So w’aniwa ne wo menewa a ɛbɛyɛ mmerɛw nso haw wo? Momma yɛnka OPMD (Oculopharyngeal Muscular Dystrophy) ho asɛm .

So woate nka pɛn sɛ w’aniwa reyɛ duru kakra, na ɛyɛ den sɛ wubebue no yiye? Anaasɛ ɛyɛ den kakra sɛ wobɛmene, anaasɛ wote nka sɛ biribi akɔhyɛ wo menewam? Ɛtɔ mmere bi a eyinom betumi ayɛ nneɛma a ɛfata a ɛba bere a obi nyin no. Nanso, wɔ nsɛm a ɛntaa nsi mu no, eyinom nso betumi ayɛ awosu mu tebea bi a wɔfrɛ no Oculopharyngeal Muscular Dystrophy (OPMD) ho sɛnkyerɛnne . Mma ɛnhaw wo, ɛnnɛ yɛbɛka nea OPMD yɛ, sɛnea ɛkɔ so, nea ɛkyerɛ, ne sɛ ebia ayaresa bi wɔ hɔ anaa.

Dɛn ne OPMD (Oculopharyngeal Muscular Dystrophy)? Momma yɛnte ase tiawa.

Sɛ yɛbɛka no tiawa a, Oculopharyngeal Muscular Dystrophy (OPMD) yɛ awosu mu yare a ɛntaa nsi koraa. Nea ɛkɔ so wɔ eyi mu ne sɛ yɛn nipadua mu ntini ahorow bi yɛ mmerɛw nkakrankakra. Fa no sɛ, ɛwom sɛ awosu mu nsakrae a ɛde yare yi ba no yɛ biribi a wɔde awo yɛn de, nanso mpɛn pii no, sɛnkyerɛnne ahorow no fi ase da adi wɔ mfinimfini mfe mu, kyerɛ sɛ, bɛyɛ mfe 40 anaa 50. Saa OPMD yi ka nyarewa kuw a ɛma ntini ahorow no yɛ mmerɛw a wɔfrɛ no Muscular Dystrophy . Eyinom yɛ nyarewa a wonya fi awo ntoatoaso so kɔ awo ntoatoaso so, kyerɛ sɛ, ɛnam awosu mu nkwaadɔm so de kɔ. Wɔfrɛ OPMD "Oculopharyngeal", na ɛka yɛn titiriw:

• Ocular - se, ntini a atwa aniwa ho ahyia.
• Pharyngeal - Wei kyerɛ ntini a ɛwɔ menewa mu a ɛboa yɛn ma yɛmene aduane na yɛkasa.

Saa sɛnkyerɛnne ahorow yi ba nkakrankakra, a ɛkyerɛ sɛ ɛkɔ so . Nanso asɛmpa no ne sɛ mpɛn pii no, saa sɛnkyerɛnne ahorow yi ba nkakrankakra paa. Enti ɛho nhia sɛ wohaw wo ho.

OPMD abu so dɛn? Hena na ɛda adi kɛse sɛ obenya bi?

Nokwarem no, akontaabu pɔtee biara nni hɔ a ɛkyerɛ nnipa dodow a wɔwɔ wiase a wɔwɔ OPMD. Nanso, abenfo bu akontaa sɛ ebia nnipa bɛyɛ 3,000 kosi 30,000 na wɔwɔ saa yare yi wɔ United States nkutoo. Eyi kyerɛ sɛ ɛyɛ yare a ɛntaa nsi koraa. Ɛwom sɛ OPMD tumi nya obiara de, nanso ɛtaa ba nnipa akuw bi mu. Nhwɛsoɔ:

• Wɔ Bukharan Yudafo a wɔwɔ Israel mu (bɛyɛ nnipa 700 biara mu biako).
• Wɔ Fransefo ne Canadafo a wɔwɔ Quebec mantam mu, Canada (bɛyɛ nnipa 1,000 biara mu biako) mu.

Ɛwom sɛ wonni tebea yi ho nsɛm a emu da hɔ wɔ Sri Lanka de, nanso sɛ wowɔ sɛnkyerɛnne ahorow te sɛ eyinom a, ɛho hia sɛ wohwehwɛ nnuruyɛfo afotu.

Dɛn ne OPMD ho sɛnkyerɛnne ahorow? Ɔkwan bɛn so na wohu sɛ ɛwɔ hɔ?

