Kei te āwangawanga anō hoki koe mō te ngoikore o ō kamo me tō korokoro? Me kōrero tātou mō te OPMD (Oculopharyngeal Muscular Dystrophy)

Kua pā mai te ahua o te taumaha o ō kamo, ā, he uaua ki te whakatuwhera tika? He uaua rānei ki te horomi, he ahua rānei kei roto i tō korokoro te mea e mau ana? He mea noa ēnei i ētahi wā ka puta mai i te kaumātuatanga. Heoi, i ētahi wā onge, he tohu anō hoki ēnei o tētahi mate ira e kiia nei ko te Oculopharyngeal Muscular Dystrophy (OPMD) . Kaua e manukanuka, i tēnei rā ka kōrero tātou mō te OPMD, me pēhea te whanaketanga, he aha ngā tohu, me te mea kei reira he rongoā.

He aha te OPMD (Oculopharyngeal Muscular Dystrophy)? Kia mārama tātou.

Ki te kī ngāwari, he mate ira tino onge te Oculopharyngeal Muscular Dystrophy (OPMD) . Ko te mea ka tupu i roto i tēnei ko te ngoikore haere o ētahi o ngā uaua o roto i tō tātou tinana. Whakaarohia, ahakoa ko te huringa ira e puta ai tēnei mate he mea i whānau mai ai tātou, ko te nuinga o te wā ka tīmata te puta o ngā tohu i te pakeketanga waenga, arā, i te 40, i te 50 rānei o te tau. Ko tēnei OPMD nō te rōpū mate e ngoikore ai ngā uaua e kiia nei ko te Muscular Dystrophy . He mate ēnei e tukuna iho ana i ia whakatipuranga ki ia whakatipuranga, arā, e tukuna ana mā roto i ngā ira. Ko te OPMD e kiia ana ko te "Oculopharyngeal", ā, ko te nuinga ka pā ki a tātou:

• Ngā uaua o te kanohi - arā, ngā uaua e karapoti ana i ngā kanohi.
• Pharyngeal - E pā ana tēnei ki ngā uaua o te korokoro e āwhina ana i a tātou ki te horomi kai me te kōrero.

Ka āta whanake haere ēnei tohu, arā, ka haere tonu . Engari ko te rongo pai, i te nuinga o te wā, ka tino āta whanake ēnei tohu. Nō reira, kāore he take e manukanuka ai.

He pēhea te noa o te OPMD? Ko wai te hunga tino tūpono ka pāngia e tēnei mate?

Ina hoki, kāore he tatauranga tika mō te tokomaha o ngā tāngata o te ao e pāngia ana e te OPMD. Heoi, e ai ki ngā tohunga, kei waenganui i te 3,000 me te 30,000 tāngata i te United States anake ka pāngia e tēnei mate. Ko te tikanga he mate onge tēnei. Ahakoa ka taea te whakawhanake i te OPMD i roto i te tangata, he nui ake te kitea i roto i ētahi rōpū tāngata. Hei tauira:

• I roto i te taupori Hūrai o Bukharan i Iharaira (tata ki te kotahi i roto i te 700 tāngata).
• I roto i te taupori Wīwī-Kānata i te porowini o Quebec, Kanata (tata ki te kotahi i roto i te 1,000 tāngata).

Ahakoa kāore he raraunga mārama mō tēnei āhuatanga i Sri Lanka, ko te mea nui ko te rapu tohutohu hauora mēnā kei a koe ēnei tohu.

He aha ngā tohu o te OPMD? Me pēhea te tautuhi i tōna mate?

E ai ki tā tātou i kōrero ai i mua, ko te OPMD te mea nui ka pā ki ō kanohi me tō korokoro. Nō reira, ko te ngoikore o ngā uaua o ō kamo me tō korokoro ka puta ai ngā tohu penei:

• Ngā kamo e takoto kau ana ( Ptosis ) : He taumaha te āhua o ngā kamo, ā, kāore e taea te whakatuwhera tika. I ētahi wā, ka āraia te tirohanga.
• KaiTe Uaua ki te Horomi ( Dyphagia ): He ahua kei te korokoro te puku, he uaua rānei ki te horomi i te wā e horomi ana te kai, te inu rānei. Koinei te tohu matua, ā, he ahua whakararuraru hoki e kitea ana i roto i te OPMD.
• Dysphonia : Ngā huringa o te reo, te pāorooro, te uaua rānei ki te kōrero mārama.
• Te tirohanga takirua (Diplopia) : Tērā pea ka kitea he mea kotahi, he mea e rua.
• Ngoikoretanga o ngā uaua o te mata : Tērā pea ka ngoikore ngā uaua e whakahaere ana i ngā kare ā-roto o te mata .
• Te ngoikore o te tirohanga me ngā herenga o te nekehanga o ngā kanohi : Tērā pea he uaua ki te tahuri i ō kanohi me te titiro ake.
• Te ngoikore, te memeha rānei o ngā uaua o te arero : Ka arahi pea tēnei ki ngā āhuatanga pēnei i te kore e taea te whakamahi tika i te arero me te uaua ki te neke kai i roto i te waha.

