Ahakoa te mamae o ō uaua i muri i te whakakori tinana? Tērā pea ko te mate McArdle tēnei!

I ētahi wā ka mamae, ka ngoikore hoki koe ina whakakorikori tinana koe, ina mahi rānei i tētahi mea e hiahia ana kia kaha, tika? He mea noa tēnā. Engari mō ētahi tāngata, he nui rawa tēnei āhuatanga. Ahakoa te mahi i tētahi mea iti ka tere te ngenge, ka mamae, ka piri hoki ō uaua. I tēnei rā ka kōrero tātou mō tētahi āhuatanga onge engari he mea nui kia mōhio koe. Ko te ingoa o tēnei ko te mate a McArdle, ko te 'mate rokiroki glycogen momo 5 (GSD5)' ​​rānei.

He aha te mate McArdle?

He whakarāpopototanga noa iho, he mate ira te mate a McArdle e ahu mai ana i roto i ō tātou whānau . Ko te nuinga o te wā ka pā ki ō uaua angaanga . Arā, ko ngā uaua e whakamahia ana e tātou hei neke haere, hei hiki i ngā mea, hei hikoi hoki.

Ko te mate nei e puta mai ana i te korenga, te ngaro rānei o tētahi whākōkī motuhake i roto i ō tātou uaua e kiia nei ko te 'muscle glycogen phosphorylase', ko te 'myophosphorylase' rānei. Ina ngaro katoa tēnei whākōkī, kāore e taea e ō tātou uaua te whakaputa i te pūngao e tika ana. Koia te take e puta ai ngā tohu pēnei i te mamae o te uaua, te pakari, me te ngenge i te wā e whakakorikori tinana ana, i te wā rānei e ngenge ana tātou.

Ko te tikanga ka tīmata ngā tohumate i muri i te 15-20 tau te pakeke, i roto rānei i ngā tau 20, 30 rānei . Heoi, ka puta pea i ētahi wā i ngā tau katoa. Ko te ingoa o te mate ko "McArdle" i muri i a Tākuta Brian McArdle, nāna i pūrongo tuatahi i te tau 1951.

He pēhea te noa o tēnei mate?

He tino onge te mate McArdle. E ai ki ngā kairangahau, kotahi i roto i te 50,000 me te kotahi i roto i te 200,000 tāngata e pāngia ana i te United States.

He aha ngā tohu?

Ka rerekē ngā tohu o tēnei mate i ia tangata, i ia tangata. Tērā pea ka pāngia ētahi e ngā tohu tino māmā, engari ko ētahi ka pāngia kinotia.

Ko te tohu matua, ko te tohu tino kitea ko te kore e manawanui ki te whakakorikori tinana, arā, ko te tere o te ngenge i te wā e mahi ana i ngā mahi ā-tinana . Ko ētahi atu tohu ko:

• Ngā mamae o te uaua
• ngoikore
• Ngenge
• Mamae uaua
• Te pakari o te uaua

Ka puta mai ēnei tohu katoa i te tīmatanga o te whakakori tinana. Engari ka memeha haere i muri i te okiokinga poto . He mea whakamiharo, ka kitea e ētahi tāngata i muri i te ngenge i te tīmatanga, ki te okioki poto rātou, kātahi ka mahi anō i taua whakakori tinana, ka taea e rātou te mahi pai ake i mua. Ka kiia tēnei he "hau tuarua." He rite ki te hau tuarua. Ki te kore koe e whakakori tinana, kāore koe e rongo i tētahi tohu.

Tērā pea ka taea e koe te mahi i ngā mahi whakakori tinana māmā, mārie, pērā i te hikoi i runga i te whenua papatahi, me te kore he raruraru. Heoi, mā te whakakori tinana kaha ka tere te puta o ngā tohu. Ina koa, ko ngā mahi whakakori tinana e pupuri ana i ngā uaua ki te wāhi kotahi me te kore e neke, pērā i ngā mahi whakakori tinana isometric , te tūpeke, me te tū ki runga i ō matimati, ka kino pea ngā uaua. Whakaarohia te mamae e pā ana ki a koe i te hiki i tētahi ipu hau, i te kawe rānei i tētahi putea taumaha.

Ka taea e tēnei te whakararuraru nui? (Ngā raruraru)

Ae, i ētahi wā ka puta he raruraru nui. Tata ki te haurua o te hunga whai mate McArdle ka pāngia e te mate e kiia nei ko te 'rhabdomyolysis' i muri i te whakakori tinana kaha . Koinei te wā e pakaru ai ngā uaua.

He mate kino te rhabdomyolysis, he mate morearea hoki , ka arahi pea ki te ngoikore ohorere o te whatukuhu (te ngoikore o te whatukuhu acute) me te taumata tiketike rawa o te pāhare pāporo i roto i te toto (hyperkalemia).

