I tan lɛk se yu smɔl pikin nɔ gɛt layf? Lɛ wi lan bɔt dis (Congenital Muscular Dystrophy - CMD)!

Yu pikin we yu jɔs bɔn kin fil lɛk se i nɔ gɛt layf? Sɔntɛm di pikin in kray rili saf, ɛn in an ɛn fut dɛn nɔ de muf tumɔs? If yu notis sɔntin lɛk dis, yu fɔ wɔri smɔl. biכs i kin bi sayn fכ wan mכsul sik we nכ kin apin we dεn kכl `(Congenital Muscular Dystrophy)`, כ `(CMD)` fכ sכt, we de de we dεn bכn am.

Wetin na `(Kɔnjɛnital Mɔskul Dystrofi - CMD)`?

Fɔ tɔk am simpul wan, Congenital Muscular Dystrophy na wan grup fɔ sik dɛn we kin mek di mɔsul dɛn wik we kin bigin we dɛn bɔn am ɔ jɔs afta dɛn bɔn am. Di wɔd ‘kɔnjɛnital’ min ‘present frɔm we dɛn bɔn am’. Dis na krεse sik wae dεn kin gεt bεtεh, dat min se dεn kin pas am frכm jεnereshכn to jεnereshכn. Dis kin mek di mɔsul dɛn wik smɔl smɔl, ɛn ɔda sayn dɛn kin apin bak. Dis mɔsul wikɛdnɛs kin bɔku bak as tɛm de go.

Wetin na di men kayn `(CMD)`?

Naw lɛ wi si, difrɛn kayn dis `(CMD)` de. Dɔktɔ dɛn kin put dɛn kayn tin ya akɔdin to us jin dɛn kin afɛkt. Lɛ wi tɔk bɔt sɔm pan di men kayn dɛn:

• Laminin-alpha 2-related muscular dystrophies (LAMA2): Dis kin afɛkt bitwin 10% ɛn 37% pan pipul dɛm we gɛt CMD. Pikin dɛm wae gɛt dis sik nɔr kin ebul fɔ waka atɔl na di fɔs stej. Dɛn kin gɛt prɔblɛm bak fɔ tɔk bikɔs dɛn fes wik ɛn dɛn tɔŋ kin big (macroglossia). Na lɛk wan pat pan tri pikin dɛn kin gɛt sik we dɛn kɔl seizure.
• Dystroglycanopathies (DGPs): Dis kin apin bak pan 12% to 25% pan di kes dɛm. Apat frɔm we di mɔsul dɛn wik, dis kayn we kin afɛkt yu pikin in bren bak. Dis kin mek yu gɛt sik wae de mɛk yu nɔr de fil fayn, yu nɔr de mɛmba fayn fayn wan, ɛn yu gɛt prɔblɛm wit yu yay. Ɔda kayn dɛn we de na dis grup na Walker-Warburg syndrome, mɔsul-ay-bren sik, ɛn Fukuyama CMD (FCMD), we kin bɔku pas ɔl na Jepan.
• kolagen VI-rilayt mכskul distrofi dεm (COL6-RDs): Dis kin apin bak insay 12% to 19% pan di kes dεm. sכbtayp dεm de we de kכmכt frכm mild to siriכs, lεk Bεthlem mכskul distrofi, intamεdiεt COL6-RD, εn Ullrich kכnεnital mכskul distrofi (UCMD).
• sεlεnoprotein N-rεlatεd mayopathies (SEPN1-RM): Dis kin apin insay lεk 11% pan di kes dεm. i de sho se di mכsul dεm we de bigin fכ wik we de afekt di mכsul dεm na di ed εn di trכnk (dεn kכl am di akshal mכsul dεm). Dis kin mek yu nɔ ebul fɔ blo fayn kwik kwik wan.

Aw kɔmɔn dis `(CMD)` sityueshɔn?

Dis na rili sik we nɔ kin apin so ɔltɛm. Di wan dɛn we de stɔdi bɔt dis tɔk se i kin afɛkt bitwin 6 to 9 pikin dɛn pan wan milyɔn pikin dɛn ɔlsay na di wɔl.

Wetin na di sayn dɛm fɔ `(CMD)`?