Haunga ēnei tohu, ka pāngia pea te hunga whai OPMD e te ngoikore o ngā uaua i waenganui o te tinana (e kiia nei e tātou ko ngā uaua proximal ). Ina koa:

• Rohe hope
• Ngā pakihiwi
• Huha o runga

Ina ngoikore ēnei uaua, ka uaua pea te hikoi. Tērā pea me whakamahi ētahi tāngata i te tokotoko , i te taputapu hikoi rānei. Tata ki te 1 i roto i te 10 tāngata whai OPMD ka hiahia pea ki te tūru wīra .

He aha mēnā ka puta wawe mai ngā tohu i te wā i whakaarohia?

He tino onge te whanaketanga o te OPMD kino ki ētahi tāngata. Koinei te wā ka tīmata te ngoikore o te uaua i mua i te 45 tau te pakeke. I roto i ēnei āhuatanga, he mea noa ka kore e taea e te tangata te hikoi ko rātou anake i te 60 tau te pakeke. Hei tāpiri, ka pāngia pea rātou e:

• Te pouri
• Ngā tinihanga (ngā mea āhua kāore i te tūturu)
• Te hekenga o te hinengaro
• Ngā raruraru io (Neuropathy)

He tino onge tēnei momo āhuatanga, engari he mea pai kia mōhio, tika?

He aha ngā take o te OPMD?

He mate ira te OPMD. Ko te tikanga tēnei ka puta mai i te whakarerekētanga ira i roto i ō tātou ira i te whānautanga. Ko te whakarerekētanga ira e puta ai te OPMD ka puta i roto i te ira PABPN1 . Ko tēnei PABPN1Ka taea e tātou te whiwhi i te whakarerekētanga ira mai i tō tātou whaea, i tō tātou pāpā, i ngā mea e rua rānei. I te nuinga o te wā, ko tētahi o ngā mātua o te tangata he OPMD tōna. Whakaarohia, ko te nuinga o ō tātou ira he takirua. Nō reira, e rua ngā tārua o tēnei ira PABPN1 kei roto i tō tātou DNA. Hei whakawhanake i te OPMD, he nui noa iho te whai i taua whakarerekētanga ira i roto i te kotahi tārua o tēnei ira PABPN1 . Heoi, ka taea e ētahi tāngata te whai i tēnei whakarerekētanga ira i roto i ngā tārua e rua o te ira PABPN1 . I roto i ēnei tāngata, ko ngā tohu OPMD ka paku kino ake, ā, ka puta wawe mai.

Me pēhea koe e tino mōhio ai mēnā kei a koe te OPMD? (Tauātanga)

Mena kei a koe ngā tohumate o te OPMD, ka tātaritatia koe e tō tākuta i runga i ō tohumate. Kātahi ka whakamātauria he whakamātautau toto hei whakaū i te tātaritanga. Mā tēnei ka rapua he whakarerekētanga ira i roto i te ira PABPN1 . Hei tāpiri, ka mahia pea e tō tākuta ēnei whakamātautau e whai ake nei:

• Ngā Electromyograms (EMG) : Ka tirohia e tēnei whakamātautau te urupare a ō uaua ki ngā tohu io. Kei roto i tēnei ko ngā rangahau kawe io me ngā whakamātautau ngira hiko.
• Te tango i ngā pūtau uaua : Ko te tango i tētahi tauira iti o te kiko uaua ka whakamātautau. Ka taea e tēnei tango i ngā pūtau uaua te āwhina ki te kimi i te whakarerekētanga ira PABPN1 mēnā kāore i te mārama ngā whakamātautau toto .
• Ngā whakamātautau horomi : Mena he uaua ki a koe te horomi ( dysphagia ), ka rapua e ēnei whakamātautau ngā raruraru ki ngā uaua o tō korokoro hei kimi i te pūtake.

He aha ngā maimoatanga mō te OPMD?

