Kei te ahua kino haere tō tinana? Tērā pea ko te mate Machado-Joseph?

Kua rongo koe i te mea kei te hikoi koe i waho o te mana whakahaere, kua ngoikore ō waewae, kua pōturi rānei ō kupu i a koe e kōrero ana? Ahakoa te āhua noa o ēnei mea, he tohu pea ēnei mō tētahi mate hauora. I tēnei rā ka kōrero tātou mō tētahi mate uaua, engari he mea nui kia mōhiotia. Ko te Mate Machado-Joseph (MJD) tēnā.

He aha te mate a Machado-Joseph (MJD)?

Ki te kī māmā noa, ko te mate Machado-Joseph (MJD) he mate tuku iho e pā ana ki tō tātou pūnaha io . Kei roto i tētahi kāwai e kiia nei ko te ataxia . He kupu hou pea ki a koe te "Ataxia". Ko tōna tikanga ka heke haere te kaha o tō tātou tinana ki te whakahaere i ngā uaua . Whakaarohia he rite ki te ngaronga o te taunga. Ka taea e tēnei te meinga kia ngaro te taurite me te mana whakahaere i ō tātou peka.

I roto i te MJD, inā koa, ka ngaro haere te taunga o ngā ringa me ngā waewae. Nā tēnei ka hikoi ngā tūroro i roto i te āhua rerekē, i te āhua taupatupatu . Tērā pea ka uaua ki ētahi tāngata te horomi me te kōrero.

He ingoa anō tō tēnei mate MJD, ko Spinocerebellar Ataxia momo 3. Ina hoki, ko tēnei MJD te momo tino noa o tēnei rōpū mate e kiia nei ko te spinocerebellar ataxia.

He rerekē ngā momo mate Machado-Joseph (MJD)?

Ae, e toru ngā momo matua o te mate Machado-Joseph. Ko ēnei whakarōpūtanga e hangai ana ki te tau i tīmata ai me te kaha o ngā tohu.

• Momo I (MJD-I): Ka tīmata tēnei momo i waenga i te 10 me te 30 tau te pakeke. Ka tino kino ngā tohu, ā, ka tere te whanake .
• Momo II (MJD-II): Ka tīmata tēnei i waenga i te 20 me te 50 tau te pakeke. Ka kino haere ngā tohu i te roanga o te wā.
• Momo III (MJD-III): Ka tīmata tēnei momo i waenga i te 40 me te 70 tau te pakeke. Ka kino haere ngā tohu i te roanga o te wā .

Kua mārama pea koe ināianei he rerekē te tīmatanga o ngā tohu me tōna āhua mō ia momo e toru.

He aha ngā tohu o te mate Machado-Joseph (MJD)?

Ko ngā tohu e pā ana ki a koe ka whakawhirinaki ki te momo MJD kei a koe.

Ngā tohumate Momo I (MJD-I)

He kino rawa ngā tohu o tēnei momo, ā, ka tere te whanake. Kei roto pea i ēnei:

• Ngā whakaheke uaua kāore e taea te whakahaere i roto i ngā ringa me ngā waewae (dystonia) .
• Te pakari o te uaua (te pūmau) .
• He nui rawa te oro o ngā uaua (hypertonia) .
• Ngā nekehanga tinana rerekē, kāore i te whakahaerehia (ataxia) .
• Te hikoi whakangaueue, te nekeneke haere.
• Kōrero pōturi, kōrero pōturi.
• Te uaua ki te horomi kai (dysphagia) .
• Ngā kanohi e kokiri ana (proptosis) .

Ngā tohumate Momo II (MJD-II)

Ka kino haere ngā tohu o tēnei momo i te roanga o te wā. Tērā pea ko ēnei:

• Te whakaheke uaua tonu, kāore e taea te whakahaere (te kore e taea te nekeneke) .
• Te uaua ki te hikoi nā te mimiti o te uaua (te ara hīkoi koretake).
• Te ngoikore o ngā whakaata.
• He uaua ki te whakarite i ngā nekehanga o ngā ringa me ngā waewae (ataxia) .

Ngā tohumate Momo III (MJD-III)

Ka kino haere hoki ngā tohu o tēnei momo i te roanga o te wā. Tērā pea ko ēnei:

• Te wiri o ngā uaua.
• Te ngenge, te mākūkū, te mamae, me te ngenge o ngā ringa, ngā waewae, ngā waewae, me ngā waewae (neuropathy) .
• Te ngoikore o te uaua (te ngaronga o te kiko uaua - te memeha haere ).
• Te hikoi pōturi.

