He puhoi te tinana o tō tinana, o tāu tamaiti rānei? He mate pukupuku roro (Nemaline Myopathy) pea tēnei?

I ētahi wā, e ahua ngoikore ana tō tinana, e ahua tōmuri ana rānei tāu tamaiti i ngā mahi a ētahi atu tamariki, e ahua ngoikore ana rānei tōna kaha? He maha ngā take ka pā mai ai ēnei āhuatanga. Heoi, i tēnei rā ka kōrero tātou mō tētahi mate onge engari he mea nui, he mea nui kia mōhiotia. Koia tēnei he mate e kiia nei ko te Nemaline Myopathy .

He aha te Nemaline Myopathy?

I te whakarapopototanga, ko te Nemaline Myopathy he mate e pā ana ki ngā uaua e āwhina ana i ō tātou tinana ki te neke (e mōhiotia ana ko ngā uaua angaiwi ). Ka puta te ngoikore o te uaua (myopathy) i ngā wāhanga rerekē o te tinana. Ka kitea pea ēnei tohu i te whānautanga, i te tamarikitanga rānei, ā, he onge noa iho i te pakeketanga. Ko te nuinga o te wā ka pā tēnei ngoikore o te uaua ki:

• Ki tō kanohi
• Ki te kaki
• Ki te rohe hope
• Ki ngā pakihiwi
• Mō ngā ringa me ngā waewae o runga

Tērā tētahi atu mea motuhake mō tēnei mate nemaline myopathy. Arā, ina tirohia ngā uaua (ka mahia he koiora ), ka kite tātou i ngā mea iti, he rite ki te miro, he rākau, kei roto i ngā uaua (e kiia ana tēnei ko ngā tinana nemaline) . Ko te tikanga o te kupu Kariki "nema" ko "he rite ki te miro". Nō reira i tapaina ai tēnei mate. He ingoa anō hoki tōna, kua rongo pea koe mōna:

• Te mate whānau o te pēpi
• Te mate tinana nemaline
• Te uaua o te uaua

Ko te nuinga o te hunga e pāngia ana e te nemaline myopathy ka whānau mai me te whakarerekētanga ira i tukuna iho mai i ō rātou mātua . Heoi, he tino onge, ka puta te mate me te kore he hītori whānau, ā, ka puta pea i te whakarerekētanga ira matapōkere.

Ko te mea nui , kāore he rongoā mō te nemaline myopathy. Heoi, he maha ngā maimoatanga hei āwhina i te whakahaere i ngā tohu me te whakangawari ake i te oranga. Ko te hunga e pāngia ana e te momo nemaline myopathy tino noa ka taea te noho noa, te noho kaha hoki.

He rerekē ngā momo Nemaline Myopathy?

Āe, e ono ngā momo matua o te nemaline myopathy. Ka rerekē te wā e puta ai ngā tohu me te kaha o te mate i runga i te momo. 1. Te nemaline myopathy whānau noa : Koinei te momo tino noa . Tata ki te haurua o ngā tūroro nemaline myopathy katoa kei roto i tēnei momo. He mate tēnei e kitea ana i te whānautanga. 2. Te nemaline myopathy whānau waenga :I tēnei momo, he iti ake te kaha o ngā tohu i tērā o te momo kino, engari he kaha ake i tērā o te momo noa. Tata ki te 20% o ngā tūroro he mate pēnei. 3. Nemaline myopathy whānautanga kino (pēpi hou): He mate kino tēnei e kitea ana i te whānautanga . Tata ki te 16% o ngā tūroro he mate pēnei. 4. Nemaline myopathy tīmatanga tamarikitanga : Ka puta tēnei momo i waenga i te 10 me te 20 tau te pakeke. Neke atu i te 10% o ngā tūroro he mate pēnei. 5. Nemaline myopathy tīmatanga pakeke: Ka puta tēnei mate i waenga i te 20 me te 50 tau te pakeke. Tata ki te 4% o ngā tūroro he mate pēnei. 6. Amish nemaline myopathy : He momo motuhake tēnei e kitea ana i roto i te hapori Amish. He tino onge, ā, he maha ngā wā ka mate pea i te tamarikitanga.

Ko wai ka pāngia e tēnei mate?

Ka pāngia te tangata e te nemaline myopathy, ahakoa te ira tangata, te iwi, te whakapono rānei. Heoi, ki te mea kei tētahi, kei ngā mātua e rua rānei te whakarerekētanga ira mō te mate, he nui ake tō tūponotanga . He nui ake hoki te tūponotanga o te hunga i roto i te hapori Amish. He mate tino onge tēnei. E ai ki ngā kairangahau, tata ki te kotahi i roto i te 50,000 whānautanga ora ka pāngia e te mate. Heoi, i roto i te hapori Amish, e kiia ana kotahi i roto i te 500 tāngata ka pāngia e tēnei āhuatanga.

He aha ngā take o te Nemaline Myopathy?

Ko te nemaline myopathy he mate e pā ana ki te pūnaha angaiwi me te uaua . He maha ngā wā ka puta mai i ngā huringa o ngā ira, e kiia nei ko ngā whakarerekētanga ira . Ka taea te tuku iho i ēnei whakarerekētanga ira mai i tētahi, i ngā mātua e rua rānei.

