kin gɛt sɔm patikyula sayn dɛn bak.

- Dɛn kin yuz blɔd tɛst, EMG, ɛn jenɛtik tɛst fɔ no di sik.

- Di tritmɛnt kin difrɛn difrɛn wan bay di kayn sik ɛn di sayn dɛm. Dis inklud fyzikal tritmɛnt, mɛrɛsin, ɛn avɔyd sɔm tin dɛm (trig).

- Dɛn nɔ go ebul fɔ stɔp dis, bɔt yu kin gɛt ɛp frɔm jenɛtik kɔyl.

- If yu gɛt dɛn simptom ya, fɔ tru fɔ go to dɔktɔ. Di rayt fɔ no di sik ɛn tritmɛnt plan rili impɔtant fɔ yu.

` Mayotonia, Myotonia, Mכsul stiffness, Jεnεtik sik dεm, Dystrophic Myotonia, Dystrophic Myotonia, Nכn-dystrophic Myotonia, Mכsul sik dεm