Ka rerekē te maimoatanga mō te OPMD i runga i ō tohu me tōna kaha. Kaua e manukanuka, he maha ngā maimoatanga hei āwhina i te whakahaere i ō tohu.

• Te whakaora tinana, te whakaora mahi rānei : Mā te mahi tahi me te kaiwhakaora hinengaro ka āwhina i a koe ki te whakapakari i tō kaha me te mahi i ngā mahi o ia rā. Mena he uaua ki a koe te hikoi nā te ngoikore o te uaua, ka tūtohu pea tō kaiwhakaora hinengaro i te whakamahinga o ngā taputapu pēnei i te tokotoko , ngā tautoko waewae , ngā taputapu hikoi rānei.
• Whakaora kōrero : Ka taea e te tohunga mate kōrero me te reo te āwhina i a koe ki ngā raruraru horomi me te kōrero i puta mai i te OPMD. Ka taea te whakaiti i ngā uauatanga o te horomi mā te kai me te waha iti, te whakarerekē i te āhua o tō pupuri i tō mahunga, te whakarerekē rānei i ō tikanga kai.
• Werohanga paitini botulinum : Ka werohangahia e te tākuta te paitini botulinum ki roto i te uaua kei te tihi o tō korokoro.Ka taea e koe te werohanga. Mā tēnei ka whakangāwari i te uaua mō te wā poto, kia māmā ake ai te horomi. Engari kia mau tonu ai ēnei hua, me werohanga koe i ia torutoru marama.
• Te whakatikatika i te Blepharoptosis: Mena ka āraihia tō tirohanga e te kamo e takoto ana ( ptosis ), ka tūtohu pea te tākuta i te pokanga kirihou. Ko te whakatikatika i te Blepharoptosis he tikanga e hiki ake ai ō kamo kia pai ake ai tō tirohanga.
• Te miotomi Cricopharyngeal : He tikanga pokanga tēnei. Ka tapahia e te taote pokanga he wahi iti i roto i tō korokoro, inā koa i roto i te uaua cricopharyngeal, kei runga ake i te esophagus . Ka āwhina tēnei i te whakangāwari i ngā uaua o tō korokoro, kia māmā ake ai te uru o te kai ki roto i tō esophagus.
• Whāngai ngongo (kai enteral) : Mena he uaua rawa tō horomitanga ( dysphagia ), he pai pea te whakamahi i te ngongo whāngai hei rongoā. Ka whakauruhia e te tākuta tēnei ngongo mā roto i tō ihu, i tō puku rānei, ka tukuna tika ngā matūkai ki roto i ō whekau, i tō puku rānei. Mā tēnei ka taea e koe te whiwhi i te matūkai e hiahiatia ana e koe, me te karo katoa i tō korokoro.

Ko te mea nui ko te kōrero ki te tākuta kia whiriwhiria e ia te maimoatanga e pai ana mōu. Kāore e rite te āhua o te katoa.

He maimoatanga hou kei roto i ngā whakamātautau haumanu mō te OPMD?

Āe, tera pea ka āhei koe ki te whiwhi maimoatanga whakamātautau haumanu mō te OPMD. Ka taea e koe te pātai ki tō tākuta mō ēnei. Kei te whakamahi hoki ngā tākuta i ētahi atu kano ārai mate hei āwhina i te whakamamae i ngā tohumate OPMD. Heoi anō, kei te rangahau tonu ngā kairangahau i ngā pānga roa o ēnei maimoatanga.

He ara hei ārai i te whanaketanga o te OPMD?

Engari, he mate ira te OPMD, nō reira kāore he huarahi hei aukati i tōna whanaketanga. Heoi, ki te mea he OPMD tētahi o ō mātua, me whakaaro pea koe ki te whakamātautau ira . Ka tirohia e tēnei whakamātautau te rerekētanga ira e puta ai te OPMD. Ma te kaitohutohu ira koe e whakamārama ngā hua o tō whakamātautau, ā, ma ia anō hoki koe e whakaako mō te tūponotanga o te tuku i te OPMD, i ētahi atu mate tuku iho rānei ki ō tamariki.

He aha te āhua o te heke mai mō te tangata whai OPMD?

Ka pā kino pea te OPMD ki tō kounga o te oranga. Heoi, kāore e pā ki tō roanga o te oranga. Ka taea e te maimoatanga te āwhina i te whakahaere i ngā tohu me te whakaiti i te tūponotanga o ngā raruraru. Nō reira kaua e manukanuka.

