He uaua anō hoki tō hikoi, tō mahi rānei? Kei te ahua kei te ngaro tō taurite? Me kōrero tāua mō tēnei (Spinocerebellar Ataxia)?

Kei te ahua pēhia ō waewae i a koe e hikoi ana? Kei te ahua rānei kāore e taea e koe te pupuri tika i te kapu i roto i tō ringa? Tērā pea ka puta he kupu pōturi i a koe e kōrero ana. Ki te puta ēnei mea i te wā kotahi, i te wā e rua rānei, engari he maha ngā wā i te wā kotahi, ehara i te mea me wareware noa iho. I tēnei rā ka kōrero tātou mō tētahi take pea o tēnei, arā, he mate e kiia nei ko te 'Spinocerebellar Ataxia' (ka kiia e tātou ko te 'SCA').

He aha te 'Spinocerebellar Ataxia (SCA)'? Kia mārama noa iho.

Ko te Ataxia, i te whakarapopototanga, he āhuatanga e ngaro haere ai tō kaha ki te whakarite i ngā nekehanga o tō tinana . He mea tēnei e pā ana ki tō pūnaha io, ā, ka kino haere i te roanga o te wā. Whakaarohia te ngaro o tō kaha ki te neke i ō ringa me ō waewae, te hikoi, te pupuri rānei i tētahi mea. He maha ngā momo ataxia, he take me ngā tohu motuhake tō ia momo.

Ko te Spinocerebellar Ataxia (SCA) tētahi atu momo ataxia, ā, he mate ira . Ka pā te nuinga ki tō cerebellum . He wāhanga tino nui te cerebellum o tō roro. Ka whakahaere i ngā mea pēnei i tō hikoi, tō hopu, me tō pupuri i tō taurite. I ētahi wā, ka pā anō hoki te SCA ki tō taurakira .

Nā te mea he tuku iho tēnei, ka piki haere ngā tohu i roto i te wā. Kāore koe e kite i tētahi rerekētanga nui i te wā tonu. Ko te nuinga o tēnei ka pā ki ō:

• Mō te mahi a ngā kanohi.
• Mō ngā mahi ā-ringa (hei tauira, te tuhituhi, te pupuri i te kapu, te kai).
• Te ngaronga o te mahi a ngā waewae me te kaha ki te hikoi (te ngaronga o te taurite).
• Te āhua o tāu kōrero (ka raruraru ngā kupu).

Ko te mea e kōrerotia ana te mea tino pānga.

E hia ngā momo `SCA` kei reira?

I tēnei wā, kua kitea e ngā tākuta me ngā kaipūtaiao neke atu i te 40 ngā momo SCA. Tērā pea ka piki ake tēnei tau ā muri ake nei, i te mea kei te haere tonu ngā rangahau. Ka karangatia ēnei momo SCA e ngā tākuta mā ngā tau. Hei tauira, ko te Spinocerebellar Ataxia momo 1, momo 2, me ētahi atu.

He rite tonu ngā take me ngā tohu o ēnei momo SCA katoa. Nō reira, tera pea koe e whakaaro he aha i tātaitia ai. Ka hoatu ngā tau i roto i te raupapa i kitea ai ngā huringa ira e pā ana ki ia momo SCA. He māmā noa iho, ko te SCA1 te momo tuatahi ka kitea, ā, e hono ana ki tētahi raruraru ira e tukuna iho ana i roto i ngā whakatipuranga. Ko te SCA2 te momo tuarua i kitea. Koinei te ingoa o ēnei.

Ko te momo SCA tino kitea ko te Spinocerebellar Ataxia momo 3 (SCA momo 3) . E mōhiotia ana hoki ko te mate Machado-Joseph .

Nā, he pēhea te noa o tēnei 'SCA'?

He tino onge tēnei āhuatanga e kiia nei ko te 'SCA'.Arā, ehara i te mate e pāngia ana e te katoa. E ai ki ngā tatauranga, kotahi (1) i roto i te rau mano tāngata ka pāngia e tēnei mate, e rima (5) rānei te nui rawa. Nō reira, he mea noa te kore e rangona pinepinetia.

He aha i puta ai tēnei 'SCA'? He aha te take?

Ko te tino take o te SCA he whakarerekētanga ira . Ko te tikanga he hapa kei roto i ngā ira i riro mai i ō mātua. Kua honoa e ngā tohunga ēnei hapa ira motuhake ki ngā momo SCA maha. Heoi, ehara i te mea ko ngā momo SCA katoa i puta mai i te whakarerekētanga ira kotahi, engari nā ngā rerekētanga o ngā ira rerekē.

