He aha te Mate Uaua? Tohutohu, Take, me te Maimoatanga

Ko te mate uaua he rōpū o ngā āhuatanga ira tuku ika ika nei e whakawaiwai haere ai ō uaua i te wā. Whakaarohia he uaua ki tō tinana te pupuri i te kaha me te hanganga o ngā muka uaua, ka pā pea tenei ki te pehea o tō nekehanga, te manawa, me te mahi i ngā mahi o ia rā.

Ahakoa ka rongo pea tenei he nui rawa i te tīmatanga, ka taea e te mārama ki te mate uaua te awhina i a koe, i ō whānau rānei ki te arahi i te āhuatanga me te whakapono nui ake. He maha ngā momo rerekē, ia momo he wā me ōna āhuatanga ake, ā, kei te haere tonu ngā whakahaere hauora ki te whakapai ake i te kounga o te ora mō te hunga e noho ana me ēnei āhuatanga.

He aha te mate uaua?

Ko te mate uaua e tohu ana ki te neke atu i te 30 o ngā mate tuku ika e pā ana ki te ngoikore o ngā uaua me te ngaro o te nui o ngā uaua. Ka ngoikore haere ō uaua ki te whakatikatika i a rātou ano, ka arahi ki te uaua ake ki te nekehanga i te wā.

Ko te kupu "dystrophy" e tohu ana ki te "kai he," engari i tēnei take, e whakaatu ana ki te pehea e kore ai e taea e ō pūtau uaua te pupuri i tō rātou hanganga noa. Ko ia momo mate uaua ka puta mai i ngā huringa ira rerekē e pā ana ki ngā pūmua motuhake e hiahiatia ana e ō uaua kia ora.

Ka puta mai ētahi momo i te tamarikitanga, ētahi atu kaore e whakaatu i ngā tohu tae noa ki te pakehatanga. Ka tere te haere whakamua i ētahi wā, ka tōaroa rawa i ētahi atu, kei te whakawhirinaki ki te momo motuhake e pā ana ki a koe.

He aha ngā momo mate uaua?

He maha ngā momo matua o te mate uaua, ia momo e pā ana ki ngā rōpū uaua rerekē, ā, e whai ana i ngā tauira rerekē o te haere whakamua. Ko te mārama ki tō momo motuhake ka awhina i ngā tākuta ki te hanga i te mahere maimoatanga tino pai mōu.

Ko te mate uaua Duchenne (DMD) te momo tino noa me te kino rawa i ngā tamariki. E pā ana tenei ki ngā tamaiti, ā, e puta ana i te nuinga i waenga i ngā tau 2-6, e pā ana ki te ngoikore e tīmata ana i ngā waewae me te upoko.

Ko te mate uaua Becker he rite ki a Duchenne engari ka tōaroa te haere whakamua. Ka tīmata ngā tohu i te tekau tau rānei i ngā tekau tau rua tekau rānei, ā, he tokomaha te hunga e pupuri ana i te kaha ki te haere tae noa ki te pakehatanga.

Ko te mate uaua Myotonic te momo tino noa i ngā pakeke. I tua atu i te ngoikore o ngā uaua, ka taea e te mate te pakaru o ngā uaua (myotonia) kei hea ngā uaua e uaua ana ki te okioki i muri i te whakawhāiti.

Ko te mate uaua Facioscapulohumeral (FSHD) e tīmata ana i tō mata, pokohiwi, me ō ringa o runga. Koinei tetahi o ngā momo ngawari, ā, ka taea te tīmata i tetahi tau mai i te tamarikitanga tae noa ki te pakehatanga.

Ko te mate uaua Limb-girdle e pā ana ki ngā uaua kei te taha o ō huha me ō pokohiwi. He maha ngā momo iti kei roto i tēnei kāwai, ia momo he take ira me ngā tauira rerekē o te haere whakamua.

He aha ngā tohu o te mate uaua?

Ka rereke ngā tohu o te mate uaua, kei te whakawhirinaki ki te momo kei a koe, engari ko te ngoikore o ngā uaua katoa. Ka kite pea koe i ēnei huringa e haere whakamua ana i ngā marama rānei i ngā tau rānei.

