Yu tink se di mɔsul dɛn na yu bɔdi de dans? Dɛn kin muf lɛk wef? Lɛ wi lan bɔt Rippling Muscle Disease!

Yu dɔn ɛva si ɔ fil se yu mɔsul dɛn de shek shek wantɛm wantɛm, lɛk se dɛn de go insay wef, ɔ dɛn ɔl dɔn gɛda togɛda? Sɔntɛnde yu kin tink se na jɔs ɔda tin, bɔt i kin rili bi sayn fɔ wan sik we nɔ kin bɔku bɔt we impɔtant fɔ no bɔt. Na dat wi go tɔk bɔt tide, Rippling Muscle Disease . Nɔ wɔri, lɛ wi kip am simpul.

Wetin na Rippling Muscle Disease?

Fɔ tɔk am simpul wan, Rippling Muscle Disease na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt wi nervɔs sistɛm ɛn mɔsul dɛm. Dɔktɔ dɛn kin kɔl am bak nyuromɔskular disɔda . Insay dis, wi mɔsul dɛn kin kɔntrakt bɔku tɛm ɛn wi nɔ kin ebul fɔ kɔntrol am, ɛn dis kin mek dɛn stif ɛn sɔntɛnde dɛn kin gro pasmak, we dɛn kɔl hypertrophy .

Dɛn sayn ya kin bigin wae yu smɔl ɔr yu smɔl, bɔt i impɔtant fɔ mɛmba se sɔmtɛm dis sik kin apia pan ɛni ej.

Wetin na di sayn dɛm fɔ dis sik? Wetin rili de apin?

As di nem sho, Rippling Muscle Disease kin mɔs afɛkt wi mɔsul dɛm, mɔ di mɔsul dɛm we de nia di midul pan wi bɔdi (proximal muscles) . Mɔ spesifik wan, di mɔsul dɛn na wi shɔl (kwadrisɛps) kin afɛkt mɔ.

if yu gεt (RMD), i min se yu mכsul dεm de "excitable" כ "rapidly excitable." Dis min se yu mɔsul dɛn nɔ de du tin we nɔmal we ivin we yu tɔch yu ɔ prɛs yu smɔl.

De sayn dɛm wae kin kam pan dis sik na:

• mכsul mכund: fכ bi prεsis, yu mכsul mas de gεt togeda na wan ples εn i de bi lεk "maund".
• Ripititiv mכsul tεns: Dis kin las fכ lεk 30 sεkכnd.

Dɛn tu sayn ya kin apin we sɔntin nak yu shɔl wantɛm wantɛm, lɛk we yu bang sɔntin. Fɔ ɛgzampul, if yu bang domɔt, yu shɔl mɔsul kin tayt ɛn stif wantɛm wantɛm.

Na lɛk 60% pan di pipul dɛn we gɛt RMD kin gɛt mɔsul dɛn we de twitch. dis na we di mכsul de twitch we de lεk wom we de kray כnda di skin. Dis kin las fɔ lɛk 5 to 20 sɛkɔn. Dis kin apin mɔ we yu strɛch wan mɔsul.

Ɔda sayn dɛm wae yu kin si na:

• Taya: Nɔto jɔs taya, bɔt taya pasmak we nɔ gɛt rizin.
• Mɔsul dɛn we de kramp: Na wan we we di mɔsul dɛn kin spam wantɛm wantɛm ɛn we kin mek pɔsin fil bad bad wan.
• Di mɔsul dɛn we stif: .I kin fil se i nɔ izi fɔ bɛn ɔ pul di mit.

Dɛn sayn ya kin wɔs afta yu dɔn du ɛksɛsayz tranga wan ɔ yu dɔn gɛt kol. pan sɔm pipul dεm, sכm pan di mכsul dεm kin big abnכmal (hypertrophy) εn di we aw dεn de waka kin chenj sכmtεm (atypical gait) .

Dis sik de mek pɔsin fil pen?