Ko ētahi momo SCA ka puta mai i te maha o ngā wā e tāruaruatia ana tētahi wāhanga motuhake o tō DNA (te wāhanga e penapena ana i ō tātou mōhiohio ira). Ka kiia tēnei he trinucleotide repeat expansion i roto i te reo hauora. He ahua uaua, engari i roto i ngā kupu māmā, he rite ki te tāruaruatanga o tētahi wāhanga o tētahi ira i ngā wā maha rawa.

E rua ngā huarahi matua e tukuna ai tēnei mate `SCA`:

1. Te Tuku Iho ā-Iwi Matua:

• Koinei te tuku iho i te nuinga o te wā.
• Ko te mea ka tupu i tēnei kēhi, ahakoa ka riro mai i a koe tēnei ira kua whakarerekētia i te kotahi o ngā mātua , arā, i tō whaea, i tō pāpā rānei, ka taea tonu e koe te pāngia e tēnei mate.
• Ko te tikanga o tēnei, ki te whānau he tamaiti mā te tangata whai `SCA`, e 50% te tūponotanga ka riro i taua tamaiti tēnei ira kua whakarerekētia. Whakaarohia he rite ki te tūponotanga ka tau he upoko ki te moni. He rite tonu tēnei tūponotanga mō ia tamaiti.

2. Te Tuku Iho ā-Iwi:

• Tērā anō ētahi momo 'SCA' ka tukuna iho pēnei, engari he iti ake te kitea.
• I tēnei āhuatanga, kia pāngia ai te tangata e tēnei āhuatanga, me riro i a ia tēnei ira rerekē mai i tōna whaea me tōna pāpā.
• I te nuinga o te wā, kāore ēnei mātua e whakaatu i ngā tohu. Tērā pea he kaikawe noa iho rātou i te ira. Kotahi noa te tārua o te hapa ira kei a rātou, nō reira kāore rātou e pāngia e te mate.

He aha ngā tohu o te SCA?

Ko ngā tohu o te SCA ka tīmata i muri i te 18 tau te pakeke. Heoi, ka taea e ētahi momo SCA te tīmata wawe, ko ētahi ka tīmata i muri mai. Ehara i te mea ka puta ohorere mai, engari ka haere mārire, i roto i ngā tau, ka kaha haere ngā tohu.

Whakaarohia, ina haere koe ki te hanga tī, ka pupuri i te ipu wai, ka wiri tō ringa, ka taka ngā rau tī, ina hikoi rānei koe i te huarahi, ka paheke noa koe ki te taha ka hinga. He tino uaua te ahua ina piki koe, ina heke iho rānei i ngā arawhata. Mena he maha ngā wā ka puta mai ēnei mea, he mea nui kia tiakina.

Ko ngā tohu tino noa o te SCA ko:

• Ngā nekehanga kanohi koretake:Me te mea kāore e taea e koe te pupuri i ō kanohi i te wāhi kotahi, kei te tere haere rānei te kopikopiko mai i tētahi taha ki tētahi taha.
• Te ngoikore o te mahi tahi a te ringa me te kanohi: Hei tauira, he uaua ki te pupuri tika i te karāhe wai, he uaua ki te pātene i te hāte, he uaua rānei ki te tuhituhi mārama.
• Ngā raruraru ki te taurite me te taunga o te tinana: Ka rite te hikoi ki te mea ka tūtuki, ka hinga rānei. Ka uaua hoki te tū tika.
• Kōrero pōturi: Kōrero pōturi , e kore ai e taea te whakapuaki tika i ngā kupu, ka kore ai e mārama te kōrero. Me te mea kua herea te arero.
• Ngā uaua ki te tukatuka me te maumahara i ngā mōhiohio / ngā ngoikoretanga ako: He uaua ki te ako i ngā mea hou, he tere te wareware i ngā mea kua kōrerotia, me te uaua ki te arotahi.
• Te hikoi kore taunga: Te hikoi me te mea kei te haurangi, me te mea kāore e taea te pupuri i ō waewae kia tika, me te mea kei te ngana koe ki te hikoi me ō waewae e wherahia ana.

Ka rerekē ēnei tohu i ia tangata, i ia tangata, ā, ka rerekē anō hoki tōna kaha i runga i te momo SCA.

Me pēhea te tautuhi a ngā tākuta i te SCA?

