Ngaba nawe ukhathazekile ngokuba buthathaka kwamehlo akho nomqala wakho? Makhe sithethe nge-OPMD (Oculopharyngeal Muscular Dystrophy)

Ngaba wakha waziva ngathi amehlo akho ayasinda kancinci, kwaye kunzima ukuwavula kakuhle? Okanye unengxaki yokuginya, okanye uvakalelwa kukuba kukho into ebambeke emqaleni wakho? Ngamanye amaxesha ezi zizinto eziqhelekileyo eziza nokukhula. Nangona kunjalo, kwiimeko ezingaqhelekanga, ezi zinokuba ziimpawu zesifo semfuza esibizwa ngokuba yi-Oculopharyngeal Muscular Dystrophy (OPMD) . Ungakhathazeki, namhlanje siza kuthetha ngokuba yintoni i-OPMD, indlela ekhula ngayo, zithini iimpawu, kwaye ingaba kukho unyango.

Yintoni i-OPMD (Oculopharyngeal Muscular Dystrophy)? Masiyiqonde ngokulula.

Ngamafutshane, i-Oculopharyngeal Muscular Dystrophy (OPMD) sisifo esingaqhelekanga kakhulu semfuza. Okwenzekayo koku kukuba ezinye izihlunu emizimbeni yethu ziyathamba kancinci kancinci. Khawuthelekelele, nangona utshintsho lwemfuza olubangela esi sifo luyinto esizalwa sinayo, amaxesha amaninzi iimpawu ziqala ukubonakala kwiminyaka ephakathi, oko kukuthi, malunga neminyaka engama-40 okanye engama-50 ubudala. Le OPMD ikwiqela lezifo ezenza izihlunu zibe buthathaka ezibizwa ngokuba yiMuscular Dystrophy . Ezi zizifo ezidluliselwa kwizizukulwana ngezizukulwana, oko kukuthi, ezidluliselwa ngeejini. I-OPMD ibizwa ngokuba yi-"Oculopharyngeal", kwaye ichaphazela kakhulu:

• Iliso - oko kukuthi, izihlunu ezijikeleze amehlo.
• I-Pharyngeal - Oku kubhekisa kwimisipha emqaleni esinceda siginye ukutya size sithethe.

Ezi mpawu zikhula kancinci kancinci, nto leyo ethetha ukuba ziyanda . Kodwa iindaba ezimnandi zezokuba uninzi lwexesha, ezi mpawu zikhula kancinci kakhulu. Ngoko ke akukho mfuneko yokukhathazeka.

Ixhaphake kangakanani i-OPMD? Ngubani onokuba nayo?

Enyanisweni, akukho zibalo zichanekileyo zokuba bangaphi abantu emhlabeni abane-OPMD. Nangona kunjalo, iingcali ziqikelela ukuba phakathi kwabantu abayi-3,000 ukuya kuma-30,000 eMelika kuphela banokuba nesi sifo. Oku kuthetha ukuba sisifo esingaqhelekanga. Nangona i-OPMD inokukhula nakubani na, ixhaphake kakhulu kumaqela athile abantu. Umzekelo:

• Phakathi kwamaJuda aseBukharan kwaSirayeli (malunga nomntu omnye kubantu abangama-700).
• Phakathi kwabantu baseFransi-Khanada kwiphondo laseQuebec, eKhanada (malunga nomntu omnye kwi-1,000).

Nangona kungekho datha icacileyo ngale meko eSri Lanka, eyona nto ibalulekileyo kukufuna iingcebiso zonyango ukuba uneempawu ezinje ngezi.

Zithini iimpawu ze-OPMD? Ifunyaniswa njani?

Njengoko besitshilo ngaphambili, i-OPMD ichaphazela kakhulu amehlo nomqala wakho. Ngoko ke, ubuthathaka kwimisipha yeenkophe zakho nomqala wakho bunokubangela iimpawu ezifana nezi:

• Iinkophe ezigobileyo ( iPtosis ) : Iinkophe zibonakala zinzima kwaye azikwazi ukuvulwa kakuhle. Ngamanye amaxesha, umbono unokuvaleka.
• UkutyaUbunzima bokuginya ( i-Dysphagia ): Imvakalelo yokuba kukho iqhubu emqaleni okanye ubunzima bokuginya xa uginya ukutya okanye isiselo. Olu luphawu oluphambili nolukhathazayo olubonwa kwi-OPMD.
• I-Dysphonia : Ukutshintsha kwelizwi, ukurhawuzelela, okanye ubunzima bokuthetha ngokucacileyo.
• Ukubona kabini (iDiplopia) : Into enye ingabonakala ngathi zimbini.
• Ubuthathaka bemisipha yobuso : Imisipha elawula iimvakalelo zobuso inokuba buthathaka.
• Ukuphazamiseka kokubona kunye nokungakwazi ukuhamba kwamehlo : Kunokuba nzima ukujika amehlo akho ujonge phezulu.
• Ukubuthathaka okanye ukushwabana kwezihlunu zolwimi : Oku kunokukhokelela kwizinto ezifana nokungakwazi ukusebenzisa ulwimi ngokufanelekileyo kunye nobunzima bokuhambisa ukutya emlonyeni.

