Kei te ngoikore haere hoki ō uaua? Tērā pea he mate roro ngoikore tēnei!

Kua rongo koe i te āhua o ō waewae pakari o mua kei te ngoikore haere, kei te ngoikore haere rānei? He uaua rānei ki a koe te whakatuwhera i tō ringa ina pupuri pūmau koe i tētahi mea? He mea ēnei kāore tātou e aro nui ana ki ēnei i ētahi wā, engari he tohu pea ēnei o tētahi mate e kiia nei ko te Myotonic Dystrophy . Me kōrero tātou mō tēnei mea i roto i ngā taipitopito me ngā kōrero māmā i tēnei rā.

He aha te Myotonic Dystrophy?

Ki te whakarapopoto, he mate ira uaua te Myotonic Dystrophy (DM). Ko te mea nui o tēnei ko te memeha haere o ngā uaua o te tinana, me te ngoikore haere. Kāore pea ngā uaua o te hunga whai mate nei e whakangāwari tonu i muri i te whakamahinga, engari ka noho pēpeke tonu. Ka kiia tēnei ko te myotonia . He rite ki te pupuri pūmau i te kakau tatau, ā, ka roa te wā e ngana ana ki te whakatuwhera.

He whānui rawa ngā tohu o te mate pukupuku myotonic (DM). Ka pāngia pea ētahi pūnaha o tō tātou tinana. Hei tauira:

• Ō tātou uaua angaanga (ngā uaua e whakahaerea ana e tātou i runga i te āta whakaaro) me ngā uaua ngākau.
• Ngā kanohi.
• Pūnaha manawa (pūnaha tohanga toto).
• Pūnaha endocrine (pūnaha homoni).
• Te pūnaha io matua (te roro me te taurakira).

He momo mate pukupuku myotonic kei reira?

Ae, e rua ngā momo matua o te DM:

1. Te mate pūkahukahu myotonic momo 1 (DM1): Ka kiia hoki tēnei ko te mate Steinert . E whā ngā momo momo o te DM1:

• Momo matarohia
• Momo ngawari
• Momo whānautanga (kei te whānau tonu)
• Momo tamarikitanga

2. Te mate pukupuku myotonic momo 2 (DM2): Ka kiia hoki tēnei ko te myopathy myotonic proximal .

He rite tonu ngā tohu o ngā momo e rua i ētahi wā. Heoi, he ngawari ake te DM2 i te DM1, arā, kāore i te tino kino ngā tohu.

He aha te rerekētanga i waenga i te Muscular Dystrophy me te Myotonic Dystrophy?

He mea tēnei e pōhēhē ana i te tini o te tangata. Ko te mate pūkahukahu he rōpū mate tuku iho (ira). Kei roto i tēnei rōpū neke atu i te 30 ngā momo mate. Ka ngoikore katoa ngā uaua. Ka taka ēnei ki roto i te wāhanga o te myopathy , he mate e pā ana ki ō tātou uaua angaanga. I roto i te wā, ka mimiti ngā uaua, ka ngoikore haere. Nā tēnei ka uaua te hikoi me te mahi i ngā mahi o ia rā. I ētahi wā ka pāngia hoki te ngākau me ngā pukahukahu.

Te Matepukupuku MyotonicHe momo mate tēnei nō te rōpū mate ngoikore uaua kua whakahuatia ake nei. Ko te mea motuhake ko tēnei mate ngoikore myotonic te mea tino noa i roto i ngā mate ngoikore uaua e tīmata ana i te pakeketanga. (Heoi, ka taea hoki e ētahi momo DM te tīmata i te wā pēpi, i te tamarikitanga rānei).

Ko wai ka pāngia e te mate pukupuku myotonic? He rerekētanga tau?

Ka taea e ngā momo DM rerekē te tīmata i ngā tau rerekē. Kia titiro tātou me pēhea:

• Te mate pukupuku myotonic momo 1 (DM1 Matarohia): Ka tīmata tēnei i te nuinga o te wā i ngā tau 20, 30, 40 rānei.
• Te mate pukupuku myotonic ngawari momo 1 (DM1 ngawari): Ka pāngia pea te hunga i waenga i te 20 me te 70 tau te pakeke. Engari he mea noa i muri i te 40 tau te pakeke.
• Te mate pūkahukahu myotonic momo 1 (DM1): E ai ki te kupu "whanau", he momo tēnei e pā ana ki ngā pēpi. Ko te tikanga kei roto mai i te whānautanga.
• Te mate pukupuku myotonic momo 1 o te tamarikitanga (Childhood DM1): Ka tīmata tēnei i te nuinga o te wā i te 10 tau te pakeke.
• Te mate pukupuku myotonic momo 2 (DM2): Ka tīmata anō hoki tēnei i te pakeketanga. I te nuinga o te wā ka tīmata ngā tohu i te 48 tau te pakeke.

