Ingabe nawe ukhathazekile ngokuba buthaka kwamehlo akho nomphimbo? Ake sixoxe nge-OPMD (Oculopharyngeal Muscular Dystrophy)

Wake wazizwa sengathi amehlo akho ayasinda kancane, futhi kunzima ukuwavula kahle? Noma unenkinga yokugwinya, noma uzizwa sengathi kukhona okubambeke emphinjeni wakho? Lezi ngezinye izikhathi kungaba yizinto ezivamile eziza nokuguga. Kodwa-ke, ezimweni ezingavamile, lezi zingaba futhi izimpawu zesimo sofuzo esibizwa ngokuthi i-Oculopharyngeal Muscular Dystrophy (OPMD) . Ungakhathazeki, namuhla sizoxoxa ngokuthi iyini i-OPMD, ukuthi ikhula kanjani, yiziphi izimpawu, nokuthi ikhona yini indlela yokwelapha.

Kuyini i-OPMD (Oculopharyngeal Muscular Dystrophy)? Masiyiqonde kalula.

Kalula nje, i-Oculopharyngeal Muscular Dystrophy (OPMD) iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Okwenzekayo kulokhu ukuthi eminye yemisipha emzimbeni wethu iyabuthaka kancane kancane. Cabanga, nakuba ushintsho lwezakhi zofuzo olubangela lesi sifo kuyinto esizalwa nayo, ngokuvamile izimpawu ziqala ukuvela eminyakeni ephakathi, okungukuthi, cishe eminyakeni engama-40 noma engama-50. Le OPMD ingeyeqembu lezifo ezenza imisipha ibe buthaka elibizwa ngokuthi iMuscular Dystrophy . Lezi yizifo ezidluliselwa esizukulwaneni kuya kwesinye, okungukuthi, ezidluliselwa ngezakhi zofuzo. I-OPMD ibizwa ngokuthi "i-Oculopharyngeal", futhi ithinta kakhulu:

• Iso - okungukuthi, imisipha ezungeze amehlo.
• I-Pharyngeal - Lokhu kubhekisela emisipheni emphinjeni esisiza ukugwinya ukudla nokukhuluma.

Lezi zimpawu zikhula kancane kancane, okusho ukuthi ziyathuthuka . Kodwa izindaba ezinhle ukuthi isikhathi esiningi, lezi zimpawu zikhula kancane kakhulu. Ngakho-ke asikho isidingo sokukhathazeka.

I-OPMD ivame kangakanani? Ubani okungenzeka kakhulu ukuthi ibe nayo?

Eqinisweni, azikho izibalo eziqondile zokuthi bangaki abantu emhlabeni abane-OPMD. Kodwa-ke, ochwepheshe balinganisela ukuthi abantu abaphakathi kuka-3,000 no-30,000 e-United States kuphela bangaba nalesi sifo. Lokhu kusho ukuthi yisifo esingavamile. Nakuba i-OPMD ingakhula kunoma ubani, ivame kakhulu emaqenjini athile abantu. Isibonelo:

• Phakathi kwabantu bamaJuda baseBukharan kwa-Israyeli (cishe oyedwa kubantu abangu-700).
• Phakathi kwabantu baseFrance-baseCanada esifundazweni saseQuebec, eCanada (cishe oyedwa kubantu abayi-1,000).

Nakuba kungekho datha ecacile ngalesi simo eSri Lanka, into ebaluleke kakhulu ukufuna iseluleko sezokwelapha uma unezimpawu ezinjengalezi.

Ziyini izimpawu ze-OPMD? Itholakala kanjani?

Njengoba sesixoxile ngaphambili, i-OPMD ithinta kakhulu amehlo akho nomphimbo wakho. Ngakho-ke, ubuthakathaka emisipheni yamehlo akho nomphimbo wakho bungabangela izimpawu ezinjengalezi:

• Amajwabu amehlo alengayo ( i-Ptosis ) : Amajwabu amehlo abonakala esinda futhi awakwazi ukuvulwa kahle. Ngezinye izikhathi, umbono ungavaleka.
• UkudlaUbunzima bokugwinya ( i-Dysphagia ): Umuzwa weqhubu emphinjeni noma ubunzima bokugwinya lapho ugwinya ukudla noma isiphuzo. Lesi yisibonakaliso esiyinhloko nesikhathazayo esibonakala ku-OPMD.
• I-Dysphonia : Ukushintsha kwezwi, ukushoshozela, noma ubunzima bokukhuluma ngokucacile.
• Ukubona okukabili (i-Diplopia) : Into eyodwa ingabonakala sengathi imbili.
• Ubuthakathaka bemisipha yobuso : Imisipha elawula imizwa yobuso ingaba buthakathaka.
• Ukukhubazeka kokubona kanye nokulinganiselwa kokunyakaza kwamehlo : Kungaba nzima ukubheka phezulu.
• Ubuthakathaka noma ukuwohloka kwemisipha yolimi : Lokhu kungaholela ezintweni ezifana nokungakwazi ukusebenzisa ulimi kahle kanye nobunzima bokuhambisa ukudla emlonyeni.