Ukongeza kwezi mpawu, abantu abane-OPMD banokufumana ubuthathaka kwimisipha ephakathi komzimba (oko sikubiza ngokuba yimisipha yangasentla ). Ngokukodwa:

• Indawo yesinqe
• Amagxa
• Ithanga elingaphezulu

Xa ezi zihlunu zibuthathaka, kunokuba nzima ukuhamba. Abanye abantu banokufuna ukusebenzisa intonga okanye isixhobo sokuhamba . Malunga nomntu omnye kwabalishumi abane-OPMD unokufuna isitulo esinamavili .

Kuthekani ukuba iimpawu zifika kwangethuba kunokuba bekulindelwe?

Kunqabile kakhulu, abanye abantu banokuba nohlobo olubi lwe-OPMD. Kulapho ubuthathaka bemisipha buqala ukuba nzima ngaphambi kokuba bafikelele kwiminyaka engama-45. Kwiimeko ezinjalo, kuqhelekile ukuba abantu bangakwazi ukuhamba bodwa xa beneminyaka engama-60. Ukongeza, banokufumana oku kulandelayo:

• Uxinzelelo
• Iingcamango ezingezizo zokwenyani (ezibonakala ngathi zizinto ezingezizo zokwenyani)
• Ukuhla kwengqondo
• Iingxaki zemithambo-luvo (i-Neuropathy)

Olu hlobo lwemeko aluqhelekanga kakhulu, kodwa kulungile ukwazi, akunjalo?

Yintoni ebangela i-OPMD?

I-OPMD sisifo semfuza . Oku kuthetha ukuba sibangelwa kukuguquka kwezakhi zofuzo zethu ekuzalweni. Ukuguquka kwezakhi zofuzo okubangela i-OPMD kwenzeka kwi -gene ye-PABPN1 . Le PABPN1Singazuza uguquko lwemfuza kumama wethu, utata, okanye bobabini. Ixesha elininzi, omnye wabazali bomntu one-OPMD une-OPMD. Cinga ngayo, uninzi lwemfuza zethu ziza ngababini. Ngoko ke, sikwanazo neekopi ezimbini zale jini ye -PABPN1 kwi-DNA yethu. Ukuze siphuhlise i-OPMD, kwanele ukuba nolo tshintsho lwemfuza kwikopi enye kuphela yale jini ye- PABPN1 . Nangona kunjalo, abanye abantu banokuba nolu tshintsho lwemfuza kuzo zombini iikopi zejini ye- PABPN1 . Kubantu abanjalo, iimpawu ze-OPMD zihlala zinzima ngakumbi kwaye zivele kwangethuba.

Ungazi njani ngokuqinisekileyo ukuba une-OPMD? (Ukuxilongwa)

Ukuba uneempawu ze-OPMD, ugqirha wakho uza kuqala akuxilonge ngokweempawu zakho. Emva koko, uza kwenza uvavanyo lwegazi ukuqinisekisa ukuxilongwa. Oku kuza kukhangela utshintsho kwijini ye -PABPN1 . Ukongeza, ugqirha wakho angenza nolu vavanyo lulandelayo:

• Ii-Electromyograms (EMG) : Olu vavanyo lujonga indlela izihlunu zakho ezisabela ngayo kwimiqondiso yemithambo-luvo. Oku kudla ngokubandakanya izifundo zokuqhuba imithambo-luvo kunye nokuhlolwa kwee-electrode zeenaliti.
• Ukuhlolwa kwemisipha : Oku kuquka ukuthatha isampuli encinci yezicubu zemisipha uze uyivavanye. Olu vavanyo lwemisipha lunokunceda ekufumaneni utshintsho lwezakhi zofuzo lwe -PABPN1 ukuba uvavanyo lwegazi alucacanga.
• Uvavanyo lokuginya : Ukuba unengxaki yokuginya ( i-dysphagia ), olu vavanyo lukhangela iingxaki kwimisipha emphinjeni wakho ukuze kufunyanwe unobangela.