Okay, so wetin na di simptom dɛm fɔ pikin we gɛt `(CMD)`? Di men wan na we di mɔsul dɛn wik. Yu kin si tin dɛn lɛk dis we yu bɔn yu ɔ sɔm dez afta yu bɔn yu:

• Hypotonia: Sɔm pipul dɛn kin kɔl dis bak ‘dɔl-layk’ kɔndishɔn. I kin tan lɛk se di an ɛn fut dɛn de hang dɔŋ.
• I nɔ kin izi fɔ mek yu shek yu an ɛn fut dɛn fɔ yusɛf.
• Di sawnd we pɔsin kin kray kin rili slo ɛn i kin wik.
• I at fɔ drink milk bikɔs i nɔ izi fɔ sok.
• di mכsul dεm εn di jכint dεm de stiff, di kכntrakt dεm.

jכs afta dεn bכn di pikin, di divεlכpmεnt fכ di pikin in gros mכtalman skil dεm (tin dεm we involv big mכsul dεm) na di sayn bak fכ CMD. Fɔ ɛgzampul, di delay we di nɛk de divɛlɔp, di delay fɔ rɔl oba, ɛn di delay fɔ sidɔm, nil dɔŋ, tinap, ɛn waka. Fɔ ɛgzampul, if yu pikin stil de tray tranga wan fɔ du dɛn tin dɛn de we ɔda pikin dɛn we gɛt di sem ej de rɔn, jomp, ɛn ple, dat na sɔntin we yu fɔ tink bɔt.

Di kayn we aw dis mɔsul wik kin difrɛn frɔm wan pikin to ɔda pikin. dipכnt pan di kayn `(CMD)`, yu pikin kin gεt כda simptom dεm bak lεk:

• Prɔblɛm wit yu yay: Fɔ ɛgzampul, yu kin si nia (mayopia), yu yay kin gɛt mɔ prɛshɔn (glaucoma).
• Di ɔpa aylid we de drɔp (ptosis).
• di bren abnכmaliti dεm: lεk lissencephaly (we de smol di bren sεf) כ sεribra malfכmeshכn (difכmiti dεm na di sεribεl).
• Di sik dɛn we kin mek pɔsin sik.
• Intɛlektual disabiliti.

Wetin na di poshubul komplikashɔn dɛm fɔ `(CMD)`?

Wetin na di poshubul komplikashɔn dɛm fɔ `(CMD)`? dis kin difrεnt bak dipכnt pan di kayn `(CMD)`. Bɔt in jɔnal, tin dɛn lɛk dis kin apin:

• Di prɔblɛm dɛn we kin mek dɛn ebul fɔ muv: Sɔm pikin dɛn nɔ kin ebul fɔ waka atɔl ɛn dɛn kin nid wilchia. Ɔda pipul dɛn kin nid tin dɛn we go ɛp dɛn lɛk ɔtpidik bres ɔ pɔsin we de waka fɔ ɛp dɛn fɔ waka.
• Kכmplikεshכn dεm we de kam pan di rεspiretכri: Wan kכmכn kכmplikεshכn fכ CMD na we di rεspiretכri fεil we de te. Dis kin kam bikɔs di mɔsul dɛm we de ɛp fɔ blo wik. Dis kin nid fɔ mek dɛn yuz mɛkanikal ventileshɔn (mashin fɔ blo). Dis kin mek yu gɛt tin dɛn lɛk atelektasis ɛn nyumonia.
• Kadyak kɔmplikeshɔn: Kadyomayopathy na wan kɔmɔn kɔmplikeshɔn fɔ CMD. Dis kin mek yu at pwɛl fɔ lɔng tɛm.
• Di kɔmplikɛshɔn dɛn we kin apin to di mɔskul ɛn skel:If yu nɔ ebul fɔ muv, dat kin mek yu gɛt skɔliosis, yu spayna kin kɔba, ɛn yu kin gɛt ɔstiopenia ɛn bon dɛn we kin brok. di prεshכn כlsa εn di jכyn kכntrakt (we di mכsul dεm εn di ligament dεm we de rawnd wan jכint de tayt) kin apin bak.
• Nyurolɔjik kɔmplikeshɔn dɛm: We yu liv wit sik we nɔr de dɔn, dat kin mek yu pikin gɛt pwɛl hat ɛn/ɔr wɔri.

Wetin mek dis `(Congenital Muscular Dystrophy)` kin apin?

Dis kin apin bikɔs ɔf di chenj dɛn we de apin na di jin dɛn. dis mכtεshכn dεm de apin na di jin dεm we de rispansabl fכ bil εn mεnten hεlty mכsul dεm na wi bכdi. biכs fכ dεn jεnεtik mכtεshכn ya, di sεl dεm we dεn fכ mεnten di pikin in mכsul dεm nכ de ebul fכ du dεn wok fayn fayn wan. Dis kin mek di mɔsul dɛn wik smɔl smɔl as tɛm de go.