• I ētahi wā, ka puta tēnei āhuatanga mēnā kei ngā mātua e rua te ira rerekē (arā, ka tukuna iho hei āhuatanga autosomal recessive) .
• He onge noa iho, ka taea te whanake ahakoa kotahi anake te mātua e whiwhi ana i te ira rerekē (arā, he āhuatanga autosomal dominant ).
• I ētahi wā, ka puta anō hoki tēnei āhuatanga mai i tētahi whakarerekētanga ira hou, matapōkere i roto i te parāoa, i te hua manu rānei.

He maha ngā wā ka puta tēnei i ngā whakarerekētanga ira o te ira Nebulin (NEB) me te ira Actin alpha-1 (ACTA1) . Ko te nebulin me te actin he momo pūmua e rua e āwhina ana i te whakawhāiti i ō tātou uaua. Whakaarohia rāua he wāhanga o te mīhini. Ina he raruraru ki ēnei wāhanga, ka mutu te mahi tika a ngā uaua.

He aha ngā tohu o tēnei mate?

Ko ngā tohu matua o te nemaline myopathy ko:

• Te ngoikore o te uaua (Hypotonia) : He ngoikore te tinana, pērā i te pōro rapa.
• Te hekenga, te ngaro rānei o ngā urupare ā-tinana: Te hekenga o te kaha ki te neke i te waewae ina patohia te turi e te tākuta ki te hama iti.
• Ngoikore o te uaua : He ngoikore te tinana .

Mena ka puta ēnei tohu i tō pēpi whānau hou , tera pea ka kite koe i ētahi atu tohu pēnei i:

• He ara hīkoi piu rerekē (he mate ara hīkoi) .
• Te whakaroa i ngā pūkenga nekeneke: Te whakaroa i ngā mea pēnei i te noho, te tū, me te whakahaere i te mahunga.
• Te uaua ki te kōrero me te horomi (dysarthria me te dysphagia) .
• Kei muri rawa te tūnga o te kauae i te āhua noa (retrognathia) .
• Te tango i te āhua o te mata roa .
• Te piko rerekē o te waha o runga .
• Te kōrero pōturi (te ngoikore o te ara o te waha me te waha o te waha) .
• Te ngoikore o te manawa i te wā moe (te kore e kaha te manawa i te pō) , ka piki ake ai te taumata o te hauhā waro i roto i te toto (hypercarbia) .
• Te uaua ki te manawa (dyspnea) .

Tērā pea ka pāngia te hunga whai mate nei e ētahi atu tohu i a rātou e pakeke haere ana :

• Te pakari rerekē o te tuaiwi .
• Te mate korokoro .
• Ngā kirimana hononga .
• He pouaka totohu (pectus excavatum) .

Me pēhea te tautuhi i tēnei mate?

Tuatahi, ka pātai atu te tākuta ki a koe, ki tāu tamaiti rānei, mō ō tohumate, me te mea kua pāngia tetahi o tō whānau e ngā āhuatanga rite. Kātahi ka tirotirohia e rātou te tinana. Mena kei te whakapae te tākuta he nemaline myopathy, ka whakahau ia i tētahi koiora uaua . Ko te tikanga o tēnei ko te tango i tētahi wahi iti o te kiko uaua i te wā pokanga, ā, ka tirotirohia. Mena kei a koe, kei tāu tamaiti rānei tēnei āhuatanga, ka kite koe i ngā hanganga rite ki te miro (ngā tinana nemaline) i roto i taua wahi uaua. Ka tirotirohia hoki e te tākuta ngā ira .Ka taea hoki te tūtohu. Ka taea e tēnei te whakaū i te āhua o te nemaline myopathy.

Me pēhea te rongoā?

E ai ki te kōrero i mua ake nei, kāore he rongoā motuhake mō tēnei. Nō reira, ko te whāinga o te maimoatanga he whakaiti i ngā tohu me te āwhina i te whakahaere i te oranga kia māmā ake . Ka uru pea ki te maimoatanga:

• Āwhina mō ngā uauatanga manawa: Kei roto pea i tēnei ko te whakatakoto i te tracheostomy , te hono atu ki te mīhini whakapūngao ā-ringa , te whakamahi rānei i te mīhini BiPAP .
• Whakakorikori tinana iti te pānga: Kia mau tonu te kaha o ngā uaua.
• Mirimiri me te whakaora tinana : Kia mau tonu te mahi a ngā uaua.
• Whakaora kōrero : Whakaitihia ngā uauatanga kōrero me te haukū.
• Ngā tikanga totoro : Whakanuia te nekehanga o ngā uaua.
• Ngā taputapu āwhina hikoi: Ngā mea pēnei i te tokotoko, ngā tokotoko toko, ngā tautoko turi, me te tūru wīra.