Ziziphi iindlela zonyango ze-OPMD?

Unyango lwe-OPMD luyahluka ngokuxhomekeke kwiimpawu zakho kunye nobunzima bazo. Ungakhathazeki, kukho iindlela ezahlukeneyo zonyango ezinokukunceda ukulawula iimpawu zakho.

• Unyango lomsebenzi okanye lomzimba : Ukusebenza nogqirha wengqondo kunokukunceda wakhe amandla kwaye wenze imisebenzi yemihla ngemihla. Ukuba unengxaki yokuhamba ngenxa yobuthathaka bemisipha, ugqirha wakho wengqondo unokucebisa ukuba usebenzise izixhobo ezifana neenduku , izixhobo zokuxhasa imilenze , okanye izixhobo zokuhamba .
• Unyango lokuthetha : Ingcali yezifo zentetho kunye nolwimi inokukunceda kwiingxaki zokuginya nokuthetha ezibangelwa yi-OPMD. Ubunzima bokuginya bunokuncipha ngezinto ezifana nokutya ngomlomo omncinci, ukutshintsha indlela obamba ngayo intloko yakho, okanye ukutshintsha imikhwa yakho yokutya.
• Iinaliti zetyhefu yeBotulinum : Ugqirha ufaka ityhefu yebotulinum kwisihlunu esingaphezulu komqala wakho.Ungafumana inaliti. Oku kuyawukhulula umsipha okwethutyana, okwenza kube lula kuwe ukuginya. Kodwa ukuze ugcine ezi ziphumo, kuya kufuneka ufumane le naliti rhoqo emva kweenyanga ezimbalwa.
• Ukulungiswa kwe-blepharoptosis: Ukuba umbono wakho uvalwe ziinkophe ezigobileyo ( i-ptosis ), ugqirha unokucebisa utyando lweplastiki. Ukulungiswa kwe-blepharoptosis yinkqubo ephakamisa iinkophe zakho ukuze ubone ngcono.
• I-Cricopharyngeal myotomy : Le yinkqubo yotyando. Ugqirha wenza umkrwelo omncinci emqaleni wakho, ngakumbi kwimisipha ye-cricopharyngeal, ekwindawo engaphezulu komqala . Oku kunceda ukukhulula izihlunu emqaleni wakho, okuvumela ukutya ukuba kudlule ngokulula kumqala wakho.
• Ukondla ngetyhubhu (Isondlo sangaphakathi) : Ukuba ubunzima bakho bokuginya ( i-dysphagia ) bunzima, ityhubhu yokondla inokuba lunyango olufanelekileyo. Ugqirha ufaka le tyhubhu ngempumlo okanye esiswini sakho aze angenise izondlo ngqo emathunjini okanye esiswini sakho. Oku kukuvumela ukuba ufumane izondlo ozifunayo, ungawugqibi umqala wakho ngokupheleleyo.

Eyona nto ibalulekileyo kukuthetha nogqirha ukuze akukhethele unyango olukulungeleyo. Ayizizo zonke iimeko ezifanayo.

Ngaba kukho naluphi na unyango olutsha lwe-OPMD olukwizilingo zeklinikhi?

Ewe, ungafaneleka kunyango lovavanyo lweklinikhi lwe-OPMD. Ungabuza ugqirha wakho ngale nto. Oogqirha basebenzisa nezinye izitofu zogonyo ukunceda ekunciphiseni iimpawu ze-OPMD. Nangona kunjalo, abaphandi basafunda ngemiphumo yexesha elide yale mithi.

Ngaba ikho indlela yokuthintela i-OPMD ukuba ingaphuhli?

Ngelishwa, i-OPMD yimeko yemfuza, ngoko ke akukho ndlela yokuyithintela ukuba ingakhuli. Nangona kunjalo, ukuba omnye wabazali bakho une-OPMD, ungacinga ngovavanyo lwemfuza . Olu vavanyo lujonga umahluko wemfuza obangela i-OPMD. Umcebisi wemfuza uza kukuchazela iziphumo zovavanyo lwakho kwaye uza kukufundisa nangomngcipheko wokudlulisela i-OPMD okanye ezinye iimeko ezizuzwe njengelifa kubantwana bakho.

Ikamva linjani kumntu one-OPMD?

I-OPMD inokuba nefuthe elibi kumgangatho wobomi bakho. Nangona kunjalo, ayisoloko ichaphazela ubomi bakho. Unyango lunokunceda ukulawula iimpawu kunye nokunciphisa umngcipheko weengxaki. Ngoko ke ungakhathazeki.

Ziziphi iingxaki ezinokubakho ze-OPMD?