Ngaphezu kwalezi zimpawu, abantu abane-OPMD bangase babe nobuthakathaka emisipheni ephakathi komzimba (lokho esikubiza ngokuthi imisipha eseduze ). Ngokukhethekile:

• Indawo yenqulu
• Amahlombe
• Ithanga elingaphezulu

Uma le misipha iba buthakathaka, kungaba nzima ukuhamba. Abanye abantu kungadingeka basebenzise udondolo noma i-walker . Cishe umuntu oyedwa kwabayi-10 abane-OPMD angadinga isihlalo sabakhubazekile .

Kuthiwani uma izimpawu zifika kusenesikhathi kunokulindelekile?

Akuvamile kakhulu ukuthi abanye abantu bahlakulele uhlobo olubi lwe-OPMD. Yilapho ubuthakathaka bemisipha buqala ukuba bukhulu ngaphambi kokuba bafinyelele eminyakeni engu-45. Ezimweni ezinjalo, kuvamile ukuthi abantu bangakwazi ukuhamba bodwa lapho befika eminyakeni engu-60. Ngaphezu kwalokho, bangase babhekane nalokhu:

• Ukucindezeleka
• Ukukhohlisa (okubonakala sengathi izinto ezingezona ezangempela)
• Ukwehla kwengqondo
• Izinkinga zemizwa (i-Neuropathy)

Lolu hlobo lwesimo aluvamile kakhulu, kodwa kuhle ukwazi, akunjalo?

Yini ebangela i-OPMD?

I-OPMD iyisifo sofuzo . Lokhu kusho ukuthi ibangelwa ukuguquka kwezakhi zofuzo zethu lapho sizalwa. Ukuguquka kwezakhi zofuzo okubangela i-OPMD kwenzeka ku -PABPN1 gene . Le PABPN1Singazuza uguquko lwezakhi zofuzo kumama, kubaba, noma kokubili. Esikhathini esiningi, omunye wabazali bomuntu one-OPMD une-OPMD. Cabanga ngakho, iningi lezakhi zofuzo zethu liza ngamabili. Ngakho-ke, sinamakhophi amabili alesi sakhi sofuzo se- PABPN1 ku-DNA yethu. Ukuze uthuthukise i-OPMD, kwanele ukuba nalolo guquko lwezakhi zofuzo kukhophi eyodwa kuphela yalesi sakhi sofuzo se- PABPN1 . Kodwa-ke, abanye abantu bangaba nalolu guquko lwezakhi zofuzo kuwo womabili amakhophi esakhi sofuzo se- PABPN1 . Kubantu abanjalo, izimpawu ze-OPMD ngokuvamile zingaba zimbi kakhulu futhi zivele kusenesikhathi.

Wazi kanjani ukuthi unesiqiniseko sokuthi une-OPMD? (Ukuxilongwa)

Uma unezimpawu ze-OPMD, udokotela wakho uzoqala ngokukuxilonga ngokusekelwe ezimpawu zakho. Ngemuva kwalokho, uzokwenza ukuhlolwa kwegazi ukuqinisekisa ukuxilongwa. Lokhu kuzobheka ukuguquka kwezakhi zofuzo ze -PABPN1 . Ngaphezu kwalokho, udokotela wakho angenza nokuhlolwa okulandelayo:

• Ama-Electromyogram (EMG) : Lokhu kuhlolwa kubheka indlela imisipha yakho esabela ngayo ezimpawini zezinzwa. Lokhu kuvame ukufaka izifundo zokuqhuba izinzwa kanye nokuhlolwa kwe-needle electrode.
• Ukuhlolwa kwemisipha : Lokhu kuhilela ukuthatha isampula encane yezicubu zemisipha bese uyihlola. Lokhu kuhlolwa kwemisipha kungasiza ekutholeni ukuguquka kwezakhi zofuzo ze -PABPN1 uma ukuhlolwa kwegazi kungacacile.
• Ukuhlolwa kokugwinya : Uma unenkinga yokugwinya ( i-dysphagia ), lokhu kuhlolwa kubheka izinkinga ngemisipha emphinjeni wakho ukuze kutholakale imbangela.

Yiziphi izindlela zokwelapha i-OPMD?

