Yu kin wɔri bak bɔt aw yu yaylid ɛn yu trot kin wik? Lɛ wi tɔk bɔt OPMD (Oculopharyngeal Muscular Dystrophy) .

Yu dɔn ɛva fil lɛk se yu yaylid dɛn de ebi smɔl, ɛn i nɔ izi fɔ opin dɛn fayn fayn wan? Ɔ yu kin gɛt smɔl prɔblɛm fɔ swɛla, ɔ yu kin fil lɛk se sɔntin dɔn stɔp na yu trot? Sɔntɛnde, dɛn tin ya kin bi nɔmal tin dɛn we kin kam wit di ej. Bɔt sɔm tɛm dɛn we nɔ kin apin so ɔltɛm, dɛn tin ya kin bi sayn dɛn bak fɔ wan jɛnɛtik kɔndishɔn we dɛn kɔl Oculopharyngeal Muscular Dystrophy (OPMD) . Nɔ wɔri, tide wi go tɔk bɔt wetin na OPMD, aw i kin kam, wetin na di sayn dɛm, ɛn if tritmɛnt de.

Wetin na OPMD (Oculopharyngeal Muscular Dystrophy) we dɛn kɔl OPMD? Lɛ wi ɔndastand am simpul wan.

Fɔ tɔk am simpul wan, Oculopharyngeal Muscular Dystrophy (OPMD) na wan sik we nɔ kin apin so ɔltɛm. Wetin kin apin pan dis na dat sɔm pan di mɔsul dɛn na wi bɔdi kin wik smɔl smɔl. Imajin, pan ɔl we di chenj na di jɛnɛtiks we de mek wi gɛt dis sik na sɔntin we dɛn bɔn wi wit, bɔku tɛm di sayn dɛn kin bigin fɔ sho we wi ol, dat na lɛk 40 ɔ 50 ia. Dis OPMD de pan di grup we de mek di mɔsul dɛn wik we dɛn kɔl Muscular Dystrophy . Dis na sik dεm we dεn kin pas frכm jεnereshכn to jεnereshכn, dat min se dεn kin pas tru jin dεm. Dɛn kɔl OPMD "Oculopharyngeal", ɛn i kin mɔs afɛkt wi:

• Ocular - dat na di mכsul dεm we de rawnd di yay dεm.
• Pharyngeal - Dis de tכk bכt di mכsul dεm na di trot we de εp wi fכ sכlow it εn tכk.

Dɛn sayn ya kin kam smɔl smɔl, we min se dɛn kin de go bifo . Bɔt di gud nyus na dat, bɔku tɛm, dɛn sik ya kin kam smɔl smɔl. So nid nɔ de fɔ wɔri.

Aw OPMD kɔmɔn? Udat go mɔs gɛt am?

Infakt, nɔr ɛksaktɔl statystik nɔr de fɔ ɔmɔs pipul dɛm na di wɔl gɛt OPMD. Bɔt masta sabi bukman dɛn se na bitwin 3,000 ɛn 30,000 pipul dɛn na Amɛrika nɔmɔ kin gɛt dis sik. Dis min se na sik we nɔ kin bɔku. Pan ɔl we OPMD kin kam pan ɛnibɔdi, i kin bɔku pan sɔm grup dɛn pan pipul dɛn. Fɔ ɛgzampul:

• Na di Bukharan Ju pipul dɛn na Izrɛl (lɛk wan pan ɛvri 700 pipul dɛn).
• Na di pipul dɛn we kɔmɔt na Frɛnch ɛn Kanada we de na di provins we nem Kwibɛk, insay Kanada (lɛk wan pan ɛvri 1,000 pipul dɛn).

Pan ɔl we no klia data nɔ de bɔt dis sityueshɔn na Sri Lanka, i impɔtant fɔ go to dɔktɔ if yu gɛt sayn dɛn lɛk dis.

Wetin na di sayn dɛm fɔ OPMD? Aw dɛn kin no se i gɛt am?

As wi bin dɔn tɔk bifo tɛm, OPMD kin mɔs afɛkt yu yay ɛn yu trot. So, we yu wik na yu yaylid ɛn yu trot mɔsul dɛn, dat kin mek yu gɛt sɔm sayn dɛn lɛk dis:

• di aylid dεm we de dכp ( Ptosis ) : di aylid dεm de sho se dεn hεvi εn dεn nכ kin opin dεm fayn fayn wan. Sɔntɛnde, i kin mek i nɔ ebul fɔ si fayn.
• ItDifikulti fɔ swɛla ( Dysphagia ): Na filin fɔ gɛt lump na yu trot ɔ i nɔ izi fɔ swɛla we yu de swɛla it ɔ drink. Dis na di men ɛn sɔm kayn prɔblɛm wae de mɔna pipul dɛm wae dɛn kin si pan OPMD.
• Disfonia : Yu vɔys kin chenj, yu kin ala, ɔ i nɔ kin izi fɔ tɔk klia wan.
• Dabl vishɔn (Diplopia) : Wan tin kin tan lɛk tu.
• Fes mɔsul wik : Di mɔsul dɛm we de kɔntrol di we aw pɔsin de fil kin wik.
• Yu nɔ de si fayn ɛn yu nɔ de muv yu yay : I kin tranga fɔ tɔn yu yay ɛn luk ɔp.
• di tכng mכsul dεm we wik כ atrofi : Dis kin mek tin dεm lεk we yu nכ ebul fכ yuz di tכng fayn εn i kin at fכ muv it rawnd na di mכt.

apat frכm dεn simptom ya, pipul dεm we gεt OPMD kin gεt wik na di mכsul dεm na di midul pat na di bכdi (we wi kכl proksimal mכsul dεm ). Speshal wan:

• Hip eria
• Sholda dɛn
• Ɔpa shɔl

We dɛn mɔsul ya wik, i kin at fɔ waka. Sɔm pipul dɛn kin nid fɔ yuz tik ɔ tin fɔ waka . Na lɛk 1 pan ɛvri 10 pipul dɛn we gɛt OPMD kin nid wilchia .

Wetin fɔ du if di sayn dɛn kam bifo tɛm pas aw dɛn bin de tink?

Na smɔl tɛm nɔmɔ, sɔm pipul dɛn kin gɛt wan siriɔs kayn OPMD. Dis na we di mɔsul dɛn kin wik bad bad wan bifo dɛn ol 45. Insay dɛn kayn tin ya, i kin izi fɔ mek pipul dɛn nɔ ebul fɔ waka fɔ dɛnsɛf we dɛn ol 60. Apat frɔm dat, dɛn kin gɛt:

• Pwɛl at
• Delusions (we tan lɛk tin dɛn we nɔto rial) .
• Di kɔgnitiv dɛklin
• Prɔblɛm dɛn we gɛt fɔ du wit di nerve (Nyuropathy) .

Dis kayn tin nɔ kin apin so ɔltɛm, bɔt i fayn fɔ no, nɔto so?

Wetin kin mek pɔsin gɛt OPMD?

OPMD na wan sik we de mek pɔsin gɛt jɛnɛtiks . Dis min se na bikɔs ɔf wan chenj we de apin na wi jin dɛn we dɛn bɔn wi. di jεnεtik mכtεshכn we de mek OPMD de apin insay di PABPN1 jin . Dis PABPN1Wi kin gɛt di jenɛtik mutation frɔm wi mama, papa, ɔ ɔl tu. Bɔrku tɛm, wan pan de mama ɛn papa fɔ pɔrsin wae gɛt OPMD kin gɛt OPMD. Tink bɔt am, bɔku pan wi jin dɛn kin kam tu tu. so, wi gεt tu kכpi dεm bak fכ dis PABPN1 jin insay wi DNA. fכ divεlכp OPMD, i inof fכ gεt da jεnεtik mכtεshכn de insay wan kכpi nכmכ fכ dis PABPN1 jin. כltu, sכm pipul kin gεt dis jεnεtik mכtεshכn insay di tu kכpi dεm fכ di PABPN1 jin. Na dɛn kayn pipul ya, di OPMD simptom kin ɔltɛm tranga smɔl ɛn i kin apin kwik.

Aw yu go no fɔ tru if yu gɛt OPMD? (Diagnosis) .

If yu gɛt sayn dɛm fɔ OPMD, yu dɔktɔ go fɔs no yu bay di sayn dɛm we yu gɛt. Dɔn, dɛn go du wan blɔd tɛst fɔ no if pɔsin gɛt di sik. dis go luk fכ wan mכtεshכn na di PABPN1 jin. Apat frɔm dat, yu dɔktɔ kin du dɛn tɛst ya bak:

• Electromyograms (EMG) : Dis tεst de luk aw yu mכsul dεm de ansa to di nerve signal dεm. dis kin inklud nεv kכndukshכn stכdi εn nidul εlektrod egzamin .
• di mכsul bayopsi : Dis involv fכ tek sכm sכm sכm mכsul tisu εn tεst am. dis mכsul bayopsi kin εp fכ no di PABPN1 jin mכtεshכn if di bכdi tεst n כ klia.
• Tɛst fɔ swɛla : If i nɔ izi fɔ yu fɔ swɛla ( dysphagia ), dɛn tɛst ya kin luk fɔ prɔblɛm wit di mɔsul dɛn na yu trot fɔ no di kɔz.

Wetin na di tritmɛnt dɛm fɔ OPMD?