Mena kei a koe ēnei tohu, ina kite koe i te tākuta, ki te whakapae rātou kei a koe te SCA, ka whakamātauria koe e rātou mō ngā mea e whai ake nei hei whakatau i te mate:

• Tō hītori whānau: Ka pātaihia koe mēnā kua pāngia tētahi o tō whānau e ēnei tohu i mua, mēnā rānei he tangata kei a ia tēnei mate, arā, te SCA. He mea tino nui ēnei mōhiohio nā te mea ka horapa i roto i ngā whānau.
• Tō hītori hauora whaiaro: Ka pātai atu rātou mō ētahi atu mate kua pā ki a koe i mua, ngā rongoā e tangohia ana e koe, me tō āhua noho.
• He whakamātautau tinana katoa: Kei roto i tēnei ko ngā whakamātautau e pā ana ki tō pūnaha io. Ka tirohia tō taurite, tō hikoi, tō kaha o ō ringa me ō waewae, ō urupare, tō nekehanga kanohi, me tō kōrero.
• Ka āta tirotirohia koe e rātou kia kite mēnā he tohu kei a koe e pā ana ki te SCA.

I muri i ēnei mea, ka taea te whakahaere i ētahi atu whakamātautau hei whakaū i te mate:

• Whakamātautau ira: Koinei te huarahi matua hei mōhio māu mēnā kei a koe te SCA. Ka tangohia he tauira o tō toto (tērā pea he tauira huware) ka whakamatautauria mō te ira e pā ana ki te SCA. He maha ngā momo SCA ka taea te kitea mā tēnei whakamātautau ira.
• Heoi anō, kei reira ētahi momo SCA kāore anō kia tautuhia he whakarerekētanga ira motuhake mōna. Nō reira, i roto i ēnei āhuatanga, he uaua ki te whakaū mā te whakamātautau ira anake.
• I taua wā, ka tirohia tō roro e ngā tākuta mō ngā āhuatanga rerekē.Tērā pea ka mahia he matawai motuhake. Ko te mea tino noa ko te matawai MRI (whakaahua aukume) . Mā tēnei ka kitea ngā tohu o te ngoikore o tō roro iti. I ētahi wā ka mahia hoki he matawai CT (tomography rorohiko) .

Waihoki, ko te hunga e whakaaro ana kua riro mai i a rātou te whakarerekētanga ira nā te mea he SCA kei roto i tō rātou whānau, ka taea te whiwhi i tēnei whakamātautau ira. He mea tino nui tēnei mō te hunga e whakamahere ana ki te whakatū whānau, arā, mō te hunga e whakamahere ana ki te whānau tamariki, kia whakatau ai rātou. Waihoki, ina tata te whānautanga o te tamaiti, arā, i te wā e hapu ana, ka taea te tirotiro mēnā kei te pēpi tēnei mate (whakamātautau i mua i te whānautanga) .

He rongoā kei te wātea mō tēnei `SCA`? Ka taea te whakaora?

Koinei te mea e hiahia ana te katoa kia mōhio. Engari, kāore anō kia kitea he rongoā mō te `Spinocerebellar Ataxia (SCA)` i tēnei wā. Tērā pea ka pouri koe ina rongo koe i tēnei, ā, he mea noa tēnā.

Heoi, ehara i te mea kāore e taea te mahi i tetahi mea. Ko ngā whāinga matua o te rongoā i te SCA ko:

• Te whakaiti i ngā tohu.
• Te whakapai ake i te kounga o te oranga.
• Hei āwhina i a koe ki te mahi takitahi mō te roa e taea ai.

Ka taea te whakamahi i ēnei hei rongoā mō te `Spinocerebellar Ataxia`:

• Whakaora tinana: He mea tino nui tēnei. Mā te kaiwhakaora tinana koe e ako ki te whakakorikori tinana tika, ki te whakapakari i ō uaua, ki te whakapai ake i tō taurite, me te whakapai ake i tō momo hikoi.
• Whakaora mahi: Ka āwhina i a koe ki te waihanga i tō taiao hei āwhina i a koe ki te mahi i ngā mahi o ia rā (hei tauira, te kai, te whakakakahu, te tuhituhi) me te ako i ngā tikanga hei āwhina i a koe ki te mahi pera.
• Whakaora kōrero: Mena he pōturi te kōrero, he uaua rānei ki te horomi kupu, ka taea e te kaiwhakaora kōrero te āwhina.
• Ngā taputapu āwhina: I te haere whakamua o te mate, ā, ka uaua te hikoi, me whakamahi pea koe i ngā tokotoko, i te taputapu hikoi, i te tūru wīra rānei. Ka taea e ēnei te āwhina i a koe ki te mahi i ngā mea māu ake.
• Ngā rongoā hei whakaiti i ētahi tohu: Ka tohua pea e ngā tākuta he rongoā hei āwhina i ngā mea pēnei i te wiri, te pakari, te wiri o ngā uaua, te kore moe, me te pouri. Heoi, kāore ēnei rongoā e whakaora i te SCA, engari ko ngā tohu anake ka whakahaere.