Ko ēnei ngā tohu tino noa hei titiro:

• Uaua ki te haere, te oma, te piki i ngā kaupae
• Te hinga tūturu, te uaua ki te whakatika mai i te papa
• Te mamae o ngā uaua, te pakaru, te korokoro
• Te ngoikore i ngā rōpū uaua motuhake (mata, pokohiwi, rānei waewae)
• Ngā uaua kēmu nui ake i te mea he ngoikore atu i te mea e kitea ana
• Te whakaroa o te whanaketanga o ngā mahi motuka i ngā tamariki
• Te uaua ki te whakaara i ngā ringa ki runga i te upoko, ki te kawe rānei i ngā mea
• Ngā huringa i te tu rānei i te aronga haere

Ka puta mai ētahi momo tohu i tua atu i ngā uaua anō. Ka rongo pea koe i ngā raruraru ngākau, ngā raruraru manawa, ngā wero ako rānei, kei te whakawhirinaki ki te momo mate uaua kei a koe.

Ko te haere whakamua o ngā tohu he tōaroa, ko te tikanga ka taea e koe te whakarite ki ngā huringa kaore e mohio tonu koe ki a rātou. Koia te take he mea nui kia aro ki ngā tauira o te uaua ake ki ngā mahi i mahi ngāwari koe i mua.

He aha ngā take o te mate uaua?

Ko te mate uaua ka puta mai i ngā huringa (mutations) i ngā ira e kawea ana e ngā pūmua e hiahiatia ana e ō uaua kia ora. Ka tuku ika ika ēnei huringa ira, ko te tikanga ka tukuna iho i ngā mātua ki ngā tamariki.

Ko te pūmua tino nui e pā ana ko te dystrophin, e mahi ana hei whakakapi mo ō muka uaua. Ka ngaro te dystrophin, kaore rānei e mahi tika, ka pakaru ō pūtau uaua i ia wā e whakawhāiti ana, ā, ka mate i te mutunga.

He rerekē ngā momo mate uaua e pā ana ki ngā ira rerekē. Hei tauira, ko te mate Duchenne me te Becker e pā ana ki te ira dystrophin, engari ko ētahi atu momo e pā ana ki ngā ira e hanga ana i ētahi atu pūmua uaua.

Ka rerekē ngā tauira tuku ika i runga i te momo. Ko ētahi momo he X-linked, ko te tikanga e pā ana ki ngā tane i te nuinga na te mea kei te ira X te ira. Ko ētahi atu e whai ana i ngā tauira autosomal dominant rānei recessive rānei, e pā ana ki ngā tane me ngā wahine rite tonu.

He mea nui kia mārama ko te mate uaua kaore i puta mai i tetahi mea i mahi koe, i kore rānei i mahi. Ko ēnei ngā āhuatanga ira e puta mai ana i ngā huringa DNA tuku ika, ehara i ngā take oranga, i ngā whakaaturanga taiao rānei.

Nōhea te haere ki te taakuta mō te mate uaua?

Me ui atu koe ki te taakuta mena ka kite koe i te ngoikore o ngā uaua, mena ka ngaro ō tamariki i ngā tohu whanaketanga noa. Ka taea e te aromatawai wawe te arahi ki te whakahaere pai ake me te tautoko mōu, mō tō whānau rānei.

Whakatau rānei he hui mena ka pāngia koe e te hinga tūturu, te uaua ki te piki i ngā kaupae, te uaua ki te kawe i ngā mea i kore e wero i mua. Ko ēnei huringa i ō kaha tinana e tika ana kia arohia e te hauora, ina koa ki te kino haere.

Mō ngā tamariki, kia titiro ki te whakaroa o te haere, te uaua ki te oma, ki te pūka rānei, te uaua ki te pupuri i ngā hoa i ngā mahi tinana. Me aromatawai wawe ngā tamaiti he uaua nui ō rātou kēmu me te ngoikore.

Kaua e tatari mena kei te pāngia koe e ngā raruraru manawa, ngā mamae ngākau, te ngenge nui rānei me te ngoikore o ngā uaua. Ka taea e ēnei te tohu kei te pā te āhuatanga ki ētahi atu pūnaha tinana nui e hiahia ana ki te tiaki wawe.

He mea nui te hītori whānau. Mena he whānau kei a koe he mate uaua, ā, kei te whakaaro koe ki te whānau tamariki, ka taea e te tohutohu ira te whakarato i ngā korero whai hua mō ngā tūponotanga me ngā kōwhiringa whakamātautau.

He aha ngā take tūponotanga mō te mate uaua?

Ko te take tūponotanga matua mō te mate uaua ko te whai i te hītori whānau o te āhuatanga. Na te mea ko ēnei ngā mate ira, ko tō tūponotanga e whakawhirinaki ana ki te mea kua whiwhi koe i ngā huringa ira motuhake e puta ai rātou.

