He ngoikore hoki ō uaua i ō pakihiwi me ō hope? Me kōrero tātou mō te Limb-Girdle Muscular Dystrophy (LGMD)!

Kei te ahua ngoikore ō pakihiwi, ō ringaringa, ō hope rānei i ētahi wā? He uaua ki a koe te whakatika ake i te tūru, te piki arawhata rānei? Kei te ahua ngoikore ō ringaringa i ētahi wā ina hiki koe i tētahi mea taumaha? Ehara pea ēnei i te ngenge tinana anake. I tēnei rā ka kōrero tātou mō tētahi mate onge engari he tino nui. Ko te ingoa o tēnei ko te Limb-Girdle Muscular Dystrophy , ko te LGMD rānei te whakarapopototanga.

He aha te mate pāwera uaua o te waewae me te hope (LGMD)?

He kupu whānui te Limb-Girdle Muscular Dystrophy mō tētahi rōpū mate tuku iho e ngoikore haere ana ētahi uaua o roto i ō tātou tinana. He mate mau tonu tēnei, arā, ka roa pea mō te oranga katoa. Ka pāngia te tangata o ngā tau katoa.

Ko ngā "whitiki peka" ko ngā wheua e karapoti ana i ō tātou pakihiwi me ō tātou hope. Pērā i ngā hononga e hono ana i ō tātou ringa me ō tātou waewae ki tō tātou tinana. Nō reira, i roto i tēnei āhuatanga "(LGMD)", ko ngā uaua e pā ana ki ēnei wāhi pakihiwi me te hope te nuinga e pāngia ana.

Kua rongo pea koe i te kupu "muscular dystrophy". E pā ana tēnei ki tētahi rōpū āhuatanga ira e pā ana ki te mahi a ngā uaua. I roto i te nuinga o ngā momo "muscular dystrophy", ka kino haere ngā tohu i te roanga o te wā.

He pēhea te noa o te ingoa o tēnei āhuatanga ko te LGMD?

Ina hoki, he mate tino onge te `(Limb-Girdle Muscular Dystrophy)`. Whakaarohia, i tētahi whenua pēnei i a Amerika, ina tāpirihia ēnei momo `(LGMD)` katoa, e rua noa iho ngā tāngata e pāngia ana i roto i te rau mano. Ki te whakaritea ki te `(Duchenne muscular dystrophy)` e mōhiotia ana, e kōrerohia ana hoki e tātou (he momo `muscular dystrophy` anō hoki tēnei), kotahi i roto i te 3600 ngā tama tāne e pāngia ana i Amerika. Nō reira, he iti ake te kitea o te `(LGMD)` i tērā.

I roto i ēnei momo `(LGMD)`, ko te momo tino kitea i te Hononga o Amerika ko `(LGMD R1 calpain3-related)`. Ka kiia hoki tēnei ko `(calpainopathy)`. I waenga i te 12% me te 30% o ngā tūroro `(LGMD)` katoa nō tēnei momo.

He aha ngā tohu e kitea ana e tātou?

Ko ngā tohu matua o te Limb-Girdle Muscular Dystrophy ko te ngoikore o te uaua me te ngenge o te uaua , te memeha rānei. Ka pā tēnei ki:

• Ki ngā pakihiwi
• Mō ngā ringa o runga (te wāhanga o tō tātou ringa mai i te pakihiwi ki te tuke)
• Ki te rohe hope
• Mō ngā huha (te wāhanga o ō tātou waewae mai i te hope ki te turi)

Ko te tau e tīmata ai ngā tohu, me te tere o te ahu whakamua o ēnei tohu, ka rerekē i tētahi momo LGMD ki tētahi atu.

Ko ngā tohu tuatahi o tēnei mate ko te uaua ki te hikoi . Hei tauira:

• Tērā pea ka puta he hikoi hīkoi haere, he rite ki te hikoi hīkoi haere a te parera .
• Mai i tētahi wāhi hei nohoanga, pērā i te tūru, i te nohoanga wharepaku rāneiHe uaua te ara ake .
• Te uaua ki te piki i ngā arawhata .