Mena he kino ngā tohu, he raruraru hauora rānei kei a koe, me kawe pea koe ki te hōhipera . Tērā pea ka whakaratohia ēnei maimoatanga e te wā e noho ana koe ki te hōhipera:

• Tautoko manawa: Pēnei i te whakapūngao manawa ā-ringa hei āwhina i a koe ki te manawa i a koe e moe ana.
• Pokanga : Whakaorahia te pakaru o ngā hononga, te scoliosis rānei.
• Kai mā te puku : Mena he uaua ki te horomi kai.

Ka taea te whakaiti i tēnei mōrearea?

He pono, kāore he huarahi hei ārai i a koe, i tāu tamaiti rānei, kei pāngia e te nemaline myopathy. Heoi, he mea nui kia mōhio koe ki ngā tohu, rapu tohutohu hauora i te wā tika, ā, tīmata maimoatanga mēnā e tika ana .

He aha te momo āpōpō ka taea e te tangata whai i tēnei mate te tumanako atu?

He tino rerekē tēnei i runga i te momo mate .

• Te mate pukupuku nemaline whānau noa : Ka noho tonu te ngoikore o te uaua i te roanga o te wā. Heoi, i a koe e pakeke haere ana, ka paku piki ake pea te ngoikore i a koe e tipu haere ana.
• Te myopathy nemaline whānautanga kino (pēpi hou): Ka pā mai pea ngā raruraru . Hei tauira:
• He maha ngā hononga e mau ana i te tūnga piko, i te tūnga torotika rānei (Arthrogryposis multiplex congenita) .
• Te manawa i te kai, i te wai rāneiTe niumōnia manawa .
• Ngā whatiwhatinga.
• Te mate uaua o te ngākau (Cardiomyopathy) .
• Te ngoikore o te manawa .
• Te myopathy nemaline whānautanga waenga : He tokomaha te hunga e hiahia ana ki te āwhina manawa me te tūru wīra.
• Te nemaline myopathy i te tamarikitanga : Ka taea e tēnei te heke o te waewae, he āhuatanga e kore ai e taea te hiki ake i te hononga pona ki runga ake i te hononga pona. Ka taea hoki e ia te arahi ki te ngaronga o te nekehanga o te uaua pona me te waewae o raro.
• Te myopathy nemaline e pā mai ana ki te pakeke : Ka pā mai hoki ngā raruraru :
• Te uaua ki te manawa.
• He uaua ki te pupuri i te upoko kia tū tika nā te ngoikore o ngā uaua o te kaki.
• Ngā raruraru o te mate ngakau.
• Te piki haere o te ngoikore o te uaua.
• Te myopathy nemaline Amish : Ko ngā raruraru o tēnei āhuatanga ko te ngoikore haere o te uaua, te ngoikore o te manawa, me te memeha haere o te uaua .

Nō reira, mō te heke mai, kei te momo mate me te kaha o ngā tohu . Tērā pea ka taea e te tangata whai mate ngāwari rawa (te myopathy nemaline whānau) te hikoi me te kore tautoko. Heoi, ko te hunga whai mate tino kino (te myopathy nemaline Amish) e ora ana mō te rua tau pea.

Kaua e manukanuka. Ahakoa kāore he rongoā, mā te maimoatanga tika, he maha ngā tāngata e pāngia ana e te nemaline myopathy ka roa te ora . I runga i te momo mate, ka roa te oranga mai i ētahi marama ki te roanga o te oranga.

Me pēhea koe e tiaki ai i a koe anō, i tāu tamaiti rānei mēnā kei te pāngia rātou e tēnei mate?

Ka taea e koe te āwhina ki te whakaiti i ngā raruraru o tēnei mate mā te mahi i ēnei e whai ake nei:

• Tirohia te mahi a tō ngākau i ia wā.
• Rapua tonutia he tohutohu hauora me te maimoatanga mēnā ka pāngia koe e te mate manawa o raro (hei tauira, te mate pūkahukahu , te pupuhi o te uma, te niumōnia ).

Mena he kawe koe i te ira o tēnei mate, ā, e tumanako ana hoki koe kia whānau he tamaiti, he mea pai kia tutaki koe ki tētahi kaitohutohu ira mō ētahi tohutohu .

Kia maumahara hei whakarāpopototanga

He mate onge te Nemaline Myopathy (NM) e pā ana ki ngā uaua angaanga. Ko ngā tohu matua ko te ngoikore o te uaua me te ngoikore o te uaua. He maha ngā momo o tēnei mate, he rerekē te tīmatanga me te kaha o ngā tohu o ia momo. Ahakoa kāore he rongoā motuhake, he maimoatanga kei reira hei whakaiti i ngā tohu.. Ko te nuinga o te hunga e pāngia ana e te momo tino noa (te myopathy nemaline whānau) ka taea te noho motuhake me te maimoatanga tika. Ka rerekē te matapae mō ētahi atu momo i runga i te kaha o ngā tohu. Nō reira, he mea tino nui te whai i ngā tohutohu hauora me te whiwhi tiaki tika . Nemaline Myopathy, Ngāwari Uaua, Ngā Mate Ira, Ngā Mate Tamariki, Ngā Mate Neuromuscular, Ngā Raru Manawa, Te Biopsy Uaua