Bɔku jin dɛn de we de ɛp fɔ mek di mɔsul dɛn wok, ɛn bɔku tin dɛn de we kin apin na di jɛnɛtiks. Na dat mek difrɛn kayn mɔskul distrofi ɛn CMD de.

כl di kes dεm fכ CMD de inhεrit insay wan כtosom rεsεsiv patεn. Fɔ tɔk am simpul wan, dis min se pikin kin gɛt wan chenj na in jɛnɛtiks we kin mek i gɛt di sik frɔm in mama ɛn papa ɔl tu. Dis min se dɛn mama ɛn papa ɔl tu kin bi di wan dɛn we gɛt di muteshon, bɔt dɛn nɔ kin sho di sayn dɛn. Bɔt if di pikin gɛt di mutation frɔm in mama ɛn papa ɔl tu, di sik go bigin.

sכm kes dεm fכ CMD kin apin fכ insεf, we min se di jin mכtεshכn kin apin randomly εn i nכ kin kכmכt frכm mama εn papa. Dɛn kɔl dis de novo muteshɔn.

Aw dɛn kin no se pɔsin gɛt CMD?

If yu pikin gɛt sɔm sayn dɛm fɔ Congenital Muscular Dystrophy (di men sayn na hypotonia), yu dɔktɔ go fɔs du in bɔdi ɛgzam, nyurolɔjik ɛgzam, ɛn mɔsul ɛgzam. Dɛn kin sɛn yu pikin bak to dɔktɔ we de mɛn pikin dɛn fɔ mek dɛn du mɔ dip tɛst.

If yu tink se yu gɛt wan sik we dɛn kɔl ``Congenital Muscular Dystrophy'', yu dɔktɔ kin tɛl yu fɔ du tɛst lɛk:

• kriaytin kinaz bכdi tεst: Na wan εnzym we dεn kכl kriaytin kinaz de kכmכt na di bכdi we di mכsul dεm dכn pwεl. So, if in lɛvɛl bɔku na di blɔd, i kin bi sayn fɔ sik we di mɔsul dɛn wik.
• Ilɛktromayografi (EMG): Dis tɛst de mɛzhɔ di ilɛktrik wok we yu pikin in mɔsul ɛn nɛv dɛn de du.
• Jεnεtik tεst dεm: sכm jεnεtik tεst dεm de we kin no di jεnεtik mכtεshכn dεm we gεt fכ mכsul distrofi. kכmprεhεnsiv jin panεl dεm kin kכnfכm di spεsifi k tכp CMD insay lεk 60% pan di kes dεm.
• Mɔsul bayɔpsi: .Di dɔktɔ kin tek smɔl sampul pan yu pikin in mɔsul. Dɔn wan spɛshal dɔktɔ go luk am ɔnda maykroskɔp fɔ chɛk fɔ si if i gɛt sayn dɛn we de sho se di mɔsul dɛn nɔ de wok fayn.
• Echocardiogram and Electrocardiogram (EKG): Dɛn tɛst ya kin chɛk fɔ si if di sik (CMD) dɔn afɛkt yu pikin in at mɔsul.
• Bren MRI scan: If i pɔsibul, yu dɔktɔ kin tɛl yu fɔ du Bren MRI. Bɔrku kayn CMD kin gɛt fɔ du wit sɔm patikyula abnɔmal tin dɛm na difrɛn pat dɛm na di bren.

Dɛn tɛst ya kin tan lɛk bɔku tin to yu. We yu wach yu smɔl pikin we dɛn de du dɛn tɛst ya, dat kin rili mek yu fil pen. Bɔt wetin yu fɔ no na dat dɔktɔ dɛn want fɔ gi yu pikin di rayt diagnosis ɛn di bɛst tritmɛnt we pɔsin kin gɛt. di simptom dεm fכ CMD kin tan lεk di wan dεm fכ כda sik dεm, lεk sכm myopathies (mכsul dεm dizכrd), εn כda mεtabolik kכndishכn dεm, lεk glycogen stכrej sik dεm εn mitochondrial sik dεm. So, i rili impɔtant fɔ gɛt kɔrɛkt diagnosis.

Wetin na di tritmɛnt dɛm fɔ `(CMD)`?