Yes, (Rippling Muscle Disease) kin mek yu mɔsul dɛn fil pen. Ɛspɛshali we di mɔsul de kɔntinyu fɔ kɔntrakt, di pen kin mɔna if i de fɔ sɔm tɛm. Dɔn bak, we di mɔsul de rɔl (kramp) pen kin apin. Imajin aw i go tranga if wan mɔsul na yu leg tayt ɔltɛm.

Wetin kin mek pɔsin gɛt Rippling Muscle Disease?

Bɔku tɛm, di sik we dɛn kɔl Rippling Muscle Disease kin kam bikɔs ɔf di chenj dɛn we de apin na wan jin we dɛn kɔl CAV3, we wi kin gɛt frɔm wi mama ɛn papa. di CAV3 jin de tεl wi bכdi fכ mek wan protin we dεn kכl caveolin-3 . dis protin de fכn insay di mεmbran we de rawnd di mכsul sεl dεm. Risach pipul dɛn biliv bak se dis prɔtin de ɛp fɔ kɔntrol di kalsiɔm lɛvɛl, we de ɛp di mɔsul dɛn fɔ kɔntrakt ɛn strɛch.

pan pipul dεm we gεt RMD, wan mכtεshכn na di CAV3 jin de mek di prodakshכn fכ di protin caveolin-3 dכn. Risach pipul dεm biliv se dis protin dεm we de dכn de mek di kalsiכm lεvεl dεm na di mכsul sεl dεm nכ de rεgεl fayn fayn wan. Dis kin mek di mɔsul dɛn kin kɔntrakt nɔmal wan we dɛn push ɔ pul smɔl.

difrεn kayn mכtεshכn dεm de insay dis (CAV3) jin. di sik dεm we de fכ di mit gland dεm we dεn jin mכtεshכn ya kin kכz dεn kכl dεm (caveolinopathies) . Apat frɔm (RMD), sɔm ɔda sik dɛn we de insay dis grup na:

• (Autosomal dominant limb-girdle muscular dystrophy) (dεn bin kכl am LGMD1C)
• (Hypertrophic cardiomyopathy) (Dis na at sik) .
• (Isolated hyperCKemia) (Na wan kכndyushכn we di εnzym kriaytin kinaz na di bכdi de εlevεt)
• (CAV3-related distal myopathy) (na sik we de afekt di mכsul dεm na di distal εkstrimiti dεm)

pan dεn kכndyushכn dεm ya, sכmtεm dεn kin si sayn dεm lεk mכsul dεm we de kכntrakt, lεk wrinkles, na di RMD.

Dɔn bak, dɛn dɔn ripɔt wan ɔtoimyun fɔm fɔ Rippling Muscle Disease, we kin apin wit di ɔtoimyun sik we dɛn kɔl Myasthenia gravis . Dɛn pipul dɛn de nɔ gɛt di CAV3 jin muteshon. Dat min se dɛn yon imyun sistɛm de atak di mɔsul fayv dɛn.

Aw wi kin gɛt dis (Rippling Muscle Disease)?

Bɔrku tɛm, Rippling Muscle Disease de inhɛrit insay wan ɔtosomal dominant patɛn . Fɔ tɔk am simpul wan, dis min se yu kin gɛt di sik if yu gɛt wan kɔpi fɔ di CAV3 jin we dɛn dɔn chenj frɔm yu mama ɔ papa. I kin apin ivin if na wan jin nɔmɔ yu gɛt.

insay rare kes dεm, RMD kin inhεrit insay wan כtosom rεsεsiv patεn . dis min se yu nid fכ gεt tu kכpi dεm fכ di כltεr CAV3 jin, frכm yu mama εn papa.

Pipul dεm wae gεt Rippling Muscle Disease in di autosomal recessive fכm kin gεt sכmtεm siriכs simptom dεm pas dεn wan dεm we gεt am na di autosomal dominant fכm.

Na smɔl tɛm nɔmɔ, RMD kin apin bak bikɔs ɔf nyu muteshon, we nɔ gɛt ɛni famili histri. Dis min se dis jenɛtik dɛfɛkt kin kam na pɔsin in bɔdi fɔ di fɔs tɛm, we nɔ gɛt frɔm in mama ɛn papa.