Ka taea e tō ira tangata te awe i te tūponotanga mō ētahi momo. Ko ngā momo X-linked pērā i a Duchenne me Becker e pā ana ki ngā tane i te nuinga na te mea kotahi anake te ira X kei a rātou. Ka taea e ngā wahine te kawe, ā, ka iti pea ngā tohu.

Ka rerekē te tau o te tīmatanga i runga i te momo, engari ko ētahi momo he tino pea te puta i ngā wā ora motuhake. Ko te mate Duchenne e whakaatu ana i ngā tohu i te tamarikitanga, engari ko ētahi atu momo pērā i te mate myotonic e puta ana i te pakehatanga.

Ka taea e te take iwi te mahi i ētahi momo onge. Ko ētahi mutations ira he tino noa i ngā taupori motuhake, ahakoa ka taea e te mate uaua te pā ki te iwi o tetahi iwi.

Ko te whai i tetahi momo mate uaua kaore e whakanui ake i tō tūponotanga ki te whanake i ētahi atu momo, na te mea he rerekē ngā huringa ira ia momo. Heoi, ka taea e ngā mema whānau te whakaū i ngā tūponotanga ira rite.

He aha ngā raruraru pea o te mate uaua?

Ka taea e te mate uaua te arahi ki ngā raruraru maha i te haere whakamua o te āhuatanga, engari ka taea te whakahaere pai i ēnei maha me te tiaki hauora tika. Ko te mārama ki ngā raruraru pea ka awhina i a koe me tō rōpū hauora ki te whakatūpato i ngā raruraru.

Ko ēnei ngā raruraru tino nui hei matapaki:

• Ngā raruraru manawa i te ngoikore o ngā uaua manawa
• Ngā raruraru ngākau, tae atu ki te cardiomyopathy me ngā āhuatanga koretake
• Ngā hononga hononga kei hea ngā uaua me ngā uaua e pīngao ana
• Scoliosis (te kōpae o te tuaiwi) mai i ngā uaua koretake
• Ngā herenga nekehanga e hiahia ana ki ngā taputapu awhina
• Te piki o te tūponotanga o ngā whati mai i te hinga me te ngoikore o ngā wheua

Ko ngā raruraru manawa kei roto i ngā āhuatanga tino nui. I te ngoikore o ngā uaua e awhina ana i a koe ki te manawa, ka hiahia pea koe ki te tautoko manawa, ina koa i te moe rānei i ngā mate manawa rānei.

Ko te rongo pai ko te nuinga o ngā raruraru ka taea te aukati, te whakahaere rānei me te tiaki whakamua. Ko te tirotiro tūturu, te rongoā tinana, me ngā whakauru tika ka taea te whakapai ake i tō kounga o te ora, ā, ka awhina i te aukati i ētahi o ēnei take mai i te whanaketanga.

Me pēhea te whakatau i te mate uaua?

Ko te whakatau i te mate uaua e whakauru ana i ngā kaupae maha, e tīmata ana i te kōrero taipitopito mō ō tohu me tō hītori whānau. Ka hiahia tō taakuta ki te mārama ki te wā i kite tuatahi ai koe i te ngoikore me te pehea i haere whakamua ai i te wā.

Ka haere mai te whakamātautau tinana i muri mai, kei hea ka whakamātautau tō taakuta i tō kaha uaua, ngā whakautu, me te hononga. Ka titiro rātou ki ngā tauira motuhake o te ngoikore ka taea te awhina i te tautuhi i te momo mate uaua pea e pā ana.

Ka taea e ngā whakamātautau toto te whakaatu i ngā taumata teitei o tetahi enzyme e kiia nei ko te creatine kinase (CK), e rere ana i ngā pūtau uaua pakaru. Ahakoa ko ngā taumata CK teitei e tohu ana i te pakaru o ngā uaua, kaore e tohu i te take tika.

Ko te whakamātautau ira te taputapu whakatau tino pai. Ka taea e te tauira toto, te wāhi waha rānei te tautuhi i ngā mutations ira motuhake e puta ai ngā momo rerekē o te mate uaua.

Ka taea hoki e tō taakuta te tūtohutia he whakamātautau electromyography (EMG), e ine ana i te mahi hiko i ō uaua, i tetahi whakamātautau uaua rānei ki te tirotiro i te kōpū i raro i te microscope. Ka awhina ēnei whakamātautau ki te whakau i te whakatau, ki te whakakore rānei i ētahi atu āhuatanga.

He aha te maimoatanga mō te mate uaua?