Di tritmɛnt fɔ OPMD kin difrɛn difrɛn wan bay di sayn dɛm wae yu gɛt ɛn aw dɛn kin tranga. Nɔ wɔri, sɔm tritmɛnt dɛn de wae kin ɛp fɔ kɔntrol yu sik.

• Ɔkupeshɔn ɔr fyzikal tritmɛnt : Wae yu woke wit pɔrsin wae de mɛn yu kin ɛp yu fɔ gɛt trɛnk ɛn du tin dɛm wae yu kin du ɛvride. If yu gɛt prɔblɛm fɔ waka bikɔs yu mɔsul dɛn wik, yu dɔktɔ kin tɛl yu fɔ yuz tin dɛn lɛk ken , leg bres, ɔ tin fɔ waka .
• Speech therapy : Wan dɔktɔ we de mɛn pipul dɛn we de tɔk ɛn langwej kin ɛp yu wit prɔblɛm dɛn we OPMD kin kam wit we yu de swɛla ɛn we yu de tɔk. Di prɔblɛm fɔ swɛla kin ridyus bay tin dɛn lɛk fɔ it wit smɔl mɔt, chenj di we aw yu de ol yu ed, ɔ chenj di we aw yu de it.
• Botulinum toxin injection : Dɔktɔ de injekt botulinum toxin insay wan mɔsul we de ɔp yu trot.Yu kin gɛt injɛkshɔn. Dis kin mek di mɔsul rilaks fɔ sɔm tɛm, ɛn dis kin mek i izi fɔ yu fɔ swɛla. Bɔt fɔ mek yu kɔntinyu fɔ gɛt dɛn rizɔlt ya, yu go nid fɔ gɛt dis injɛkshɔn ɛvri sɔm mɔnt.
• Blepharoptosis repair: If yu yaylid dɛn we de drɔp ( ptosis ), yu nɔ ebul fɔ si fayn ( ptosis ), dɔktɔ kin tɛl yu fɔ du plastic ɔpreshɔn . Blepharoptosis ripa na di prosidur we de es yu yaylid so dat yu go si bεtεh.
• Cricopharyngeal myotomy : Dis na ɔspitul we dɛn kin du. Dɔktɔ we de du ɔpreshɔn kin kɔt smɔl pat na yu trot, mɔ na di krikofarin mɔsul, we de jɔs ɔp di ɛsophagus . Dis kin ɛp fɔ mek di mɔsul dɛn na yu trot rilaks, ɛn dis kin mek di it pas izi wan insay yu εsophagus.
• Tiub fidin (Enteral nutrition) : If yu at fɔ swɛla ( dysphagia ) bad bad wan, fidin tyub kin bi di rayt tritmɛnt. Dɔktɔ kin put dis tiub tru yu nos ɔ yu bɛlɛ ɛn kɛr di tin dɛn we de insay yu bɔdi go dairekt insay yu insay ɔ yu bɛlɛ. Dis kin mek yu gɛt di it we yu nid, ɛn yu kin baypas yu trot ɔltogɛda.

Di tin we impɔtant pas ɔl na fɔ tɔk to dɔktɔ fɔ pik di tritmɛnt we go fayn fɔ yu. Nɔto ɔlman in sityueshɔn na di sem.

Ɛni nyu tritmɛnt de fɔ OPMD we de na klinik trial?

Yes, yu kin fit fɔ gɛt klinik trial tritmɛnt fɔ OPMD. Yu kin aks yu dɔktɔ bɔt dɛn tin ya. Dɔktɔ dɛn de yuz ɔda vaysin dɛn bak fɔ ɛp fɔ pul di OPMD simptom dɛn. Bɔt di wan dɛn we de stɔdi bɔt dis sik stil de stɔdi bɔt aw dɛn tritmɛnt ya kin afɛkt fɔ lɔng tɛm.

Wae de fɔ mek OPMD nɔr de divɛlɔp?

כnכfכs, OPMD na jεnεtik kכndishכn, so no we nכ de fכ mek i nכ de divεlכp. Bɔt if wan pan yu mama ɛn papa gɛt OPMD, yu kin tink bɔt fɔ tɛst yu jɛnɛtiks . dis tεst de chεk fכ di jεnεtik vεryushכn we de mek OPMD. Wan jenɛtik kɔlnɔ go ɛksplen yu tɛst rizɔlt to yu ɛn i go tich yu bak bɔt di risk fɔ pas OPMD ɔ ɔda tin dɛn we yu kin gɛt frɔm yu pikin dɛn.

Aw di fiuja tan lɛk fɔ pɔsin we gɛt OPMD?

OPMD kin gɛt bad bad impak pan yu kwaliti fɔ liv. Bɔt bɔku tɛm, i nɔ kin afɛkt di tɛm we yu de liv yu layf. Tritmɛnt kin ɛp fɔ kɔntrol di sik dɛn ɛn ridyus di risk fɔ gɛt prɔblɛm dɛn. So nɔ wɔri.