Kei te rapu tonu ngā tākuta me ngā kairangahau i ngā maimoatanga hou me ngā huarahi hei āwhina i te hunga whai SCA, hei whakahaere i taua mate, me te kimi huarahi hou hei rongoā. Nō reira kaua e mutu te tumanako.

He ara hei aukati i te whanaketanga o te `SCA`?

He pātai tēnei e pātaihia ana e te tini tāngata. Ki te pono, kāore anō kia kitea he tikanga kua whakamātauhia hei ārai i te SCA i tēnei wā.Nā te mea ko ngā āhuatanga ira te take nui o tēnei, kāore e taea e tātou te aukati i tēnei mea mā roto i tā tātou e kai ana, e inu ana rānei, mā roto rānei i te whakakori tinana e mahia ana e tātou.

I muri i te whakaūnga o te whakamātautau ira kei roto i tō rātou whānau tēnei whakarerekētanga ira, ka whakatau pea ētahi whānau kia kaua e whānau tamariki. Koinei anake te huarahi tino tika hei ārai i te tuku iho o te mate ki te whakatupuranga e whai ake nei. He whakatau tino tairongo, he whakatau whaiaro hoki tēnei. He mea tino nui te kōrero ki tētahi kaitohutohu ira i mua i te whakatau i tēnei momo whakatau.

He aha ngā mea ka taea e te tangata whai SCA te tumanako ā muri ake nei?

Mō te heke mai o te tangata whai SCA, he mea nui kia mōhio he rerekē rawa i ia tangata, i ia tangata . He maha ngā āhuatanga e whakawhirinaki ana ki tēnei, tae atu ki te momo SCA kei a koe, tōna kaha, me te tau i tīmata ai ngā tohu.

Heoi, i roto i te nuinga o ngā take o te SCA, ka kino haere te mate, ka mate wawe.

Ka rerekē anō hoki te tere o te whanaketanga o te mate i runga i te momo me te kaha o te SCA. Nō reira, ka taea e te whakamātautau ira te āwhina i te whakatau ehara i te mea ko te aha te mate anake, engari ko te aha hoki kei te heke mai.

He tokomaha te hunga e hiahia ana ki te tūru wīra i muri i te 10 ki te 15 tau i muri i te tīmatanga o ngā tohu tuatahi. He mea noa mō te hunga whai SCA te hiahia āwhina i ngā mahi o ia rā, pērā i te kaukau, te whakakakahu, me te taka kai.

He aha atu anō ngā mea me pātai atu e au ki taku tākuta mō te SCA?

Mena kei a koe te `Spinocerebellar Ataxia (SCA),` mena kei tētahi o tō whānau rānei tēnei mate, he mea tino nui kia pātai atu koe ki tō tākuta i ēnei pātai:

• He aha te momo `SCA` kei a au? (hei tauira, `SCA1, SCA2, SCA3`?)
• He aha ngā mahi o tōku tinana e tino pāngia ana e tēnei momo 'SCA'?
• He aha ngā momo tohunga (hei tauira, te tākuta roro, te kaiwhakaora tinana) me toro atu ahau hei whakahaere i tēnei mate?
• Kia hia ngā wā me haere mai ahau ki te tirotiro hauora? He aha ngā whakamātautau motuhake me mahi?
• He aha ngā maimoatanga e wātea ana ki ahau i tēnei wā? He aha ngā painga?
• Ka taea e tēnei āhuatanga te whakapoto i tōku roanga ora? (He pātai uaua tēnei ki te pātai, engari he mea nui kia mōhio.)
• Ka taea e aku tamariki te tuku iho i tēnei mate? Mena koinā, he aha te tūponotanga?
• He mea pai kia whakamātauria ngā ira o ētahi atu mema o tōku whānau (hei tauira, ngā tuākana, ngā teina, ngā tamariki)?
• He aha ngā momo rōpū tautoko e mōhio ana koe hei āwhina i ahau ki te noho i roto i tēnei āhuatanga, kia kaha ai hoki tōku hinengaro? He rōpū pēnei kei Sri Lanka?