Naw, no mɛrɛsin nɔ de fɔ dis sik (Congenital Muscular Dystrophy). Bɔt di wan dɛn we de stɔdi bɔt dis de kɔntinyu fɔ tray fɔ fɛn di mɛrɛsin.

Di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu pikin in layf bɛtɛ. Di tritmɛnt opshɔn dɛn kin difrɛn dipen pan di kayn CMD. Dɛn tin ya kin bi:

• Fizik tritmɛnt ɛn wok tɛrapi: Di ​​men gol fɔ dɛn tritmɛnt ya na fɔ mek yu pikin in mɔsul dɛn strɔng ɛn strɛch, we kin ɛp fɔ mek i ebul fɔ muv.
• Kɔtikosterɔyd: Kɔtikosterɔyd, lɛk prednisolone ɛn deflazacort, kin ɛp fɔ mek di mɔsul dɛn wik, i kin mek di lɔng dɛn wok fayn, i kin mek di skɔliosis slo, i kin mek di kadyomayopathy nɔ go bifo, ɛn i kin mek i liv lɔng.
• Di tin dɛn we de ɛp yu fɔ muv: Divays dɛn lɛk ken, bres, waka, ɛn wilchia kin ɛp yu pikin fɔ go rawnd ɛn ɛp fɔ protɛkt am fɔ mek i nɔ fɔdɔm.
• Ɔpreshɔn: Yu pikin kin nid ɔpreshɔn fɔ mek i nɔ gɛt prɛshɔn pan di tayt mɔsul dɛn ɛn fɔ kɔrɛkt di kɔba we di spayna de kɔba (scoliosis).
• Fɔ kia fɔ yu at: If yu trit yu at kwik kwik wan wit mɛrɛsin lɛk ACE inhibitors ɛn/ɔ beta-blockers, dat kin mek di kadyomayopathy nɔ go bifo kwik kwik wan ɛn i kin mek di at nɔ wok fayn. Divays dɛm we dɛn kɔl pesmɛka kin ɛp bak fɔ trit prɔblɛm wit di at ritm ɛn di at we nɔ de wok fayn.
• Spich therapy: Dis kin ɛp pikin dɛm wae gɛt prɔblɛm fɔ tɔk ɛn/ɔ fɔ swɛla.
• Di kia fɔ di we aw yu de blo: Di tin dɛn we de ɛp yu fɔ kɔf ɛn di tin dɛn we yu de yuz fɔ blo kin ɛp fɔ mek yu ebul fɔ blo. If yu nɔ ebul fɔ blo fayn, i kin nid fɔ du tracheostomy (fɔ put tiub tru wan ol na di nɛk fɔ ɛp fɔ blo) ɛn ɛp fɔ mek yu blo.

Yu pikin kin ebul bak fɔ tek pat pan klinik trial fɔ CMD. Tɔk to yu pikin in mɛdikal tim fɔ si if dis na opshɔn fɔ yu.

Medikal tim we de trit `(CMD)`

Sɔntɛm wan tim we gɛt spɛshal pipul dɛn ɛn wɛlbɔdi wokman dɛn de we de wok fɔ manej yu pikin in kɔndishɔn (CMD). Dɛn tin ya kin bi spɛshal pipul dɛn lɛk:

• Di dɔktɔ dɛn we de mɛn pikin dɛn
• Di wan dɛn we de stɔdi bɔt nyurolɔji fɔ pikin dɛn
• Pikin dɛn we de mɛn dɛn bɔdi (Fizik Mɛdisin ɛn Rihabiliteshɔn Spɛshal) .
• Di wan dɛn we de stɔdi bɔt di jɛnɛtiks
• Ɔtopɛdist dɛn we de mɛn pikin dɛn
• Pikin dɛn we de mɛn fizik
• Pikin ɔkupeshɔn tɛrapist dɛn
• Pikin dɛn we de stɔdi bɔt aw pɔsin de tɔk ɛn langwej
• Pikin dɛn we de mɛn dɛn at
• Di wan dɛn we de mɛn pikin dɛn pulmonɔlɔjis
• Di wan dɛn we de stɔdi bɔt pikin dɛn maynd
• Soshal woka dɛn

Wetin go bi di fiuja fɔ pikin we gɛt `(CMD)`?