Ingxaki ephambili ye-OPMD inxulumene nobunzima bokuginya. Ulwimi lwakho kunye nemisipha yomphimbo iba buthathaka, nto leyo eyenza kube nzima ukutya. Oku kwandisa umngcipheko wakho wokuba:

• I-pneumonia yokuphefumla (i-pneumonia ebangelwa kukutya okanye ulwelo olungena kwindlela yomoya )
• Ukuminxana
• Ukungondleki kakuhle

Ngoko ke, ukuba unengxaki yokuginya ( i-dysphagia ) ngenxa ye-OPMD, qiniseka ukuba uthetha nogqirha wakho malunga neendlela zonyango. Kusenokufuneka utshintshe indlela otya ngayo ukuze unciphise umngcipheko wezi ngxaki.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba une-OPMD, okanye ucinga ukuba unokuba nayo, kungcono ukubuza ugqirha wakho imibuzo efana nale:

• Ziziphi iimpawu zokuqala ze-OPMD?
• Indlela yokuxilonga ngokuchanekileyo i-OPMD?
• Ziziphi iindlela zonyango lwe-OPMD?
• Ziziphi iingxaki ezinokubakho ze-OPMD?
• Ngawaphi amathuba okuba abantwana bam bafumane i-OPMD kum?

Buza le mibuzo ukuze uqonde ngcono imeko yakho.

Ngaba i-OPMD inokubangela nokufa?

I-OPMD ngokwayo ayichaphazeli ngqo ubomi bakho. Nangona kunjalo, ukuba ayinyangwa, ubuthathaka bemisipha yomphimbo bunokunyusa umngcipheko weemeko ezisongela ubomi ezifana nokukrwitshwa okanye i-aspiration pneumonia . Ke ngoko, kubalulekile ukufuna unyango kwangethuba ukuba uneempawu.

Ngaba i-OPMD ingabangela ukudinwa?

Ewe, i-OPMD inokubangela ukudinwa. Ukudinwa akulona uphawu oluphambili lwe-OPMD, kodwa kuqhelekile kubantu abanale meko. Olunye uphando lufumanise ukuba malunga nesiqingatha sabantu abane-OPMD badinwa okuphazamisana nemisebenzi yabo yemihla ngemihla.

Ziziphi ezinye iimeko ezineempawu ezifanayo neze-OPMD?

Kukho ezinye iimeko zempilo ezineempawu ezifana neze-OPMD. Ngoko ke, kubalulekile ukufumana uxilongo oluchanekileyo. Eminye imizekelo yile:

• I-Blepharophimosis, i-ptosis, i-epicanthus inversus syndrome (BPES) : Esi sisifo esidluliselwa kwilifa. Iimpawu kukuncipha nokugoba kwamehlo.
• I-Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : Esi sisifo esingaqhelekanga se-neuromuscular esichaphazela amehlo nentliziyo.
• I-Myasthenia gravis : Esi sisifo esibangelwa kukuzimela komzimba esibangela ubuthathaka bemisipha kunye nokudinwa.
• I-Oculopharyngodistal myopathy : Esi sifo sinokubangela iimpawu ezininzi ze-OPMD, kunye nokuphazamiseka kokuphefumla kunye nokulahlekelwa kukuva.

Yintoni ekufuneka uyikhumbule kwinto esithethe ngayo (Umyalezo Wokubuyela Ekhaya)

Kulungile, ngoku uyazi ukuba i-OPMD (Oculopharyngeal Muscular Dystrophy) yimeko engaqhelekanga yemfuza ebangela ukuba izihlunu zeenkophe nomqala zibe buthathaka. Iimpawu zihlala zibonakala emva kweminyaka engama-40. Ngoko ke, ukuba ufumana naziphi na iimpawu, ezinje ngokugoba kweenkophe okanye ubunzima bokuginya, funa ingcebiso kagqirha ngaphandle kokulibazisa . Ugqirha wakho unokwenza uvavanyo olufunekayo ukuze afumanise i-OPMD kwaye anike unyango ukunceda ukulawula iimpawu zakho.

Khumbula, iimpawu ze-OPMD ziba mandundu ngokuhamba kwexesha. Kwaye azichaphazeli ubomi bakho. Ngonyango olufanelekileyo, unokugcina umgangatho wobomi ulungile. Yiyo loo nto kubalulekile ukuhlala uqinile.

i-oculopharyngeal muscular dystrophy, i-OPMD, i-ptosis, i-dysphagia, ubuthathaka bemisipha, isifo semfuza, i-PABPN1 gene, ubunzima bokuginya, ukugoba kwamehlo