Ētahi atu tohu noa

Haunga ēnei momo, ka pāngia pea ngā tūroro MJD e ētahi atu tohu:

• Te tirohanga takirua (diplopia) .
• Te kore e taea te whakahaere i ngā nekehanga o ngā kanohi (nystagmus) .
• Te wiri o te ringa.
• Ngā raruraru ki te taurite me te taunga.
• Te wiri o te arero, o te kanohi rānei.
• Ngā mate moe.
• Te mamae mau tonu o te tuara o raro.

He mea nui: Ina puta ngātahi ēnei tohu, ka whakaaro pea koe mēnā he tohu ēnei mō tētahi atu mate pūnaha io, pērā i te sclerosis maha , te mate a Parkinson rānei. Nō reira, ki te puta mai he tohu hou ki a koe, ki te kino haere rānei tētahi tohu o mua, inā koa mēnā ka pā ki tō nekehanga me tō whakamahinga o tō tinana, me toro atu ki te tākuta tonu.

He aha te take o te mate Machado-Joseph (MJD)?

Ko te tino take o tēnei mate he whakarerekētanga ira i roto i ō tātou ira . He rite ki tētahi hapa iti i roto i tētahi waehere rorohiko ka taea te whakararu i te hōtaka katoa.

Ina koa, ka puta tēnei whakarerekētanga ira i roto i tētahi ira e kiia nei ko ATXN3 i runga i tō tātou ira 14. I roto i tētahi wāhanga o te DNA i roto i tēnei ira, kei reira ngā tāruarua trinucleotide e kiia nei ko "CAG".He mea e kiia ana ka whakahokia i ngā wā maha i roto i tētahi huarahi rerekē. Ko te CAG he whakarāpopototanga mō ngā matū e toru, arā, ko te Cytosine-Adenine-Guanine.

I roto i te DNA o te tangata kāore he MJD, ka tuaruatia tēnei whakahokinga CAG i waenga i te 12 me te 43 ngā wā. Heoi, i roto i te DNA o te tangata whai MJD, ka tuaruatia tēnei whakahokinga CAG i waenga i te 56 me te 86 ngā wā. Ko te tau ka tīmata ai koe ki te puta o ngā tohu me te kaha o te mate e pā tika ana ki te maha o ngā whakahokinga CAG.

Ka tukuna iho te mate i runga i te tikanga autosomal dominant . Ko te tikanga, kotahi anake te mātua e hiahiatia ana e te tamaiti kia whiwhi i te ira hei whakawhanake i te mate. Mena kei a koe te MJD, e 50% te tūponotanga ka riro i tāu tamaiti te mate.

Ko wai kei te nui ake te mōrearea ki te pāngia e te mate Machado-Joseph (MJD)?

Ko te MJD te mea tino noa i waenga i te hunga nō Azorean, nō Pōtikī rānei . I te moutere o Flores i Azores, e ai ki ngā pūrongo kotahi i roto i te 140 tāngata te mate nei. Heoi, ehara tēnei i te kī kāore ētahi atu iwi e pāngia. Ka taea te pā ki te hunga nō tetahi iwi.

Me pēhea te tautuhi i te mate Machado-Joseph (MJD)?

Ina kite koe i tētahi tākuta, ka pātai ia mō ō tohumate, ā, ka tirotirohia hoki e ia tōna tinana. Nā te mea he whānau tēnei mate, he mea nui kia kōrerohia tō hītori whānau. Mena kei tētahi atu o tō whānau ēnei tohumate, he mea nui anō hoki kia pātaihia te wā i tīmata ai ō rātou tohumate, me te tere o te whanaketanga.

Hei whakaū i te mate, ka tūtohu pea tō tākuta kia whakamātauria he whakamātautau ira mō te mate Machado-Joseph . Ka taea e tēnei whakamātautau ira te rapu i te maha o ngā tāruarua CAG whakapae i runga i tō ira 14.

Me pēhea te rongoā i te mate Machado-Joseph (MJD)?