He pēhea te noa o tēnei mate?

E pāngia ana te iti rawa o te 1 i roto i te 8,000 tāngata puta noa i te ao e te mate pukupuku uaua (DM). Heoi, ka rerekē pea tēnei tau i runga i te rohe whenua me te iwi. Ko te DM te momo mate pukupuku uaua tino noa i waenga i te hunga nō te uri Pākehā.

I te nuinga o ngā taupori, he nui ake te kitea o te DM momo 1 (DM1) i te DM momo 2 (DM2).

He aha ngā tohu o te Myotonic Dystrophy?

Koinei ngā tohu matua o te DM. Ka kino haere i roto i te wā, arā, ka kaha haere te kino:

• Te ngoikore o te uaua: Te ngoikore o te uaua.
• Ngoikoretanga o te uaua: Te ngoikore o te kaha o te uaua.
• Myotonia: Kua kōrerohia e tātou tēnei i mua. Ko te kore e taea te whakangāwari i te uaua. Hei tauira, ina hopukina e te tangata whai DM te kakau o te tatau, tera pea he uaua ki te tuku.

Heoi, nā te mea ka pāngia ngā wāhanga rerekē o te tinana e te DM, ka puta pea he maha atu ngā tohu. Ka rerekē te kaha o ēnei tohu me te tere o te whanaketanga i runga i te momo DM.

Ngā Tohu o te Dystrophy Myotonic Matarohia Momo 1

Ka tīmata ngā tohu o tēnei momo i te pakeketanga. Ko te myotonia te tohu matua ka kitea tuatahitia. Ka kitea ake tēnei i muri i te okiokinga, ā, ka iti haere pea i muri i te mahi a te uaua.

Ko ētahi atu tohu ko:

• Te ngoikore o te uaua tawhiti:Ko te tikanga o tēnei, ka ngoikore ngā uaua kei tawhiti atu i te pokapū o te tinana (hei tauira, ngā uaua o ngā ringa me ngā waewae). Nā tēnei ka uaua te mahi i ngā mahi ngāwari ki ngā ringaringa (hei tauira, te pātene, te tuhituhi). Ka uaua hoki te hikoi nā te āhua e kiia nei ko te taka o te waewae (me te mea kei te tō te raro o te waewae i te whenua).
• He kanohi angiangi, koi (he kanohi myopathic) nā te ngoikore o ngā uaua o te kanohi.
• Ngā āhuatanga rerekē o te rere o te ngākau .

Ngā Tohu o te Dystrophy Myotonic Congenital Momo 1

Nā te mea kei te whānau mai tēnei momo mate, ka kitea pea ētahi tohu i te pēpi i roto tonu i te kōpū:

• Te hekenga o te nekehanga o te kukune i roto i te kōpū.
• Ko te Polyhydramnios he nui rawa te wai amniotic e karapoti ana i te tamaiti i te wā e hapu ana.
• Waewae karapu ( te waewae e anga ana ki roto).
• Ventriculomegaly (te whakanui ake i ngā ventricles o te roro) (nā te kohikohinga o te wai cerebrospinal).

Ngā tohu e kitea ana i roto i ngā tamariki me ngā pakeke i muri i te whānautanga:

• He rite te āhua o te ngutu o runga ki te tēneti nā te ngoikore o ngā uaua o te mata.
• Te kōrero pōturi (Dysarthria) .
• Ngā hauātanga hinengaro.
• Engari ko te myotonia, ka heke te kaha o te uaua (Hypotonia) .

Ngā Tohu o te Dystrophy Myotonic Ngāwari Momo 1

Ko ngā tohu o tēnei momo ka tīmata i waenga i te 20 me te 70 tau te pakeke. Kei roto i ēnei:

• Te ngoikore ngawari o te uaua.
• Maiotonia (Maiotonia).
• Ngā katarata .