Ahakoa kaore he rongoā mō te mate uaua i tēnei wā, ka taea e ngā maimoatanga te whakaheke i te haere whakamua, te whakahaere i ngā tohu, te whakapai ake i tō kounga o te ora. Ko te whakaaturanga e aro ana ki te pupuri i te mahi me te aukati i ngā raruraru mo te roa rawa.

He mahi nui ngā rongoā i te maimoatanga. Ka taea e ngā corticosteroids pērā i te prednisone te awhina i te whakaheke i te ngoikore o ngā uaua i ētahi momo, ina koa te mate uaua Duchenne. Ka taea e ngā rongoā hou pērā i te eteplirsen te whai hua ki ngā momo ira motuhake.

He mea nui te rongoā tinana mō te pupuri i te kaha o ngā uaua me te ngawari. Ka hoahoa tō kaiwhakaora i ngā whakakorikori e pupuri ana i ō hononga, e awhina ana i a koe ki te pupuri i te motuhake i ngā mahi o ia rā.

Ka awhina te rongoā mahi i a koe ki te whakarite i tō taiao me te ako i ngā huarahi hou ki te mahi i ngā mahi i te huringa o ō kaha. Ka taea pea tenei te whakamahi i ngā taputapu awhina, te whakarereke rānei i tō kāinga mō te pai ake o te uru.

Ka nui te tautoko manawa i te ngoikore o ngā uaua manawa. Ka taea tenei te whāiti mai i ngā tikanga ki te horoi i ō ngā manawa ki te manawa miihini i te moe rānei i te wā katoa e hiahiatia ana.

Ko te tirotiro ngākau me te maimoatanga tūturu ka awhina i te whakahaere i ngā raruraru ngākau. Ka hiahia pea ētahi ki ngā rongoā mō ngā raruraru āhuatanga ngākau, ki te tautoko rānei i te mahi ngākau.

Me pēhea te whakahaere i te mate uaua i te kāinga?

Ko te whakahaere i te mate uaua i te kāinga e whakauru ana ki te hanga i te taiao tautoko e awhina ana i a koe ki te pupuri i te motuhake me te noho haumaru. Ka taea e ngā whakarerekētanga iti me ngā mahi tūturu te whakarereke nui i tō oranga o ia rā.

Aro ki te whakakorikori ngawari, tūturu e tūtohuhia ana e tō rōpū hauora. Ko te kauhoe me te whakatewhatewha he whiringa pai i te nuinga na te mea e pupuri ana i te ngawari kaore e whakapā atu i te ahotea nui ki ngā uaua ngoikore.

Ka taea e ngā whakarerekētanga kāinga te whakapai ake i te haumaru me te uru. Whakaarohia te tāuta i ngā pou hopu, ngā papa, me te mārama tika. Ko te pupuri i ngā taonga e whakamahia pinepine ana i roto i te ringa ngāwari ka whakaiti i te ahotea me te tūponotanga hinga.

He mahi tautoko te kai i tō hauora katoa. Ko te pupuri i te taumaha hauora ka whakaiti i te ahotea ki ō uaua me ō hononga, i te wa e tautoko ana te nui o te pūmua i te hauora uaua.

Ka awhina ngā tikanga tiaki kaha i a koe ki te mahi atu me te iti o te ngenge. Whakaritehia ngā mahi wero mō ngā wā e kaha ana koe, ā, kaua e whakaroa ki te whakamahi i ngā taputapu awhina ina awhina ana rātou.

Noho hono atu ki tō whatunga tautoko. Ko te whānau, ngā hoa, me ngā rōpū tautoko e whakarato ana i te tautoko hinengaro me te awhina mahi ka taea te whakapai ake i tō kounga o te ora.

Me pēhea te whakarite mō tō hui taakuta?

Ko te whakarite mō tō hui ka awhina i te whakarite kia whiwhi koe i ngā korero me te tautoko tino nui mai i tō rōpū hauora. Ka taea e te iti o te whakahaere i mua te mahi nui ake i te haerenga.

Tuhia ō tohu me te wā i kite tuatahi ai koe i a rātou. Whakauruhia ngā kōrero mō ngā mahi kua uaua ake me te tere o ngā huringa.

Kohikohia tō hītori hauora whānau, ina koa ngā whānau he mate uaua, he āhuatanga ira rānei. Ka taea e ēnei korero te mea nui mō te whakatau me te tohutohu ira.

Hangahia he rārangi o ngā rongoā, ngā taapiri, me ngā huaora katoa e inu ana koe. Whakauruhia ngā rāpoi me te roa o tō inu i ia mea.