Kaua e wehi ki te pātai i ēnei pātai. Mā te mārama ake ki tō āhuatanga, ka māmā ake te noho tahi me ia.

Me aha ahau kia ora pai ai me te SCA?

He mea noa te nui o ngā pātai, te wehi, te pouri, me te riri ina kitea he SCA tōu. He rite tonu mō te katoa. Kāore koe i te mokemoke. Mā ēnei e whai ake nei koe e āwhina ki te whakatau i tēnei āhuatanga uaua, me te whakahaere pai ake:

• Tonoa he āwhina me te tautoko mai i te hunga e whakawhirinaki ana koe, ā, e tata ana ki a koe (te whānau, ngā hoa) . Kaua e raru i ēnei mea ko koe anake. Kōrerohia ō kare ā-roto ki a rātou.
• Kia kaha te whai wāhi atu ki tāu maimoatanga . Haere ki ngā wā whakarite a tō tākuta, āta whai i ana tohutohu, pātaihia ō pātai, ā, mahihia ngā mahi pēnei i te whakaora tinana.
• Whakaarohia te kōrero ki tētahi kaiwhakatakoto whakaaro hauora hinengaro, ki tētahi tohunga hinengaro rānei . Ka taea e rātou te āwhina i a koe ki te whakatau i tēnei āhuatanga, ki te ako me pēhea te whakatau, me te whakapakari ake i tō hinengaro.
• Kaua e huna ō kare ā-roto, kaua hoki e warewaretia . Tangi mēnā kei te pouri koe, whakapuakina mēnā kei te riri koe (engari kia kore ai e pāngia ētahi atu).
• Ki te taea, uru atu ki tētahi rōpū tautoko hei tūtaki ki ētahi atu e pāngia ana e ngā wero ōrite ki a koe. Mā tēnei ka āwhina i a koe kia iti ake te noho mokemoke, ā, ka taea hoki e koe te ako mai i ngā wheako o ētahi atu.
• Kia pono ngā tumanakohanga . Kia mārama ki ngā mea ka taea e koe, me ngā mea kāore e taea e koe te mahi. Tērā pea me whakarērea e koe ētahi mea, nō reira kia rite mō tēnā.
• Kaua e pouri mō te kore e taea e koe te mahi i ngā mea i taea e koe i mua, engari arotahi ki ngā mea ka taea tonu e koe te mahi . Ngāna kia harikoa ahakoa ngā mea iti.
• Kai i ngā kai pai, kai totika, whakakori tinana i ngā wā katoa e taea ana, ā, kia nui te moe. He pai ēnei mea mō tō hauora whānui.

Kia maumahara, he wāhanga noa iho o tō oranga te SCA. Kaua e tukua kia tautuhia rawatia koe e ia. Kei a koe tonu te whānau aroha, ngā hoa, me ngā mea ka taea tonu e koe te mahi.

Nā, he aha ngā mea hei ako mā tātou i tēnei pūrākau?

Ko te Spinocerebellar Ataxia (SCA) he mate ira e pā ana ki te roro, ā, i ētahi wā ki te taurakira. Ko te nuinga o te wā ka pā ki te taurite me te whakaritenga o ngā nekehanga o te tinana. Ka piki haere te kino o te mate i roto i te wā.

Ko te mea tino nui ko:

• Kāore anō kia kitea he rongoā motuhake mō te SCA i tēnei wā . Heoi anō, kei reira ngā maimoatanga (pēnei i te whakaora tinana, ngā taputapu āwhina, me ngā rongoā) hei whakahaere i ngā tohu me te whakangāwari ake i te oranga.
• Mena kei a koe ngā tohu e pā ana ki te `SCA`, rapua tonutia he tohutohu hauora . Mā te tautuhi wawe i te mate ka āwhina i a koe ki te tīmata maimoatanga.
• I te mea he mate ira tēnei, he mea nui kia mōhio te whānau ki tēnei, ā, ki te tika, me whai tohutohu me te whakamātautau ira .
• He wero te noho tahi me te SCA. EngariMā te tohutohu hauora tika, te tautoko a te whānau, me te kaha hinengaro, ka taea tēnei haerenga te whakatutuki.

Mena he pātai anō āu mō tēnei, kaua e mangere ki te kōrero ki tō tākuta.

` Te ataxia spinocerebellar, SCA, ataxia, taurite, pūnaha io, ngā mate ira, cerebellum, te mate Machado-Joseph