Waihoki, ina ngoikore ngā uaua o ngā pakihiwi me ngā ringa o runga, ka pā mai pea ēnei āhuatanga:

• He uaua ki te toro atu ki runga ake i te mahunga . Whakaarohia he rite ki te tango i tetahi mea mai i te whata.
• He uaua ki te totoro atu i ō ringaringa ki mua i a koe .
• Te kore e taea te hapai i ngā mea taumaha .
• He uaua ki ētahi tāngata te whakamahi i ō rātou ringaringa ki te kai .

Tērā pea he āhuatanga anō kei ētahi momo LGMD hei tāpiri atu ki ēnei. Ko ētahi o ēnei ko:

• Ngā raruraru o te ngākau : Hei tauira, ngā āhuatanga pēnei i te ngoikore o te uaua o te ngākau (cardiomyopathy), ngā rerekētanga o te rere o te manawa, ngā arrhythmias rānei.
• Te uaua ki te manawa .
• Te uaua ki te horomi kai (dysphagia) .
• Ngā hononga kua whakawhāitihia , arā, he uaua ki te piko me te wetewete i ngā hononga.
• Ngā mamae o te uaua .
• Te nui haere o ngā uaua : I ētahi wā, ahakoa te ngoikore o ngā uaua, ka kitea pea he nui ake i waho.
• Te ngoikore o ngā uaua o te pito tawhiti, pērā i ngā ringa me ngā waewae .

Ka taea e tēnei te whakararu i ngā raruraru nui?

Ae, i ētahi wā ka pā mai ētahi raruraru ki te LGMD. Engari kāore i te rite mō te katoa. He maha ngā āhuatanga ka pā ki tēnei:

• He aha te momo `(LGMD)` kei a koe?
• I tehea tau i tīmata ai ngā tohu me te tere o te whanaketanga o te mate?
• He pai rawa te tiaki hauora me ngā wāhi whakahaere tohumate kei a koutou.

Ko ētahi o ngā raruraru pea ko:

• Mena ka tīmata te LGMD i te tamarikitanga, ka taea e ia te whakaroa i ngā pūkenga nekeneke whānui pērā i te hikoi .
• Ka pā mai pea ētahi momo hauātanga hinengaro me ngā uauatanga ako .
• Ka kitea te kyphosis me/ranei te scoliosis , inā koa i roto i te LGMD e tīmata ana i te tamarikitanga.
• Ka ngoikore pea te mahi a ngā pukahukahu, ka arahi atu ki te mate pukahukahu herekore , te ngoikore pea o te manawa , te ngoikore rānei o te manawa .
• Ka pā mai pea te kore kai pai nā te uaua ki te kai me te horomi.

He aha tēnei e tupu nei? He aha te take?

Ko te tino take o te Limb-Girdle Muscular Dystrophy ko ngā whakarerekētanga ira.Ko ēnei ira te kawenga mō te pupuri i te hanganga me te mahi hauora o ngā uaua. Nō reira, ina puta he panoni i roto i ēnei ira, kāore e taea e ngā pūtau e tika ana kia pupuri i ngā uaua te mahi tika i taua mahi. Nō reira, ka ngoikore haere ngā uaua i te roanga o te wā. He panoni ira motuhake e pā ana ki ia momo `(LGMD)`.

I riro mai ēnei huringa ira i ō tātou mātua. E rua ngā wāhanga matua o te LGMD, i runga i te āhua o te tukunga iho o ngā ira:

• LGMD Rōpū D : Ka puta ēnei i roto i tētahi tauira e kiia nei ko te "whakahekenga ā-ira-autosomal." Ko te tikanga ka taea e te whakarerekētanga ira e puta ai te mate te whanake ahakoa kotahi anake te mātua e tuku iho ana.
• Rōpū LGMD R : Ka puta ēnei i roto i tētahi tauira e kiia nei ko te "whakahekenga autosomal recessive." Ko te tikanga me tuku iho te whakarerekētanga ira e puta ai te mate mai i ngā mātua e rua.