Nō reira, me tino tupato koe ki te nui me te kaha o tō whakakori tinana. Mā tēnei ka āwhina i te ārai i te mate 'rhabdomyolysis'. Mena ka pāngia koe e ētahi tohu pēnei i te pupuhi uaua, te mimi pouri (parauri, whero, tae tī) , me rapu tohutohu hauora tonu koe .

He aha tēnei e tupu nei? He aha ngā take mō tēnei?

He mate ira te mate McArdle. Ina koa, ka puta mai i ngā whakarerekētanga ira i roto i te ira 'PYGM'. I te nuinga o te wā, ka tohutohu tēnei ira 'PYGM' i tō tātou tinana kia hanga he whākōkī e kiia nei ko te 'myophosphorylase'.

Kei roto anake i ngā pūtau uaua angaiwi tēnei whākōkī. Ka wawahia e ia te glycogen (te huka kua rongoatia) i roto i ngā uaua ki te glucose-1-phosphate. Kātahi ka hurihia anō tēnei glucose-1-phosphate hei glucose. Ko te glucose te puna matua o te pūngao o tō tātou tinana . Ina whakakori tinana tātou, ka whakamahia e ō tātou uaua te nui o tēnei glucose.

Nā, ina iti iho, kāore rānei e puta te whākōkī `myophosphorylase` nā ngā panonitanga o te ira `PYGM`, kāore e taea e ō tātou pūtau uaua te wawahi tika i te `glycogen` me te whakaputa pūngao (`glucose`). Koia te take ka tere ngenge ai ngā uaua.

Kua kitea e ngā kairangahau e 179 ngā rerekētanga (rerekētanga) e pā ana ki te ira 'PYGM'.

Te tukunga iho o te mate McArdle

Ka riro mai i a koe te mate i ō mātua tūturu, i roto i te tauira "autosomal recessive" . He māmā noa iho, me "kaikawe" e ngā mātua e rua te ira kua whakarerekētia, arā, kei te taha tonu te ira i a rāua.Kāore e kitea ngā tohumate e ngā kaikawe mate. Heoi, ki te mea he kaikawe mate ngā mātua e rua, ā, ka tukuna e rāua te ira kua whakarerekētia ki ā rāua tamariki, ka puta te mate.

Me pēhea te tautuhi a ngā tākuta i tēnei mate? (Tautuhinga)

Ko te whakamātautau whakakorikori ringa te tikanga matua a ngā tākuta hei tātaritanga i tēnei mate. Ko te tango toto i mua atu, ā, i muri i te whakakorikori ringa. Ina koa, ka tirohia ngā taumata o te 'waikawa lactic' me te 'haukini' .

I te nuinga o te wā, me piki ake ngā taumata o te waikawa lactic mā te toru ngā wā i muri i te whakakori tinana. Heoi, ki te kore e piki ake ō taumata waikawa lactic i tēnei whakamātautau, he tohu tēnei kei a koe te mate a McArdle.

Tērā atu anō ngā whakamātautau hei āwhina i te whakaū i tēnei mate:

• Whakamātautau toto Creatine kinase (CK): Ina pakaru ngā uaua, ka puta he whākōkī e kīia nei ko te creatine kinase (CK) ki roto i te toto. Tērā pea he nui tonu ngā taumata o te CK i te hunga whai mate a McArdle.
• Whakamātautau ahotea whakakori tinana kua whakarōpūtia: Ka taea e tēnei te whakamātautau mō te āhuatanga e mōhiotia ana ko te "hau tuarua." Ka meinga koe e te tākuta kia mahi i ētahi rauna whakakori tinana, kia okioki i waenganui, ā, kia kite mēnā ka taea e koe te mahi i te whakakori tinana i muri i te okiokinga.
• Te koiora uaua: I tēnei whakamātautau, ka tangohia e te tākuta tētahi tauira iti o tō uaua angaiwi ka tukuna ki tētahi taiwhanga kia tirohia i raro i te karuārai. Ka tirohia e te tākuta mate te kiko kia kitea ai mēnā he tohu o te mate McArdle.
• Whakamātautau ira: Tērā pea ka taea e tēnei te tautuhi i te whakarerekētanga ira motuhake e puta ai te mate McArdle.

He aha tā tātou e taea ai te mahi mō tēnei? (Maimoatanga)

Engari, kāore he rongoā mō te mate a McArdle. Ko te maimoatanga matua ko te karo i ngā mahi e whakanui ana i ō tohu. Heoi, ko te kore e mahi i tētahi mahi ā-tinana ehara i te mea pai mō tō hauora.

Kua whakaatuhia e ngā rangahau he pai te whakaora tinana ā-pūngao, ā-whakarei, mō te hunga whai mate McArdle. Ko te hunga e mahi ana i tēnei momo whakakori tinana kua tino heke te manawanui ki te whakakori tinana, ā, ka tere ake te wheako i taua "hau tuarua" i te wā e whakakori tinana ana. Ka taea e koe te mahi tahi me tō tākuta me te kaiwhakaora tinana ki te kimi i te mahere whakaora tinana pai rawa atu māu.