Wetin na di prɔblɛm dɛn we kin kam wit OPMD?

Di men kɔmplikeshɔn fɔ OPMD gɛt fɔ du wit di prɔblɛm fɔ swɛla. Yu tɔŋ ɛn yu trot mɔsul dɛn kin wik, ɛn dis kin mek i nɔ izi fɔ it. Dis kin mek yu gɛt mɔ prɔblɛm fɔ:

• Aspiration pneumonia (nyumonia we kin kam bikɔs it ɔ wata we de go insay di say we di briz de blo ) .
• Choking we yu de chok
• Malnutrishɔn

So, if yu gɛt prɔblɛm fɔ swɛla ( dysphagia ) bikɔs ɔf OPMD, mek shɔ se yu tɔk to yu dɔktɔ bɔt di tritmɛnt opshɔn dɛn. Yu kin nid bak fɔ chenj di we aw yu de it fɔ mek yu nɔ gɛt dɛn prɔblɛm ya.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

If yu gɛt OPMD, ɔ yu tink se yu go gɛt am, i fayn fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di fɔs sayn dɛm fɔ OPMD?
• Aw fɔ no di OPMD kɔrɛkt wan?
• Wetin na di tritmɛnt opshɔn dɛm fɔ OPMD?
• Wetin na di prɔblɛm dɛn we kin kam wit OPMD?
• Wetin na di chans fɔ mek mi pikin dɛn gɛt OPMD frɔm mi?

Aks dɛn kwɛstyɔn ya so dat yu go ɔndastand di tin we de apin to yu gud gud wan.

OPMD kin ivin mek pɔsin day?

OPMD insɛf nɔ de afɛkt yu layfspan dairekt wan. Bɔt if dɛn nɔ trit am, di mɔsul dɛn we de na di trot wik kin mek i gɛt prɔblɛm dɛn we kin mek pɔsin in layf de pan denja lɛk fɔ chok ɔ nyumonia we pɔsin kin gɛt . So, e fayn fɔ go to tritmɛnt kwik if yu gɛt sɔm kayn sik.

OPMD kin mek pɔsin taya?

Yɛs, OPMD kin mek pɔsin taya. Taya nɔto di men sayn fɔ OPMD, bɔt na kɔmɔn tin fɔ pipul dɛm wae gɛt dis sik. Wan stɔdi dɔn sho se lɛk af pan di pipul dɛn we gɛt OPMD kin taya we kin ambɔg dɛn tin dɛn we dɛn kin du ɛvride.

Us ɔda kɔndishɔn dɛn we gɛt di sem kayn sayn to OPMD?

Sɔm mεdikal kכndyushכn dεm de wae dεn simptom kin lεk OPMD. So, i impɔtant fɔ gɛt kɔrɛkt diagnosis. Sɔm ɛgzampul dɛn na:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : Dis na sik bak we pɔsin kin gɛt frɔm in mama ɛn papa. Di sayn dɛm na fɔ smɔl ɛn drɔp na di yaylid dɛm.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : Dis na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di yay ɛn at.
• Myasthenia gravis : Dis na wan sik we de mek di mɔsul dɛn wik ɛn taya.
• Oculopharyngodistal myopathy : Dis sik kin mek yu gɛt bɔku pan di sayn dɛm fɔ OPMD, wit di prɔblɛm we yu de blo ɛn sɔntɛm yu nɔ de yɛri fayn.

Wetin fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt (Take-Home Message)

Okay, so naw yu no se OPMD (Oculopharyngeal Muscular Dystrophy) na wan rare jenɛtik kɔndishɔn we de wik di mɔsul dɛm na di aylid ɛn trot. Bɔku tɛm, di sayn dɛn kin apin afta yu dɔn ol 40. So, if yu si ɛni sayn, lɛk we yu yaylid kin drɔp ɔ i nɔ kin izi fɔ swɛla, go to dɔktɔ ɛn nɔ de te . Yu dɔktɔ kin du di tɛst dɛn we yu nid fɔ no if yu gɛt OPMD ɛn gi yu tritmɛnt fɔ ɛp fɔ kɔntrol yu sik dɛn.

Mɛmba se, OPMD simptom kin wɔs as tɛm de go. Ɛn i nɔ de afɛkt di we aw yu de liv yu layf. If yu trit yu fayn, yu go ebul fɔ gɛt gud kwaliti layf. Na dat mek i impɔtant fɔ kɔntinyu fɔ strɔng.

oculopharyngeal muscular dystrophy, OPMD, ptosis, dysphagia, mכsul wik, jεnεtik dizכrd, PABPN1 jin, difεlεns fכ sכlow, di aylid dεm we de dכp