Ngā Tohu o te Mate Kōropiko Myotonic Momo 1 o te Tamarikitanga

Ko ngā tohu o tēnei momo ka tīmata i te 10 tau te pakeke. Kei roto i ēnei:

• Ngā uauatanga ako me ngā raruraru hinengaro-pāpori (hei tauira, ngā raruraru whānau, te pouri, te manukanuka).
• Kōrero pōturi.
• Te ngoikore o ngā uaua o ngā ringa.
• Ngā āhuatanga rerekē o te rere o te ngākau .

Ngā Tohu o te Myotonic Dystrophy Momo 2

Ko ngā tohu o te DM momo 2 ka tīmata i te pakeketanga, ā, ka rerekē pea.

Ko ētahi o ngā tohu ko:

• Te ngoikore, te kikī rānei o ngā uaua e tata ana ki waenganui o te tinana (hei tauira, ngā uaua huri noa i ngā hope me ngā pakihiwi).
• Te mamae o ngā uaua me ngā kiko honohono (mamae myofascial) .
• Te tīmatanga wawe o ngā katarata (i mua i te 50 tau te pakeke).
• Ka puta te myotonia o ngā nekehanga rerekē ina hopukina tetahi mea ki te ringa.
• Te ngoikore o te whakarongo.

He amuamu nui te mamae i waenga i te hunga whai DM2. E pūrongo ana ēnei tāngata i te mamae o te puku, ngā uaua angaanga, me te wā e whakakorikori tinana ana.

He aha te take o te Myotonic Dystrophy?

He mate ira te mate pūkahukahu myotonic (DM), arā, ka tukuna iho i ngā mātua ki ngā tamariki mā roto i ngā ira.

Ko te momo DM 1 (DM1) ka puta mai i ngā whakarerekētanga (ngā panonitanga) o te ira e kiia nei ko te DMPK . Ko te momo DM 2 (DM2) ka puta mai i ngā whakarerekētanga o te ira e kiia nei ko te CNBP .

Ko ngā panonitanga ōrite o te hanganga o ngā ira e rua, arā, te DMPK me te CNBP, ngā take o te DM1 me te DM2. I ia wā, ka maha ngā wā ka tāruatia he wāhanga o te DNA i roto i tētahi āhua rerekē. Ka hangaia he rohe kore pumau i roto i te ira. Ka nui ake ngā wā ka tāruatia tēnei wāhanga o te DNA i roto i tētahi āhua rerekē, ka kaha ake ngā tohu o te DM.

E ai ki ngā taunakitanga pūtaiao he paitini te nui rawa o te RNA karere e whakaputaina ana e ēnei tukurua DNA rerekē. Ka whakararuraru tēnei i te hanga o ngā momo pūmua i roto i ngā pūtau, ā, koinei te take o ngā tohu o te dystrophy myotonic i roto i ngā momo whekau.

Te tukunga iho o tēnei mate i tētahi whakatipuranga ki tētahi whakatipuranga (Myotonic Dystrophy Inheritance)

E rua ngā momo DM e tukuna iho ana i roto i tētahi tauira e kiia nei ko te autosomal dominant . I roto i tēnei tauira, kotahi anake te mātua me whai ira e pāngia ana kia tukuna ai te mate ki tētahi tamaiti. Ko te haurua o ngā tamariki a tētahi mātua he āhuatanga autosomal dominant tōna ka riro i a ia te āhuatanga.

I te mea ka tukuna iho te mate pukupuku myotonic momo 1 (DM1) mai i tētahi whakatipuranga ki tētahi whakatipuranga, ka rangatahi haere te pakeke o te tīmatanga, ā, ka kino haere ngā tohu. Ka kiia tēnei āhuatanga ko te anticipation . Me te mea nei kei te "tere haere" te mate mai i tētahi whakatipuranga ki tētahi whakatipuranga.

Me pēhea te tātaritanga o te Myotonic Dystrophy? (Tauātanga)

Mena kei a koe ngā tohu o te DM, ka tirohia tuatahitia koe e te tākuta, ā, ka pātai atu ki a koe mō:

• Tō hītori hauora whaiaro.
• Ngā hītori hauora o te whānau, inā koa mēnā he DM tō tetahi o te whānau.
• Ō tohumate.

Whai muri i tēnā, ka mahia pea ētahi whakamātautau hauora hei whakaū i te tautuhi mate o te DM.

He aha ngā momo whakamātautau e mahia ana?

Mā te whakamātautau ira ka taea te whakaū i te tautuhi i te mate DM. Ka rapua e ēnei whakamātautau ngā whakarerekētanga ira i roto i te ira DMPK (mō te DM1) i te ira CNBP rānei (mō te DM2).