Sɛnea yɛadi kan aka ho asɛm no, OPMD ka w’ani ne wo menewa titiriw. Enti, sɛ w’aniwa ne wo menewa ntini mu yɛ mmerɛw a, ebetumi ama woanya yare no ho sɛnkyerɛnne te sɛ eyinom:

• Drooping eyelids ( Ptosis ) : Ɛte sɛ nea aniwa no mu yɛ duru na wontumi mmue yiye. Ɛtɔ da bi a, anisoadehu tumi siw kwan.
• AduaneƐyɛ den sɛ wobɛmene ( Dysphagia ): Sɛ woremene aduan anaa anonne a, ɛyɛ den sɛ wobɛmene wo menewa mu. Eyi ne sɛnkyerɛnne titiriw a ɛhaw adwene kakra a wohu wɔ OPMD mu.
• Dysphonia : Ɛnne sesa, ɛyɛ dede, anaasɛ ɛyɛ den sɛ wobɛkasa pefee.
• Anisoadehu abien (Diplopia) : Ebia ade biako betumi ayɛ te sɛ nea ɛyɛ abien.
• Anim ntini mu mmerɛwyɛ : Ntini a ɛhwɛ anim nkate so no betumi ayɛ mmerɛw.
• Aniwa a ɛyɛ mmerɛw ne aniwa a ɛnyɛ den : Ebia ɛbɛyɛ den sɛ wobɛdan w’ani na woahwɛ soro.
• Tɛkrɛma ntini a ɛyɛ mmerɛw anaasɛ ɛyɛ mmerɛw : Eyi betumi ama nneɛma te sɛ tɛkrɛma a wontumi mfa nni dwuma yiye na ɛyɛ den sɛ wobɛma aduan akɔ anom.

Wɔ saa sɛnkyerɛnne ahorow yi akyi no, nnipa a wɔwɔ OPMD nso betumi anya mmerɛwyɛ wɔ ntini a ɛwɔ nipadua no mfinimfini (nea yɛfrɛ no proximal muscles ) no mu. Ne titiriw no:

• Hip area
• Mmati so
• Asen a ɛwɔ soro

Sɛ saa ntini ahorow yi yɛ mmerɛw a, ebetumi ayɛ den sɛ wobɛnantew. Ebia ɛho behia sɛ nnipa binom de poma anaa ade a wɔde nantew di dwuma . Ebia nnipa 10 biara mu 1 a wɔwɔ OPMD behia mmubuafo akongua .

Na sɛ yare no ho sɛnkyerɛnne ba ntɛm sen sɛnea na wɔhwɛ kwan nso ɛ?

Ɛntaa mma sɛ nnipa binom betumi anya OPMD a emu yɛ den. Eyi ne bere a ntini mu mmerɛwyɛ fi ase yɛ kɛse ansa na wɔadi mfe 45. Wɔ tebea horow a ɛtete saa mu no, ɛtaa ba sɛ nkurɔfo ankasa ntumi nnantew bere a wɔadi mfe 60. Nea ɛka ho no, ebia wobehu:

• Hahaahayɔ
• Delusions (nneɛma a ɛte sɛ nea ɛnyɛ nokware) .
• Nhumu a ɛkɔ fam
• Ntini mu haw ahorow (Neuropathy) .

Tebea a ɛte sɛɛ ho yɛ na koraa, nanso eye sɛ wubehu, ɛnte saa?

Dɛn na ɛde OPMD ba?

OPMD yɛ awosu mu yare . Eyi kyerɛ sɛ ɛnam nkwaadɔm mu nsakrae bi a ɛba yɛn awosu mu wɔ awo mu. Awosu mu nsakrae a ɛde OPMD ba no ba wɔ PABPN1 awosu mu abɔde mu . Saa PABPN1 yiYebetumi anya awosu mu nsakrae no afi yɛn maame, yɛn papa, anaa yɛn baanu nyinaa hɔ. Mpɛn pii no, obi a ɔwɔ OPMD awofo no mu biako wɔ OPMD. Susuw ho hwɛ, yɛn awosu mu nkwaadɔm dodow no ara ba abien abien. Enti, yɛwɔ saa PABPN1 awosu mu abɔde yi nso mfonini abien wɔ yɛn DNA mu. Sɛ wobenya OPMD a, ɛdɔɔso sɛ wobenya saa awosu mu nsakrae no wɔ PABPN1 awosu mu nkwaadɔm yi biako pɛ mu. Nanso, nnipa binom betumi anya awosu mu nsakrae yi wɔ PABPN1 awosu mu nkwaadɔm no mfonini abien no nyinaa mu. Wɔ nnipa a wɔte saa mu no, mpɛn pii no, OPMD ho sɛnkyerɛnne betumi ayɛ kɛse kakra na ada adi ntɛm.