Aw dɔktɔ dɛn kin no di sik we dɛn kɔl Rippling Muscle Disease kɔrɛkt wan?

Dɔktɔ dɛn kin yuz dɛn tɛst ɛn tin ya fɔ no if pɔsin gɛt Rippling Muscle Disease, bɔt nɔto ɔlman nid fɔ du ɔl dɛn tin ya.

• Mɛdikal histri: Di ​​dɔktɔ go aks bɔt yu sik ɛn if ɛnibɔdi na yu famili dɔn gɛt RMD ɔ ɔda keveolinopathies.
• Ɛgzam fɔ yu bɔdi ɛn yu nyurolɔjik: Di dɔktɔ go chɛk aw yu mɔsul dɛn de ɛn aw yu nerv de wok.
• kriaytin kinaz bכdi tεst: we di mכsul tisu dεm dכn pwεl, dis εnzym (kriaytin kinaz) de inkrεs na di bכdi.
• ilektromayografi (EMG): Dis de tεst di ilektrikal aktiviti fכ di mכsul fayb dεm.
• Muscle biopsy: Dɛn kin tek wan smɔl pat pan di mɔsul ɛn chɛk am ɔnda maykroskɔp.
• Antibodi tεst: dεn kin du dεn tεst ya fכ si if di (RMD) na כtoimyun.
• jεnεtik tεst: Dis na di bεst we fכ no if εni chenj de na di (CAV3) jin.

Dɛn tɛst ya kin ɛp fɔ pul ɔda sik dɛn we gɛt di sem kayn sik ɛn kɔnfɔm Rippling Muscle Disease.

We dɛn de no di sik, yu dɔktɔ kin sɛn yu to spɛshal dɔktɔ, lɛk dɔktɔ we de mɛn yu nyuro ɔ dɔktɔ we de mɛn yu jɛnɛtiks .

Wetin na di tritmɛnt dɛm fɔ dis?

Di tritmɛnt fɔ Rippling Muscle Disease dipen pan if na jɛnɛtik ɔ ɔtoimyun.

Jɛnɛtik tritmɛnt: .

Dis kin min mɔ fɔ kɔntrol di sayn dɛm ɛn fɔ rifer to jenɛtik kɔyl . If di tɛstikul dɛn we de rɔl ɔ shrink rili bad, sɔm mɛrɛsin dɛn kin ɛp. Dɛn kayn mɛrɛsin ya na:

• (Dantrolene): Dis na tin we de mek di mɔsul dɛn rilaks.
• (Kalsiɔm chanɛl antagonist dɛn):Dis na mεdikeshכn dεm we de blכk di kalsiכm chεnal dεm.
• Benzodiazepines: Dɛn tin ya kin mek di mɔsul dɛn rilaks ɛn nɔ kin mek pɔsin wɔri.

Ɔtoimyun tritmɛnt: .

Dɛn kin trit dis wit immunosuppressive therapy , ɔ if yu gɛt taymoma (wan tumbu na di taymus gland), dɛn kin du ɔpreshɔn fɔ pul di taymus gland (thymectomy) .

Wi kin mek dis (Rippling Muscle Disease) nɔ kam?

Bikɔs Rippling Muscle Disease kin bi jɛnɛtiks, natin nɔr rili de we wi kin du fɔ mek wi nɔr gɛt am. I nɔto sɔntin we wi go ebul fɔ kɔntrol.

Bɔt if yu de wɔri bɔt di risk fɔ pas RMD ɔ ɔda jɛnɛtik sik to yu pikin bifo yu bɔn pikin, i rili impɔtant fɔ tɔk to yu dɔktɔ bɔt jenɛtik kɔyl so dat yu go ɔndastand klia wan.

Ustɛm a fɔ go to dɔktɔ?