Ukwelashwa kwe-OPMD kuyahlukahluka kuye ngezimpawu zakho kanye nobunzima bazo. Ungakhathazeki, kunezindlela eziningana zokwelapha ezingasiza ekulawuleni izimpawu zakho.

• Ukwelashwa Komsebenzi noma Komzimba : Ukusebenza nodokotela wezifo zengqondo kungakusiza ukuthi wakhe amandla futhi wenze imisebenzi yansuku zonke. Uma unenkinga yokuhamba ngenxa yobuthakathaka bemisipha, udokotela wakho wezifo zengqondo angancoma ukusetshenziswa kwamadivayisi anjengezinduku , izinsimbi zokubopha imilenze , noma ama-walker .
• Ukwelashwa Kwenkulumo : Udokotela wezifo zenkulumo nolimi angakusiza ngezinkinga zokugwinya nokukhuluma ezibangelwa yi-OPMD. Ubunzima bokugwinya bungancishiswa izinto ezifana nokudla ngomlomo omncane, ukushintsha indlela obamba ngayo ikhanda lakho, noma ukushintsha imikhuba yakho yokudla.
• Imijovo ye-botulinum toxin : Udokotela ujova i-botulinum toxin emsipheni ongaphezulu komphimbo wakho.Ungathola umjovo. Lokhu kukhulula imisipha okwesikhashana, okwenza kube lula ngawe ukugwinya. Kodwa ukuze ugcine le miphumela, kuzodingeka uthole lo mjovo njalo ezinyangeni ezimbalwa.
• Ukulungiswa kwe-blepharoptosis: Uma ukubona kwakho kuvinjiwe ngenxa yokugoba kwamehlo ( i-ptosis ), udokotela angase akuncome ukuhlinzwa kwepulasitiki. Ukulungiswa kwe-blepharoptosis inqubo ephakamisa amehlo akho ukuze ubone kangcono.
• I-Cricopharyngeal myotomy : Lena inqubo yokuhlinzwa. Udokotela ohlinzayo usika kancane emphinjeni wakho, ikakhulukazi emsipheni we-cricopharyngeal, otholakala ngaphezu nje komsipha . Lokhu kusiza ukukhulula imisipha emphinjeni wakho, okuvumela ukudla ukuthi kudlule kalula emsipheni wakho.
• Ukondla ngepayipi (Ukudla okunempilo kwangaphakathi) : Uma ubunzima bakho bokugwinya ( i-dysphagia ) bukhulu, ipayipi lokuncelisa lingaba ukwelashwa okufanele. Udokotela ufaka leli payipi ngekhala lakho noma esiswini sakho bese eletha izakhamzimba ngqo emathunjini noma esiswini sakho. Lokhu kukuvumela ukuthi uthole ukudla okunomsoco okudingayo, ungawudluli umphimbo wakho ngokuphelele.

Into ebaluleke kakhulu ukukhuluma nodokotela ukuze akukhethele ukwelashwa okukulungele. Isimo sabo bonke asifani.

Ingabe kukhona ukwelashwa okusha kwe-OPMD okusezivivinyweni zemitholampilo?

Yebo, ungase ufanelekele ukwelashwa kwesilingo sezokwelapha se-OPMD. Ungabuza udokotela wakho ngalokhu. Odokotela basebenzisa nemithi yokugoma eyengeziwe ukusiza ekunciphiseni izimpawu ze-OPMD. Kodwa-ke, abacwaningi basafunda ngemiphumela yesikhathi eside yalezi zindlela zokwelapha.

Ingabe ikhona indlela yokuvimbela i-OPMD ukuthi ingakhuli?

Ngeshwa, i-OPMD iyisimo sofuzo, ngakho-ke ayikho indlela yokusivimbela ukuthi singakhuli. Kodwa-ke, uma omunye wabazali bakho ene-OPMD, ungase uthande ukucabangela ukuhlolwa kofuzo . Lokhu kuhlolwa kuhlola ukushintshashintsha kofuzo okubangela i-OPMD. Umeluleki wezakhi zofuzo uzochaza imiphumela yakho yokuhlolwa futhi uzokufundisa nangengozi yokudlulisela i-OPMD noma ezinye izimo ezizuzwe njengefa ezinganeni zakho.

Linjani ikusasa kumuntu one-OPMD?

I-OPMD ingaba nomthelela omubi ezingeni lempilo yakho. Kodwa-ke, ngokuvamile ayithinti isikhathi sakho sokuphila. Ukwelashwa kungasiza ekulawuleni izimpawu futhi kunciphise ingozi yezinkinga. Ngakho ungakhathazeki.

Yiziphi izinkinga ezingaba khona ze-OPMD?