Wobɛyɛ dɛn ahu no yiye sɛ wowɔ OPMD? (Nyare a Wɔahu) .

Sɛ wowɔ OPMD ho sɛnkyerɛnne a, wo duruyɛfo bedi kan agyina wo sɛnkyerɛnne ahorow so ahu wo. Afei, wɔbɛyɛ mogya mu nhwehwɛmu de akyerɛ sɛ wɔahu yare no. Eyi bɛhwehwɛ mutation bi wɔ PABPN1 awosu mu abɔde mu. Nea ɛka ho no, wo duruyɛfo no nso betumi ayɛ nhwehwɛmu ahorow a edidi so yi:

• Electromyograms (EMG) : Saa sɔhwɛ yi hwɛ sɛnea wo ntini ahorow no yɛ n’ade wɔ ntini mu nsɛnkyerɛnne ho. Mpɛn pii no nea ɛka eyi ho ne ntini a ɛkɔ nipadua no mu ho nhwehwɛmu ne aduru a wɔde yɛ ade a wɔde yɛ nneɛma a wɔde yɛ ade .
• Muscle biopsies : Eyi hwehwɛ sɛ wɔfa ntini mu ntini ketewaa bi na wɔsɔ hwɛ. Saa ntini mu nhwehwɛmu yi betumi aboa ma wɔahu PABPN1 awosu mu nkwaadɔm mu nsakrae no sɛ mogya mu nhwehwɛmu mu nna hɔ a.
• Mene ho nhwehwɛmu : Sɛ ɛyɛ den ma wo sɛ wobɛmene ( dysphagia ) a, nhwehwɛmu yi hwehwɛ ɔhaw ahorow a ɛwɔ wo menewa mu ntini ahorow no mu na ama woahu nea ɛde ba.

Dɛn ne ayaresa ahorow a wɔde sa OPMD?

Ɛsono OPMD ayaresa a egyina wo sɛnkyerɛnne ne sɛnea emu yɛ den so. Mma ɛnhaw wo, ayaresa ahorow pii wɔ hɔ a ebetumi aboa ma woadi wo sɛnkyerɛnne ahorow no so.

• Adwuma anaa nipadua mu ayaresa : Sɛ wo ne oduruyɛfo yɛ adwuma a, ebetumi aboa wo ma woanya ahoɔden na woayɛ da biara da dwumadi ahorow. Sɛ ɛyɛ den ma wo wɔ nantew mu esiane ntini a ɛyɛ mmerɛw nti a, ebia wo duruyɛfo no bɛkamfo akyerɛ sɛ fa mfiri te sɛ poma , nan a wɔde hyɛ wo nan ase , anaa nea wɔde nantew di dwuma .
• Ɔkasa mu ayaresa : Ɔkasa ne kasa ho ɔyaresafo betumi aboa wo wɔ ɔhaw ahorow a ɛfa amene ne kasa ho a OPMD de ba no ho. Wobetumi atew ɔhaw a ɛwɔ menewa mu no so denam nneɛma te sɛ adidi a wode ano nketenkete di, ɔkwan a wofa so kura wo ti so a wobɛsakra, anaa w’adidi su a wobɛsakra no so.
• Botulinum awuduru a wɔde twitwiw : Oduruyɛfo de botulinum awuduru gu ntini bi a ɛwɔ wo menewa atifi mu.Wubetumi anya aduru a wɔde twitwiw wo. Eyi ma ntini no dwo bere tiaa bi, na ɛma ɛyɛ mmerɛw ma wo sɛ wobɛmene. Nanso sɛ wobɛkɔ so akura nea efi mu ba yi mu a, ɛho behia sɛ wofa saa aduru yi asram kakraa biara.
• Blepharoptosis a wosiesie: Sɛ w’aniwa a ɛrehwe ase ( ptosis ) siw w’ani so a , oduruyɛfo betumi akamfo akyerɛ sɛ wɔnyɛ oprehyɛn a wɔde yɛ nipadua no mu nneɛma . Blepharoptosis repair yɛ adeyɛ a ɛma w’aniwa so sɛnea ɛbɛyɛ a wubetumi ahu ade yiye.
• Cricopharyngeal myotomy : Eyi yɛ oprehyɛn a wɔyɛ. Oduruyɛfo a ɔyɛ oprehyɛn twa wo menewam ketewaa bi, titiriw wɔ cricopharyngeal muscle a ɛwɔ esophagus no atifi pɛɛ no ​​mu . Eyi boa ma ntini a ɛwɔ wo menewam no dwo, na ɛma aduan kɔ wo menewam ntɛmntɛm.
• Tube feeding (Enteral nutrition) : Sɛ ɛyɛ den ma wo sɛ wobɛmene ( dysphagia ) a, ebia feeding tube bɛyɛ ayaresa a ɛfata. Oduruyɛfo de saa afiri yi fa wo hwene anaa wo yafunu mu na ɔde aduannuru kɔ wo dwensɔtwaa anaa wo yafunu mu tẽẽ. Eyi ma wunya aduannuru a wuhia, na wutwa wo menewa ho hyia koraa.