Mena kei te whakapae tō tākuta kei a koe te DM, tētahi atu mate rānei, ka mahia pea e rātou tētahi, ētahi rānei o ēnei whakamātautau i mua i te tuku i a koe ki te whakamātautau ira:

• Whakamātautau toto mō te Creatine kinase: Ko te Creatine kinase he whākōkī e kitea ana i roto i te ngākau me ngā uaua angaiwi. Ina pakaru ēnei pūtau uaua, ka kohia tēnei whākōkī ki roto i te toto. Ko te hunga whai DM ngawari, tera pea he paku teitei ake tēnei taumata, he mea noa rānei.
• Te Irahiko-miokaramu (EMG):I tēnei whakamātautau, ka whakauruhia he hiko angiangi rite ki te ngira ki roto i te uaua, ā, ka inehia te ngohe hiko o ngā muka uaua. Ko te hunga whai DM he nui, he iti hoki te ngohe hiko i roto i ō rātou uaua, ahakoa kei te okioki rātou.
• Kohikohi uaua: I roto i tēnei, ka tangohia e te tākuta tētahi tauira kiko iti mai i tō uaua ka tirotirohia i raro i te karuārai hei tirotiro mēnā he tohu o te DM.

Ka mahia anō ētahi atu whakamātautau i muri i te whakaūnga o te mate?

Āe, ki te whakaūtia e ēnei whakamātautau te DM, ka tūtohu pea tō tākuta i ētahi atu whakamātautau hei tirotiro i te mahi a ētahi okana ka pāngia pea e te DM. Hei tauira:

• He whakamātautau electrocardiogram (ECG) hei tirotiro i te mahi a te ngākau.
• Whakamātautau mahi a te pūkahukahu hei tirotiro mō ngā raruraru manawa io-uaua.
• He rangahau moe hei tirotiro mō te apnea moe aukati me te hiamoe nui i te awatea.

He rongoā kei te wātea mō te Myotonic Dystrophy?

Engari, kāore anō kia kitea he rongoā mō te mate pukupuku myotonic (DM). Nō reira, ko ngā whāinga matua o te maimoatanga ko:

• Te whakahaere i ngā tohu.
• Te pupuri i te taumata teitei o te kounga o te oranga me te mana motuhake.

Nā te mea ka pāngia ngā wāhanga rerekē o te tinana e te DM, ka rerekē pea ngā maimoatanga i runga i ō tohumate. Kei roto pea i ēnei:

• Ngā rongoā hei whakaiti i te myotonia pumau. Hei tauira, ngā aukati hongere konutai pērā i te Mexiletine , ngā rongoā ārai pouri Tricyclic , ngā Benzodiazepines , ngā kaiwhakahē konupūmā rānei.
• He mīhini CPAP hei ārai i te hiamoe pōrearea.
• Ngā rongoā whakaohooho pērā i te methylphenidate hei rongoā mō te hiamoe nui i te awatea.
• Ko te pokanga katarata he pokanga hei tango i te katarata e aukati ana i te tirohanga.
• Te rongoā mō te mate huka. Tērā pea ka hiahiatia he pire me/ranei he insulin . He nui ake te mōrearea o te hunga whai DM ki te whakawhanake i te mate huka nā te ātete ki te insulin .
• Te rongoā testosterone mō te hypogonadism tāne . He maha ngā wā ka pāngia ngā tāne whai DM1 e te iti o te taumata testosterone me te ngoikore o te ure .

He mea nui ngā maimoatanga whakaora tinana me te whakaora mahi hei whakanui ake i te mana motuhake o te hunga whai DM. Ka taea e ēnei te āwhina i a koe ki te whakapakari i ō uaua me te ako i ngā huarahi hou hei mahi i ngā mahi o ia rā. Ka taea hoki e koe te pupuri i te mana motuhake mā te whakamahi i ngā taputapu āwhina (hei tauira, ngā tautoko, ngā tokotoko, ngā tūru wīra).

Ka taea e te pathology kōrero-reo (SLP) te āwhina i ngā uauatanga horomi (Dysphagia) me te kōrero pōturi (Dysarthria) .

Ka taea te ārai i te whanaketanga o te dystrophy myotonic?

I te mea he mate tuku iho te DM, kāore he mea e taea e koe te mahi hei ārai i tēnei.