Inkinga eyinhloko ye-OPMD ihlobene nobunzima bokugwinya. Ulimi lwakho kanye nemisipha yomphimbo iba buthakathaka, okwenza kube nzima ukudla. Lokhu kwandisa ingozi yakho yokuthi:

• I-pneumonia yokuphefumula (i-pneumonia ebangelwa ukudla noma uketshezi olungena emgudwini womoya )
• Ukuminyana
• Ukungondleki kahle

Ngakho-ke, uma unenkinga yokugwinya ( i-dysphagia ) ngenxa ye-OPMD, qiniseka ukuthi ukhuluma nodokotela wakho mayelana nezinketho zokwelapha. Kungase kudingeke futhi ukuthi ushintshe imikhuba yakho yokudla ukuze unciphise ingozi yalezi zinkinga.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma une-OPMD, noma ucabanga ukuthi ungaba nayo, kuwumqondo omuhle ukubuza udokotela wakho imibuzo efana nale:

• Ziyini izimpawu zokuqala ze-OPMD?
• Ungayithola kanjani ngokunembile i-OPMD?
• Yiziphi izindlela zokwelapha i-OPMD?
• Yiziphi izinkinga ezingaba khona ze-OPMD?
• Angakanani amathuba okuba izingane zami zithole i-OPMD kimi?

Buza le mibuzo ukuze uqonde kangcono isimo sakho.

Ingabe i-OPMD ingabangela ngisho nokufa?

I-OPMD ngokwayo ayithinti ngqo impilo yakho. Kodwa-ke, uma ingelashwa, ubuthakathaka bemisipha yomphimbo bungandisa ingozi yezimo ezisongela ukuphila njengokuklinywa noma i-aspiration pneumonia . Ngakho-ke, kubalulekile ukufuna ukwelashwa kusenesikhathi uma unezimpawu.

Ingabe i-OPMD ingabangela ukukhathala?

Yebo, i-OPMD ingabangela ukukhathala. Ukukhathala akusona uphawu oluyinhloko lwe-OPMD, kodwa kuvamile kubantu abanalesi simo. Ucwaningo olulodwa luthole ukuthi cishe ingxenye yabantu abane-OPMD babhekana nokukhathala okuphazamisa imisebenzi yabo yansuku zonke.

Yiziphi ezinye izimo ezinezimpawu ezifana neze-OPMD?

Kunezinye izimo zezokwelapha ezinezimpawu ezifana neze-OPMD. Ngakho-ke, kubalulekile ukuthola ukuxilongwa okunembile. Ezinye izibonelo yilezi:

• I-Blepharophimosis, i-ptosis, i-epicanthus inversus syndrome (BPES) : Lesi futhi yisifo esidluliselwa ngofuzo. Izimpawu ukuncipha nokugoba kwamehlo.
• I-Chronic progressive external ophthalmoplegia (i-Kearns-Sayre syndrome) : Lesi yisifo esingavamile se-neuromuscular esithinta amehlo nenhliziyo.
• I-Myasthenia gravis : Lesi yisifo esibangelwa ukuzivikela komzimba esibangela ubuthakathaka bemisipha nokukhathala.
• I-Oculopharyngodistal myopathy : Lesi sifo singabangela izimpawu eziningi ze-OPMD, kanye nokucindezeleka kokuphefumula kanye nokulahlekelwa ukuzwa.

Yini okufanele uyikhumbule kulokho esikhulume ngakho (Umyalezo Wokuya Ekhaya)

Kulungile, manje usuyazi ukuthi i-OPMD (Oculopharyngeal Muscular Dystrophy) yisimo esingavamile sofuzo esenza buthaka imisipha yamehlo nomphimbo. Izimpawu zivame ukuvela ngemva kweminyaka engu-40. Ngakho-ke, uma uhlangabezana nanoma yiziphi izimpawu, njengokugoba kwamehlo noma ubunzima bokugwinya, funa iseluleko sezokwelapha ngokushesha . Udokotela wakho angenza izivivinyo ezidingekayo ukuze axilonge i-OPMD futhi anikeze ukwelashwa ukusiza ukulawula izimpawu zakho.

Khumbula, izimpawu ze-OPMD zivame ukuba zimbi kakhulu ngokuhamba kwesikhathi. Futhi azithinti isikhathi sakho sokuphila. Ngokwelashwa okufanele, ungalondoloza izinga elihle lempilo. Yingakho kubalulekile ukuhlala uqinile.

i-oculopharyngeal muscular dystrophy, i-OPMD, i-ptosis, i-dysphagia, ubuthakathaka bemisipha, ukuphazamiseka kwezakhi zofuzo, i-PABPN1 gene, ubunzima bokugwinya, ukugoba kwamehlo