He rerekē ngā momo LGMD?

Ae, he maha ngā momo o te `(Limb-Girdle Muscular Dystrophy)`. Ka whakamahia e ngā kairangahau me ngā tākuta tētahi hanganga ingoa motuhake hei whakarōpū i ēnei momo. Kei roto ko ngā reta "LGMD" me ētahi atu mea:

• Te tukunga iho o ngā ira : Ko te reta "D" e tohu ana i te `(autosomal dominant inheritance)`. Ko te reta "R" e tohu ana i te `(autosomal recessive inheritance)`.
• Te raupapa o te kitenga : Ka hoatu e ngā kairangahau he tau ki ēnei momo momo i te raupapa i kitea ai rātou.
• Pūmua, ira rānei e pāngia ana : Ka tohuhia tēnei hei "[ingoa ira, ingoa pūmua rānei]-e pā ana". Hei tauira, `(e pā ana ki te calpain3)`.

He maha ngā momo o tēnei. He uaua te whakaahua i ia momo, nō reira kāore mātou e whakamārama taipitopito atu. Engari ka taea e tō tākuta te kōrero atu ki a koe mō tēnei.

Me pēhea te kite a ngā tākuta i tēnei?

Mena kei te whakapaehia koe, tāu tamaiti rānei, kei te pāngia e ngā tohu o te Limb-Girdle Muscular Dystrophy, tera pea ka tirotirohia e te tākuta te tinana , te pūnaha io , me te uaua . Ka pātai atu rātou ki a koe mō ō tohu, me te mea kua pāngia tētahi o tō whānau e ēnei mate.

Mena kei te whakapae koe kei a koe te LGMD, ka tūtohuhia pea tētahi, ētahi atu rānei o ngā whakamātautau e whai ake nei:

• Whakamātautau toto Creatine kinase : Ina pakaru ngā uaua, ka tukuna he whākōkī e kiia nei ko te "creatine kinase" ki roto i te toto. Nō reira, ki te teitei ake tōna taumata, he tohu pea tēnei mō tētahi āhuatanga e kiia nei ko te "muscular dystrophy."
• Ngā whakamātautau ira : Ka taea e ēnei whakamātautau te tautuhi i ngā huringa ira e pā ana ki ētahi momo LGMD. Koinei anake te huarahi hei whakaū ko tēhea momo LGMD kei a koe .
• Te koiora uauaKo tēnei ko te tango i tētahi tauira iti o tō kiko uaua, kātahi ka tirotirohia e tētahi tohunga i raro i tētahi karuārai. Ka āwhina tēnei ki te whakatau mēnā kei a koe ngā tohu o te mate pukupuku uaua.
• Electromyography (EMG) : Ka ine tēnei whakamātautau i te ngohe hiko o ngā uaua me ngā io.

Mena kua tāpaetia koe, tāu tamaiti rānei ki te mate LGMD, ka whakahaua e tō tākuta he whakamātautau mahi o te ngākau me te pūkahukahu hei tirotiro i te pai o te mahi a tō ngākau me ō pūkahukahu. He mea nui kia mōhio koe mēnā kua pāngia aua whekau e te mate.

He aha ngā maimoatanga?

Heoi, kāore anō kia kitea he rongoā mō te Limb-Girdle Muscular Dystrophy i tēnei wā , engari kei te haere tonu ngā rangahau ki te whakatau i tēnei mate.

Ko te whāinga matua o ngā maimoatanga o nāianei he āwhina i te whakahaere i ngā tohu me te whakapai ake i te kounga o te oranga . Tērā pea ka rerekē ngā kōwhiringa maimoatanga i runga i te momo LGMD kei a koe. Ko ētahi o ēnei ko:

• Ngā whakaora tinana me ngā whakaora mahi : Ko te nuinga o ēnei ka āwhina i te whakapakari i ngā uaua me te mahi i ngā mahi totoro. Ka āwhina i a koe ki te kimi huarahi hei mahi i ngā mahi o ia rā me te pupuri i te nekenekehanga.
• Ngā Corticosteroids : Ka āwhina pea ngā corticosteroids pēnei i te prednisolone me te deflazacort ki te whakaiti i te ngoikore o te uaua, te whakapai ake i te mahi a ngā pukahukahu, te whakaiti i te mamae o te tuara, me te whakaiti i te haere whakamua o te cardiomyopathy. Heoi, kāore e mahi mō ngā momo LGMD katoa. He tino āwhina mō ētahi momo, pēnei i te LGMD R9 FKRP-e pā ana.
• Ngā āwhina nekenekehanga : Mā ngā taputapu pēnei i te tokotoko, te tautoko, te hikoi, me ngā tūru wīra ka māmā ake te hikoi me te haereere, ka āwhina ki te ārai i te hinganga, ka āwhina hoki ki te whakaiti i te ngenge.
• Pokanga : Ko ētahi tūroro LGMD me pokanga hei whakamama i te pēhanga o ngā uaua kikī me te whakatika i te scoliosis.
• Te tiaki manawa : Ka taea e ngā taputapu āwhina mare me ngā taputapu manawa te āwhina i te whakangāwari i te manawa. Mēnā ka pā mai te ngoikore nui o te manawa, me mahi pea he tracheostomy (te hanga kōhao ki te kaki hei āwhina i te manawa) me te āwhina i te manawa.
• Te tiaki i te ngākau : Ki te tīmata wawe, ka taea e ngā rongoā pēnei i ngā aukati ACE me/ranei ngā aukati beta te whakaroa i te haere whakamua o te cardiomyopathy me te ārai i te whanaketanga o te ngoikore o te ngākau. Ka taea e ngā taputapu whakatere te āwhina ki te rongoā i ngā raruraru manawataki o te ngākau me te ngoikore o te ngākau.
• Whakaora kōrero: He pai tēnei whakaora mō te hunga e uaua ana ki te horomi.
• Ngā whakamātautau haumanu : I runga i te momo LGMD kei a koe me te wāhi e noho ana koe, tera pea ka whai wāhi koe ki ngā whakamātautau haumanu hou. Kei te piki haere te maha o ngā whakamātautau haumanu kei te haere tonu mō te LGMD.

He maha ngā wā e hiahiatia ana he rōpū tohunga hei whakahaere i te LGMD, māu me tāu tamaiti. Kei roto i ēnei ko ngā tākuta roro, ngā tākuta tinana, ngā tākuta ira, ngā tākuta wheua, ngā tākuta tinana, ngā tākuta mahi, ngā tākuta ngakau, ngā tākuta pūkahukahu, ngā tākuta hinengaro, me ngā kaimahi hapori.

He aha te tirohanga mō te tangata whai LGMD?

He uaua ki ngā kairangahau me ngā tākuta te kī tika i te āhua o te mate mō te tangata whai LGMD. Engari mā tō rōpū hauora koe e hoatu ki a rātou ngā mōhiotanga katoa e pā ana ki ngā mea ka tumanakohia.

I te nuinga o te wā, ki te tīmata te LGMD i te tamarikitanga, ka tere ake te whanaketanga o te mate, ā, ka nui ake te tūponotanga o ngā raruraru . Heoi, ki te tīmata te LGMD i te wā taitamariki, i te wā pakeke rānei, he iti ake te kino, ā, ka puhoi ake te whanaketanga o te mate .

Kia pēhea te roa ka taea e koe te ora me tēnei?

Ko te roanga o te oranga o te tangata whai LGMD e whakawhirinaki ana ki te momo LGMD kei a rātou me te tere o tōna whanaketanga . I te nuinga o te wā, ko te hunga whai LGMD e pāngia ana e ngā raruraru, pērā i te mate ngakau me ngā uauatanga manawa, tera pea he poto ake te roanga o te oranga i te hunga kāore i te pēnei ngā raruraru.

He ara hei ārai i tēnei?

Nā te mea he mate ira te Limb-Girdle Muscular Dystrophy, kāore he mea e taea te mahi hei ārai i tēnei mate i tēnei wā .