Engari, kāore he rongoā mō te mate Machado-Joseph. Ko te maimoatanga mō te MJD he whakahaere i ngā tohumate kei a koe. Kei roto pea i ngā rongoā:

• Ka āwhina ngā rongoā pēnei i te Baclofen (Lioresal®) me te Botulinum toxin (Botox®) ki te whakaiti i te dystonia me ngā uaua e pupuhi ana i runga ake nei.
• Ka āwhina te rongoā levodopa ki te whakaiti i te puhoi me te pakari o ngā nekehanga o te tinana.

Hei tāpiritanga, ka taea e te whakaora tinana me ngā taputapu āwhina te āwhina i ngā tūroro ki te mahi i ngā mahi o ia rā, me te neke haere. Mō ngā raruraru tirohanga, ka taea e ngā mōhiti prism te āwhina ki te whakaiti i te tirohanga takirua, te tirohanga pōuri rānei.

Pātai atu ki tō tākuta mō ngā whakamātautau haumanu mō tēnei mate.

He aha te roanga o te oranga o te tangata e pangia ana e te mate Machado-Joseph (MJD)?

Ko te roanga o te oranga o te tangata whai MJD e whakawhirinaki ana ki te momo mate e pāngia ana e rātou. Tērā pea he poto ake te roanga o te oranga o te hunga whai momo I, arā, kei waenganui o te 30 tau pea. Heoi, ko te hunga whai momo II, momo III rānei, he roanga noa iho te oranga.

Ka taea te ārai i te mate Machado-Joseph (MJD)?

Nā te mea he mate ira te MJD, kāore e taea te ārai. Mena kei te āwangawanga koe kei riro i āu tamariki te mate, he mea nui kia kōrero koe ki tētahi kaitohutohu ira i mua i te whakamahere i te haputanga. Tērā pea he huarahi hei ārai i te tukunga o te MJD ki āu tamariki mā te whakamātautau ira me te Whakatō In Vitro (IVF) .

Āhea ahau me toro atu ki te tākuta?

Mena kei a koe ētahi tohu o te mate Machado-Joseph, tirohia he tākuta. Mena kei roto i tō whānau tētahi o te mate, he mea pai kia kōrero koe ki tō tākuta mō tō tūponotanga ki te pangia e te mate.

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

Mena kua tāpaetia koe kei te mate MJD, ka hiahia pea koe ki te pātai atu ki tō tākuta i ngā pātai penei:

• He aha te momo mate kei a au?
• Ka kino haere aku tohumate i roto i te wā?
• He aha te momo maimoatanga e taunaki ana koe?
• Ka riro mai i aku tamariki te MJD i ahau?

He mea noa te maha o ngā pātai me ngā kare ā-roto ina whiwhi koe i tētahi tātaritanga pēnei i te mate Machado-Joseph (MJD). Tonoa te tautoko mai i te hunga e tata ana ki a koe. Me whai wāhi atu hoki ki tō maimoatanga - kia mau ki ō wā whakarite, whai i ngā tohutohu a tō tākuta, me te pātai atu. Ka taea hoki e koe te kōrero ki tētahi kaitohutohu hauora hinengaro kia ako ai koe ki te whakatau i tēnei mate. Kaua e huna i ō kare ā-roto. Kōrero ki ngā hoa, ki tētahi kaitohutohu, ki tētahi rōpū tautoko rānei. Kia mahara, ehara koe i te mea ko koe anake.

Karere Tangohia ki te Kāinga

He mate tuku iho te mate Machado-Joseph (MJD) e pā ana ki tō tātou pūnaha io. Ka pā pea ki ngā mea pēnei i te taurite me te whakahaere uaua. He rerekē ngā tohu i runga i te momo mate.

Ahakoa kāore anō kia kitea he rongoā mō tēnei, kei reira ngā maimoatanga hei āwhina i te whakahaere i ngā tohu. Ka taea e ngā mea pēnei i te whakaora tinana me ngā taputapu āwhina te whakangawari ake i te oranga. Mena kei a koe ēnei tohu, kei tētahi rānei o tō whānau e pāngia ana e tēnei mate, he pai ake te rapu tohutohu hauora i te wā e taea ai. Kia maumahara, mā te mōhiotanga tika me te tautoko tika, ka taea e koe te whakatau i tēnei mate.

` Mate Machado-Joseph, MJD, Spinocerebellar ataxia, ataxia, mate neurological, mate ira, mate tuku iho