I at fɔ mek di wan dɛn we de du risach ɛn dɔktɔ dɛn tɔk bɔt di tumara bambay (we wi kɔl di prɔgnosis) fɔ pikin we gɛt Congenital Muscular Dystrophy. Yu pikin in mɛdikal tim go gi yu bɔku infɔmeshɔn bɔt wetin fɔ ɛkspɛkt we yu pikin de na dɛn kia.

in jεnarכl, di mכsul dεm we dεn bכn wit kin bכku εn divεlכp kwik pas di mכsul dεm we de bigin let we dεn bכn כ we dεn bכn.

di layf we pikin dεm we gεt di mכsul dεm we dεn bכn wit de liv de dipכnt pan aw di kכndyushכn de wכs kwik εn us mכsul dεm de afekt. Di men tin wae kin mek pɔrsin day bikɔs ɔf dɛn kayn tin ya na di prɔblɛm dɛm wae kin kam pan pɔrsin wae de blo ɔr di at wae kin kam bikɔs di mɔsul dɛn wik.

Yu tink se yu kin avɔyd `(CMD)`?

Bikɔs Congenital Muscular Dystrophy na wan sik we yu kin gɛt frɔm yu jɛnɛtiks, natin nɔ de we yu go du fɔ mek yu nɔ gɛt am lɛk aw i de naw.

Bifo yu tray fɔ bɔn pikin, if yu de wɔri bɔt fɔ pas pɔsin we gɛt mɔsul distrofi ɔ ɔda sik dɛn we de kɔmɔt frɔm yu jɛnɛtiks, .Tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks. Sɔntɛnde, we dɛn du tɛst bifo dɛn bɔn pikin ali we uman gɛt bɛlɛ, dat kin ɛp fɔ no di sik.

Aw a go ɛp mi pikin wit `(CMD)`?

If yu pikin gɛt Congenital Muscular Dystrophy, i impɔtant fɔ mek yu advatayz fɔ mek shɔ se dɛn gɛt di bɛst mɛrɛsin ɛn bɔku tritmɛnt savis dɛn. If yu advatayz fɔ mek dɛn kia fɔ dɛn da kayn we de, yu go ɛp dɛn fɔ gɛt di bɛst kwaliti fɔ liv.

Yu ɛn yu famili kin tink bak fɔ jɔyn sɔpɔt grup usay yu go mit pipul dɛn we dɔn go tru di sem kayn ɛkspiriɛns. Ples dɛm lɛk dis kin gi yu maynd trɛnk, nyu infɔmeshɔn, ɛn bɔku tin fɔ lan frɔm ɔda pipul dɛm ɛkspiriɛns.

Ustɛm mi pikin we gɛt `(CMD)` fɔ si dɔktɔ?

If yu pikin gɛt CMD, dɛn fɔ mit wit dɛn mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach aw dɛn de fil. Nɔ mis fɔ fala-ap apɔntinmɛnt lɛk aw yu dɔktɔ se.

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

We dɛn no se yu pikin gɛt CMD, i go fayn fɔ aks dɛn kwɛstyɔn ya:

• Us kayn `(CMD)` mi pikin gɛt?
• Us tritmɛnt yu kin advays?
• Wetin na di kɔmplit list fɔ spɛshal pipul dɛn we mi pikin fɔ si?
• Yu kin kɔntinyu fɔ tɔk to ɔda spɛshal pipul dɛn?
• Wetin a go du na os fɔ mek mi pikin gɛt bɛtɛ layf? (e.g. ɛksesaiz, it)
• Eni nyu risach de pan `(CMD)`?
• Ɛni nyu klinik trial de fɔ CMD we mi pikin kin ebul fɔ gɛt?
• Yu kin rɛkɔmɛnd wan sɔpɔt grup?

Di tin dɛn we impɔtant pas ɔl we wi want fɔ kɛr go na os frɔm dis stori na

Na nɔmal tin fɔ fil bad ɛn wɔri we dɛn no se yu pikin gɛt Congenital Muscular Dystrophy (CMD). Bɔt mɛmba se, yu pikin in mɛdikal tim go gi yu wan strɔng, pɔsnalayz manejmɛnt plan. I impɔtant fɔ mek shɔ se yu, yu pikin, ɛn yu famili gɛt di sɔpɔt we dɛn nid, ɛn fɔ de pe atɛnshɔn pan yu pikin in wɛlbɔdi. Yu pikin in mɛdikal tim de ya fɔ ɛp yu, yu pikin, ɛn yu famili fɔ du ɛvri step na di rod. Nɔ wɔri, nɔto yu wan de.

` Congenital Muscular Dystrophy, CMD, mכsul wik, jεnεtik sik, pikin sik, haypotonia, mכsul west, pikin hεlth