Whakaritea ngā pūrongo mō tō āhuatanga, ngā kōwhiringa maimoatanga, me te mea e tatari ana koe ki te haere whakamua. Kaua e manukanuka ki te ui i ngā pūrongo maha - e hiahia ana tō rōpū hauora ki te awhina i a koe ki te mārama ki tō āhuatanga.

Whakaarohia te kawe mai i te mema whānau, i te hoa rānei ki te hui. Ka taea e rātou te awhina i a koe ki te maumahara i ngā korero i kōrerohia, ki te whakarato rānei i te tautoko hinengaro i te wā pea he kōrero uaua.

He aha te mea nui mō te mate uaua?

Ko te mate uaua e tohu ana ki te rōpū o ngā āhuatanga ira e puta mai ana te ngoikore o ngā uaua, engari ehara tenei i te mutunga o tō kōrero me te whakatau. He tokomaha ngā tāngata he mate uaua e ora ana i ngā oranga tino nui, whai tikanga me ngā rautaki tautoko me te whakahaere tika.

Ko te whakatau wawe me te tiaki whakamua e whakarereke nui ana i ngā hua. Ko te mahi tata atu ki te rōpū hauora e whakauru ana i ngā tohunga, ngā kaiwhakaora, me ētahi atu tohunga tautoko e awhina ana i a koe ki te whakatūpato i ngā raruraru me te pupuri i te kounga o te ora.

Kei te haere tonu te tirohanga o te maimoatanga, me ngā rongoā hou me ngā whakaaturanga e whanakehia ana i ia wā. Ko te noho mohio ki ngā whakahaere me te pupuri i te tumanako mō te heke mai he mea nui ano ki te whakahaere i ngā wero o ia rā.

Kia mahara ko te whai i te mate uaua kaore e pā ana ki a koe anake, engari ki tō whānau katoa me tō whatunga tautoko. Ko te rapu i te tautoko hinengaro, te hono atu ki ētahi atu e mārama ana ki tō wheako, me te pupuri i te kōrero whakatuwhera ki ngā aroha e whakakaha ana i te katoa e pā ana.

Ngā pūrongo e ui pinepinetia ana mō te mate uaua

He tuku ika ika te mate uaua i ngā mātua?

Ko te nuinga o ngā take o te mate uaua he tuku ika ika, engari ko te toru o ngā take e puta mai ana i ngā mutations ira hou kaore i te noho i tetahi o ngā mātua. Ko te tikanga ka taea te puta mai te mate uaua ahakoa kaore he hītori whānau o te āhuatanga.

Ka taea te kite i te mate uaua i mua i te whānautanga?

Ae, ka taea e te whakamātautau ira prenatal te kite i ngā momo mate uaua mena he hītori whānau mohio rānei he take tūponotanga motuhake. Ko tēnei whakamātautau e tukuhia ana i te nuinga mā te tohutohu ira, ā, ka taea te awhina i ngā whānau ki te mahi i ngā whakatau whai hua mō te haputanga me te mahere tiaki.

E pā ana te mate uaua ki te mohio, ki te mahi hinengaro rānei?

Ko te nuinga o ngā momo mate uaua kaore e pā tika ki te mohio, ahakoa ko ētahi momo pērā i a Duchenne pea ka hono atu ki ngā rerekētanga ako, ki ngā wero aro rānei. Ko te nuinga o ngā tāngata he mate uaua he kaha mohio noa, ā, ka taea te whai i te mātauranga me ngā mahi angitu.

Ka taea e te whakakorikori te kino ake i te mate uaua?

Ko te whakakorikori ngawari, tika he pai te nuinga, e kore e kino ake te mate uaua ina mahi tika. Heoi, ka taea e te whakakorikori kaha, te whakakorikori nui te pakaru atu o ngā uaua. Me mahi tonu me tō rōpū hauora ki te whakawhanake i te mahere whakakorikori haumaru e rite ana ki tō āhuatanga me ō kaha motuhake.

He aha te roa o te ora mō tetahi he mate uaua?

Ka rerekē te roa o te ora i runga i te momo mate uaua me te pehea o te whakahaere i ngā raruraru. Ko ētahi momo he iti te pā ki te roa o te ora, ko ētahi atu pea ka whakaiti i te roa o te ora. Ko ngā whakahaere i te tiaki hauora, ina koa te tautoko manawa me te ngākau, kua whakapai ake i ngā hua mō te tokomaha o ngā tāngata he āhuatanga.