I mua i tō whānautanga tamariki, ki te mea kei te āwangawanga koe mō te tūponotanga o te tuku i te DM, i ētahi atu mate ira rānei ki āu tamariki, kōrero ki tō tākuta mō te tohutohu ira .

He aha te matapae mō tēnei mate?

Ko te tirohanga mō te mate myotonic dystrophy (DM) e whakawhirinaki ana ki te momo mate me te tau ka tīmata ai ngā tohu. I te nuinga o te wā, ki te tīmata ngā tohu i te wā o mua, tera pea kāore i te pai te putanga, ā, ka whakaitihia pea te roanga o te oranga.

Tata ki te 50% o te hunga whai DM1 ka hiahia ki te tūru wīra hei nekeneke haere i mua i tō rātou matenga. Ko te hunga whai DM2 kāore e hiahia ki ngā taputapu āwhina hei nekeneke haere nā te mea he ngawari noa iho ō rātou tohu.

He aha te roanga o te oranga o te tangata e pāngia ana e te Myotonic Dystrophy?

Ka rerekē te roanga o te oranga mō te tangata whai DM i runga i te momo mate.

• I roto i ngā pēpi me te DM1 whānau, ko te reiti mate o te pēpi hou e tata ana ki te 18%. Tata ki te 25% o te hunga me te DM1 whānau ka mate i mua i te 18 marama te pakeke, ā, tata ki te 50% ka mate i mua i te 30 tau te pakeke.
• Ko te hunga whai mate DM1 ngawari he rite tonu te roa o te oranga.
• He poto ake te roa o te oranga o te hunga whai DM1 Matarohia i te taupori whānui.

Ka taea te whakamate i te mate Myotonic Dystrophy?

Ae, ka mate pea te tangata i te mate pūkahukahu (DM). Heoi, he rerekē te tau e mate ai te tangata i runga i te momo mate. Ko te tino take o te mate i roto i te DM ko te ngoikore o te manawa e pā ana ki te pūnaha io me te uaua . Ka taea hoki e ngā raruraru o te pūnaha ngākau te take o te mate.

Āhea koe me toro atu ki te tākuta mō te myotonic dystrophy?

Mena kei a koe ngā tohu o te DM, pērā i te ngoikore o te uaua me te myotonia, me toro atu koe ki te tākuta.

Mena he DM tōu, me hui tahi koe me tō tīma hauora i ia wā, kia mōhio ai kei te tika te haere o tō mahere maimoatanga o nāianei.

Ina whiwhi koe, tāu tamaiti rānei i tētahi tātaritanga hou, ka uaua pea te aro atu ki tēnei mate. Engari kia maumahara, ehara i te mea ko te katoa e pāngia ana e te mate myotonic dystrophy (DM) ka pāngia pērā tonu. Ko te mea pai rawa atu ka taea e koe ko te kōrero ki tētahi tohunga e rangahau ana, e rongoā ana hoki i te DM. Ka taea e rātou te kōrero ki a koe mō ngā kōwhiringa maimoatanga me te whakautu i ō pātai.

Kia maumahara tātou ki tā tātou i kōrero ai hei whakarāpopototanga (Karere hei tango ki te kāinga)

• Ko te mate pūkahukahu myotonic (DM) he mate ira e hua ai te ngoikore me te ngokingoki o te uaua.
• Ko te myotonia he āhuatanga e uaua ai ngā uaua ki te whakangā i muri i te whakamahinga.
• E rua ngā momo matua o te DM1: DM1 me DM2 . He momo anō kei te DM1.
• Ka rerekē pea ngā tohu i runga i te momo DM me ia tangata ki ia tangata.
• Nā ngā whakarerekētanga ira tēnei.
• Ka kitea te mate mā te whakamātautau ira me ētahi atu whakamātautau.
• Ahakoa kāore he rongoā katoa, kei reira ngā maimoatanga hei whakahaere i ngā tohu me te whakapai ake i te kounga o te oranga.
• Ki te mea he ruarua āu mō tēnei, rapua tonutia he tohutohu hauora. He mea tino nui te kitenga wawe.

Ko tāku tumanako ka whai hua ēnei kōrero ki a koe. Kia ora tonu!

` Te Mate Pūkahukahu Myotonic, Te Ngoikore o te Uaua, Ngā Mate Ira, Te Mate Pūkahukahu Myotonic, Ngā Mate Uaua, DM, Ngā Mate Pūnaha