Nea ɛho hia paa ne sɛ wo ne oduruyɛfo bɛkasa na wapaw ayaresa a eye ma wo. Ɛnyɛ obiara tebea na ɛyɛ pɛ.

So ayaresa foforo bi wɔ hɔ a wɔde sa OPMD a wɔreyɛ wɔ ayaresabea sɔhwɛ ahorow mu?

Yiw, ebia wobɛfata sɛ wonya ayaresa a wɔde sɔ OPMD wɔ ayaresabea . Wubetumi abisa wo duruyɛfo no eyinom ho asɛm. Nnuruyɛfo nso de nnuru foforo a wɔde bɔ nkurɔfo ho ban redi dwuma de aboa ma OPMD ho sɛnkyerɛnne ahorow no afi hɔ. Nanso, nhwehwɛmufo da so ara sua sɛnea saa ayaresa ahorow yi nya bere tenten no ho ade.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw OPMD ano?

Nea ɛyɛ awerɛhow no, OPMD yɛ awosu mu tebea, enti ɔkwan biara nni hɔ a wɔbɛfa so asiw ano. Nanso, sɛ w’awofo mu biako wɔ OPMD a, ebia wobɛpɛ sɛ wususuw awosu mu nhwehwɛmu ho . Saa sɔhwɛ yi hwehwɛ awosu mu nsakrae a ɛde OPMD ba no mu. Awosu ho ɔfotufo bɛkyerɛkyerɛ wo nhwehwɛmu no mu aba mu akyerɛ wo na wakyerɛkyerɛ wo asiane a ɛwɔ hɔ sɛ wobɛma wo mma OPMD anaa tebea afoforo a wonya fi awo mu nso ho asɛm.

Daakye te dɛn ma obi a ɔwɔ OPMD?

OPMD betumi anya w’asetra pa so nkɛntɛnso bɔne. Nanso, mpɛn pii no ɛnka wo nkwa nna. Ayaresa betumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow so na ɛtew asiane a ɛwɔ hɔ sɛ ɔhaw ahorow bɛba no so. Enti mma ɛnhaw wo.

Dɛn ne nsɛnnennen a ebetumi afi OPMD mu aba?

Ɔhaw titiriw a ɛwɔ OPMD mu no fa sɛnea ɛyɛ den sɛ ɔbɛmene ade ho. Wo tɛkrɛma ne wo menewa ntini yɛ mmerɛw, na ɛma ɛyɛ den sɛ wubedidi. Eyi ma asiane a ɛwɔ hɔ sɛ:

• Aspiration pneumonia (ahurututu mu yare a ɛnam aduan anaa nsu a ɛkɔ mframa kwan mu nti ) .
• Menewa a wɔde menewa
• Aduan pa a wonnya nni

Enti, sɛ ɛyɛ den ma wo sɛ wobɛmene ( dysphagia ) esiane OPMD nti a, hwɛ hu sɛ wo ne wo duruyɛfo bɛkasa afa ayaresa a wubetumi apaw ho. Ebia ɛho behia nso sɛ wosakra w’adidi na ama asiane a ɛwɔ hɔ sɛ wubenya nsɛnnennen yi so atew.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wowɔ OPMD, anaasɛ wususuw sɛ ebia wowɔ bi a, ɛyɛ papa sɛ wubebisa wo duruyɛfo nsɛm te sɛ eyinom:

• Dɛn ne OPMD ho sɛnkyerɛnne ahorow a edi kan?
• Ɔkwan bɛn so na wobetumi ahu OPMD pɛpɛɛpɛ?
• Dɛn ne ayaresa a wobetumi apaw ama OPMD?
• Dɛn ne nsɛnnennen a ebetumi afi OPMD mu aba?
• Hokwan bɛn na ɛwɔ hɔ sɛ me mma benya OPMD afi me hɔ?