Mena kei te whakaaro koe ki te whānau tamariki, ā, kei te āwangawanga koe kei tukuna e koe te LGMD, ētahi atu mate ira rānei, he mea pai kia kōrero koe ki tō tākuta mō te tohutohu ira .

Mena kei a koe te LGMD, he maha ngā mea ka taea e koe te mahi hei ārai, hei whakaroa rānei i ngā raruraru me te whakapai ake i tō kounga o te oranga:

• Kai i tētahi kai pai, kai totika hoki hei ārai i te kore kai pai.
• Inumia he nui te wai hei ārai i te matewai me te kōroke.
• Mahia he korikori tinana māmā ki te taurite e ai ki ngā taunakitanga a tō tīma hauora.
• Kia mau ki te taumaha hauora .
• Kaua e kai hikareti hei tiaki i ō pukahukahu me tō ngākau.
• Tikina ngā kano ārai mate i te wā tika .

Me pēhea taku tiaki i tētahi tangata whai LGMD? Me aha rānei ahau mēnā kei a au tēnei mate?

Mena kei a koe te Limb-Girdle Muscular Dystrophy, kei te tiaki rānei koe i tētahi e pangia ana e tēnei mate, he mea nui kia tautoko koe i te tiaki hauora me te maimoatanga pai rawa atu, kia rapua hoki . Mā te mahi pera ka āwhina i a koe ki te pupuri i te kounga pai rawa atu o te oranga.

Ka taea hoki e koe me tō whānau te whakauru atu ki ngā rōpū tautoko . Mā tēnei ka whai wāhi koe ki te tūtaki ki ētahi atu tāngata kua pāngia e ngā āhuatanga rite ki a koe, ki te kōrero ki a rātou, me te whakawhitiwhiti whakaaro. He puna nui tēnei mō te kaha.

Āhea ahau me toro atu ki te tākuta?

Mena kei a koe te Limb-Girdle Muscular Dystrophy, me toro atu koe ki tō tīma hauora i ia wā, i ia wā , kia whiwhi ai koe i te maimoatanga me te aroturuki i ō tohumate.

He uaua pea te mārama ki te mate o te Limb-Girdle Muscular Dystrophy (LGMD) e pā ana ki a koe. Engari ka taea e tō rōpū hauora te āwhina i a koe ki te whakawhanake i tētahi mahere whakahaere e hāngai ana ki ō tohumate. Ko te mea nui ko te whakarite kia whiwhi koe i te tautoko e hiahiatia ana e koe, me te aro tonu ki tō hauora . Kia maumahara, kei reira tonu tō rōpū hauora hei āwhina i a koe me tō whānau.

Hei whakamutunga, ngā mea hei maumahara

Ko te Limb-Girdle Muscular Dystrophy (LGMD) he mate ira e ngoikore haere ana ngā uaua o te pakihiwi me te hope. Ahakoa he mate onge, he mea nui kia mōhio ki ngā tohu.

• Ngā tohu matua : Te ngoikore o ngā uaua o ngā pakihiwi, o ngā ringa o runga, o ngā hope me ngā huha, te uaua ki te hikoi, me te kore e taea te hapai i ngā taumaha.
• Take : Ngā rerekētanga ira.
• Maimoatanga : Kāore he rongoā i tēnei wā. Ko te whāinga he whakahaere i ngā tohu me te whakapai ake i te kounga o te oranga. He mea nui te whakaora tinana, te whakaora mahi, ā, ki te tika, te rongoā me ngā taputapu.
• Ko te mea nui rawa : te tautuhi wawe i te mate, te tohutohu hauora me te maimoatanga tika. He mea nui anō hoki te tautoko whānau me ngā rōpū tautoko.

Mena he pātai anō āu mō tēnei, kaua e wehi ki te kōrero ki tō tākuta. Mā rātou koe e āwhina.

` te ngoikore o te uaua o te waewae, LGMD, ngoikore o te uaua, ngā mate ira, mamae pakihiwi, mamae hope, maimoatanga, te ngoikore o te uaua sinhala, te ngoikore o te uaua