He aha ngā raruraru ka pā mai i te OPMD?

Ko te raruraru matua o te OPMD e pā ana ki te uaua ki te horomi. Ka ngoikore ngā uaua o tō arero me tō korokoro, ka uaua ai te kai. Ka piki ake te tūponotanga o:

• Te niumōnia manawa (te niumōnia i puta mai i te kai, i te wai rānei e uru ana ki te ara manawa )
• Te kōroke
• Te kore kai

Nō reira, ki te mea he uaua ki a koe te horomi ( dysphagia ) nā te OPMD, me kōrero koe ki tō tākuta mō ngā kōwhiringa maimoatanga. Me whakarerekē pea koe i ō tikanga kai hei whakaiti i te tūponotanga o ēnei raruraru.

He aha ngā pātai me pātai atu e au ki taku tākuta?

Mena kei a koe te OPMD, kei te whakaaro rānei koe kei a koe, he mea pai kia pātai atu koe ki tō tākuta i ēnei pātai:

• He aha ngā tohu tōmua o te OPMD?
• Me pēhea te tautuhi tika i te OPMD?
• He aha ngā kōwhiringa maimoatanga mō te OPMD?
• He aha ngā raruraru ka pā mai i te OPMD?
• He aha ngā tūponotanga ka pāngia aku tamariki e te OPMD mai i ahau?

Pātaihia ēnei pātai kia pai ake ai tō māramatanga ki tō āhuatanga.

Ka taea e te OPMD te mate?

Kāore te OPMD e pā tika ki tō roanga o te ora. Heoi, ki te kore e rongoatia, ka taea e te ngoikore o te uaua korokoro te whakanui ake i te tūponotanga o ngā mate morearea pērā i te kōroke , te niumōnia manawa rānei. Nō reira, he mea nui kia rapu wawe i te maimoatanga mēnā ka puta ngā tohu.

Ka taea e te OPMD te whakararu i te ngenge?

Ae, ka taea e te OPMD te whakararuraru. Ehara te ngenge i te tohu matua o te OPMD, engari he mea noa i waenga i te hunga whai mate nei. I kitea i roto i tētahi rangahau tata ki te haurua o te hunga whai OPMD ka pāngia e te ngenge ka whakararuraru i ā rātou mahi o ia rā.

He aha atu ngā āhuatanga he rite ngā tohu ki te OPMD?

Tērā ētahi āhuatanga hauora e rite ana ō rātou tohu ki te OPMD. Nō reira, he mea nui kia tika te tautuhi i te mate. Ko ētahi tauira ko:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : He mate tuku iho anō hoki tēnei. Ko ngā tohu ko te whaiti me te heke o ngā kamo.
• Te mate ophthalmoplegia o waho e haere whakamua ana (te mate Kearns-Sayre) : He mate uaua-io onge tēnei e pā ana ki ngā kanohi me te ngākau.
• Myasthenia gravis : He mate pūnaha ārai mate tēnei e ngoikore ai te uaua me te ngenge.
• Te myopathy o te oro o te taringa : Ka taea e tēnei mate te whakaputa i te maha o ngā tohu o te OPMD, tae atu ki te uaua o te manawa me te ngaronga pea o te rongo.

Ngā mea hei maumahara mā tātou i kōrero ai (Karere hei kawe ki te kāinga)

Āe, kua mōhio koe inaianei ko te OPMD (Oculopharyngeal Muscular Dystrophy) he mate ira onge e ngoikore ai ngā uaua o ngā kamo me te korokoro. He maha ngā wā ka puta ngā tohu i muri i te 40 tau te pakeke. Nō reira, ki te pāngia koe e ētahi tohu, pērā i te kamo e takoto kau ana, te uaua rānei ki te horomi, rapua he tohutohu hauora i runga i te wā tonu . Ka taea e tō tākuta te mahi i ngā whakamātautau e tika ana hei tātaritanga i te OPMD me te whakarato maimoatanga hei āwhina i te whakahaere i ō tohu.

Kia maumahara, ka kino haere ngā tohumate OPMD i te roanga o te wā. Ā, kāore e pā ki tō roanga o te ora. Mā te maimoatanga tika, ka taea e koe te pupuri i te kounga pai o te oranga. Koia te mea nui kia kaha tonu koe.

te ngoikore o te uaua o te kanohi, te OPMD, te mate pūkahukahu, te koretake o te kai, te ngoikore o te uaua, te mate ira, te ira PABPN1, te uaua ki te horomi, te kamo e takoto kau ana