Waihoki, he kai e nui ana i te warowaihāE whakaatu ana ngā rangahau ka taea hoki e te tango i tēnei rongoā te whakaiti i te kaha o ngā tohu e puta ana i te wā e whakakorikori ana. Ka āwhina tēnei i ō uaua ki te whakamahi i te huka (glucose) i roto i ō toto hei utu mō te glycogen hei pūngao. Ka taea e tō tākuta, e te tohunga kai rānei te tūtohu i tētahi mahere kai pēnei:

• Me ahu mai te 65% o ō kaora o ia rā i ngā warowaihā matatini (mai i ngā mea pēnei i ngā huawhenua, ngā hua rākau, te taro, te rimurapa, me te raihi).
• 20% o ngā kaora mai i te ngako .
• 15% o ngā kaora mai i te pūmua .

He mea āwhina anō hoki te kai i te huka māmā, pērā i te inu hākinakina huka, i mua tata i te whakakori tinana.

Me pēhea te noho tahi me tēnei?

Ko te nuinga o te hunga e pāngia ana e te mate McArdle he oranga noa iho . Tērā pea ka pāngia ētahi e te ngoikore tonu me te ngenge uaua ('atrophy') i muri mai i te oranga, i te nuinga o te wā i roto i ō rātou tau 60, 70 rānei.

Ko te mea nui kia mōhio koe ki ngā tohu o te mate 'rhabdomyolysis' kua whakahuatia ake nei , me te ārai i tōna putanga mai i ngā wā katoa, nā te mea koinei te raruraru matua o tēnei mate.

He aha te roanga o te oranga o te tangata kua pāngia e tēnei mate?

Kāore te mate McArdle e pā ki te roanga o te ora .

Heoi, he tino onge te kitea o tētahi mate e kiia nei ko te 'infantile McArdle syndrome' , ka puta tata tonu mai i muri i te whānautanga. He mate tēnei – he kino ngā tohu, ā, ka tere te kino haere.

Ka taea te ārai i te mate a McArdle?

I te mea he mate ira tēnei, kāore he mea e taea e tātou te mahi hei ārai .

Mena kei te āwangawanga koe mō te tūponotanga o te tuku iho i te mate McArdle, i ētahi atu mate ira rānei i mua i te whānautanga o tētahi tamaiti, he mea pai kia kōrero koe ki tō tākuta mō te tohutohu ira .

Āhea ahau me toro atu ki te tākuta?

Ki te kino haere ō tohumate, ki te rerekē rānei tō kaha ki te mahi i ō mahi ā-tinana o ia rā, me toro atu ki tō tākuta.

Me toro atu pea koe ki tētahi kaiwhakaora tinana, ki tētahi tohunga kai rānei i ia wā, i ia wā, hei ārahi i a koe mō tō mahere maimoatanga.

Āhea koe me haere ki te Wāhanga Maimoatanga Ohotata (ETU) ?

Mena kei a koe ngā tohu o te 'rhabdomyolysis', me haere koe ki te rūma whawhati tata (ETU) i te wā e taea ai . Ko ngā tohu ko:

• Pupuhi uaua
• ngoikore o te uaua
• Te mamae me te mamae ina pā ki ngā uaua
• He mimi pouri (parauri, whero, tae tī)
• Te maroketanga
• Te whakahekenga o te mimi
• Whakapairuaki
• Ngaronga o te māramatanga

Ka uaua pea te mahi i ētahi mahi ā-tinana nā te mate a McArdle. Engari ko te rongo pai,Ka taea te whakahaere , ā, kāore he pānga nui ki tō hauora whānui. Ka mahi tahi tō tākuta me koe ki te kimi i te mahere maimoatanga pai rawa atu māu.

Karere Tangohia ki te Kāinga

Āe, me whakamahara atu mātou ki a koe i ētahi mea kua kōrerohia e mātou, ā, ki tā mātou whakaaro he mea nui ki a koe:

Ko te mate McArdle he mate ira e hua mai ana i te korenga o tētahi whākōkī e āwhina ana i ngā uaua ki te whakaputa pūngao.

Ko ngā tohu matua ko te tere o te ngenge, te mamae o ngā uaua, me te takahurihuri i te wā e whakakorikori tinana ana.

Kia tūpato ki te raruraru nui e kiia nei ko te `rhabdomyolysis`. Mēnā ka pāngia koe e ēnei tohu, me toro atu ki te tākuta tonu.

Ahakoa kāore he rongoā motuhake mō tēnei, ka taea te whakahaere pai mā te whakakori tinana me te kai tika, ā, ka taea e koe te noho i te oranga noa.

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

Kia maumahara, kāore koe i te mokemoke. Mā te mōhiotanga tika me te tautoko tika, ka taea e koe te whakatau i tēnei āhuatanga.

Mate McArdle , GSD5, Mate McArdle, Mamae Uaua, Whakakorikori Tinana, Mate Ira, Glycogen, Myophosphorylase, Rhabdomyolysis, Manawanui Whakakorikori Tinana