• If yu RMD simptom dɛn de wɔs , ɔ if dɛn kin apin mɔ , mek shɔ se yu tɔk to yu dɔktɔ.
• If dɛn nɔ tu te yet we dɛn dɔn no se pɔsin na yu famili gɛt Rippling Muscle Disease, aks yu dɔktɔ if yu ɔ ɔda pipul dɛn na yu famili de pan denja fɔ gɛt dis sik.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Yu go si se i go fayn fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya:

• Wetin a kin du fɔ kɔntrol mi sik dɛn?
• Us tritmɛnt we bɛtɛ fɔ mi?
• Mi pikin dɛn kin gɛt Rippling Muscle Disease frɔm mi?
• Yu tink se dɛn fɔ tɛst ɔda pipul dɛn na mi famili fɔ si if dɛn gɛt Rippling Muscle Disease?

We yu aks dɛn kwɛstyɔn ya, yu go ebul fɔ ɔndastand dis tin we de apin.

Rippling Muscle Disease kin afɛkt di at?

Rippling Muscle Disease nɔ de afɛkt di at dairekt wan. כltu, כl tu di RMD εn haypatrכfik kadyomayopathy de kכz bay mכtεshכn dεm na di sem jin (CAV3), so wan link de bitwin di tu sik dεm. pan ɔl we i nɔ kin apin so ɔltɛm, di mכtεshכn dεm na di CAV3 jin kin afekt כl tu di at mכsul εn כda mכsul tisu dεm na di bכdi. Bɔt i nɔ kin apin so ɔltɛm.

Yu tink se (Rippling Muscle Disease) de kil pɔsin?

Rippling Muscle Disease insɛf nɔ de kil pɔsin. Dat min se i nɔ de mek pɔsin in layf de pan denja. כltu, di simptom dεm fכ (RMD) lεk mכsul dεm we de kכntrikshכn lεk wrinkles kin bi bak wan simptom fכ כda sik dεm (caveolinopathies) we di jin mכtεshכn dεm we wi bin dכn tכk bכt (CAV3) kin kכz.

pan di caveolinopathies, siriכs kes dεm fכ כtosomal dominant limb-girdle muscular dystrophy εn hypertrophic cardiomyopathy kin bi sכmtεm we de mek yu layf de pan denja.

Na nɔmal tin fɔ fil bad we dɛn no se yu gɛt wan sik we yu gɛt frɔm yu jɛnɛtiks, mɔ di wan we nɔ kin apin so ɔltɛm. Bɔt mɛmba se yu mɛdikal tim go de fɔ ɛksplen to yu Rippling Muscle Disease, tɛl yu aw e go afɛkt yu, ɛn ɛp yu fɔ fɛn di bɛst we fɔ kɔntrol yu sik dɛn.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Okay, so naw yu gɛt sɔm ɔndastandin bɔt wetin wi bin de tɔk bɔt (Rippling Muscle Disease). Fɔ sɔmtin:

• Rippling Muscle Disease na wan sik wae nɔr kin bɔrku pan di mɔsul dɛm wae kin mek yu mɔsul dɛn de shek shek, yu kin rɔtin, yu kin stif, ɛn yu kin kɔl.
• bכku tεm, dis kin kכz fכ jεnεtik kכz (CAV3 jin) . Sɔntɛnde, i kin gɛt ɔtoimyun kɔz dɛn bak.
• Dis nɔto sik we de kil pɔsin . Bɔt sɔm pan di ɔda caveolinopathies wae gɛt fɔ du wit am kin tranga.
• If yu gɛt dɛn sik ya, nɔ panik ɛn go to dɔktɔ . Di tin we impɔtant pas ɔl na fɔ gɛt kɔrɛkt diagnosis ɛn gɛt di tritmɛnt ɛn advays we yu nid.
• Jɛnɛtik kɔyl kin rili yusful pan tin dɛn lɛk dis.

If yu want fɔ no mɔ bɔt dis, ɔ if yu tink se yu gɛt dɛn sik ya, duya go to dɔktɔ. Nɔ fred, sɔlv de fɔ ɔltin.

` Rippling Muscle Disease, muscle twitching, muscle contraction, CAV3 jin, mכsul pen, jεnεtik sik dεm, כtoimyun sik dεm