Bisa nsɛm yi na ama woate wo tebea no ase yiye.

So OPMD betumi ama obi awu mpo?

OPMD ankasa nnya wo nkwa nna so nkɛntɛnso tẽẽ. Nanso sɛ wɔansa a, menewa mu ntini a ɛyɛ mmerɛw no betumi ama asiane a ɛwɔ hɔ sɛ obi benya tebea horow a ɛde nkwa to asiane mu te sɛ ahurututu mu yare a wɔde menewa anaa ahurututu mu yare a wɔtwetwe no ayɛ kɛse . Enti, sɛ wowɔ sɛnkyerɛnne bi a, ɛho hia sɛ wohwehwɛ ayaresa ntɛm.

So OPMD betumi ama obi abrɛ?

Yiw, OPMD betumi ama obi abrɛ. Ɛnyɛ ɔbrɛ ne OPMD ho sɛnkyerɛnne titiriw, nanso ɛtaa ba nnipa a wɔwɔ tebea no mu. Nhwehwɛmu bi daa no adi sɛ nnipa a wɔwɔ OPMD no mu bɛyɛ fã nya ɔbrɛ a ɛmma wontumi nyɛ wɔn da biara da dwumadi ahorow.

Tebea afoforo bɛn na ɛwɔ sɛnkyerɛnne a ɛte sɛ OPMD?

Aduruyɛ mu tebea horow bi wɔ hɔ a ne sɛnkyerɛnne betumi ayɛ te sɛ OPMD. Enti, ɛho hia sɛ wonya yare no ho nhwehwɛmu a edi mu. Nhwɛso ahorow bi ne:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : Eyi nso yɛ awosu mu yare. Nsɛnkyerɛnne no ne aniwa no a ɛyɛ teateaa na ɛhwe ase.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : Eyi yɛ ntini mu yare a ɛntaa nsi a ɛka aniwa ne koma.
• Myasthenia gravis : Eyi yɛ yare a nipadua no tumi ko tia nyarewa a ɛma ntini yɛ mmerɛw na ɔbrɛ.
• Oculopharyngodistal myopathy : Saa yare yi betumi de OPMD ho sɛnkyerɛnne pii aba, ne ɔhome mu haw ne ebia aso a ɛyɛ den.

Nea ɛsɛ sɛ yɛkae fi nea yɛaka ho asɛm no mu (Take-Home Message) .

Okay, enti seesei wunim sɛ OPMD (Oculopharyngeal Muscular Dystrophy) yɛ awosu mu tebea a ɛntaa nsi a ɛma aniwa ne menewa ntini yɛ mmerɛw. Mpɛn pii no, sɛnkyerɛnne ahorow no da adi bere a woadi mfe 40. Enti, sɛ wuhu sɛnkyerɛnne biara te sɛ w’aniwa a ɛrehwe ase anaasɛ ɛyɛ den sɛ wobɛmene ade a, hwehwɛ aduruyɛfo afotu a ɛnkyɛ . Wo duruyɛfo betumi ayɛ nhwehwɛmu a ɛho hia de ahu OPMD na wama wo ayaresa de aboa ma woadi wo sɛnkyerɛnne ahorow no so.

Kae sɛ bere kɔ so no, OPMD ho sɛnkyerɛnne no taa yɛ kɛse. Na ɛnka wo nkwa nna. Sɛ wosa wo yare yiye a, wubetumi akura asetra pa mu. Ɛno nti na ɛho hia sɛ yɛkɔ so yɛ den no.

oculopharyngeal muscular dystrophy, OPMD, ptosis, dysphagia, ntini mu mmerɛwyɛ, awosu mu ɔhaw, PABPN1 awosu mu abɔde, ɛyɛ den sɛ ɔbɛmene, aniwa a ɛhwe ase