Kei te kanikani ngā uaua o tō tinana? Kei te neke haere pērā i ngā ngaru? Me ako tātou mō te Mate Uaua Rippling!

Kua kite koe, kua rongo rānei i ō uaua e wiri ana, me te mea kei te ngaru, kei te piri katoa rānei? I ētahi wā ka whakaaro koe he mea kē noa iho, engari he tohu pea tēnei mō tētahi mate onge engari he mea nui kia mōhio koe. Koinei tā tātou e kōrero ai i tēnei rā, arā, te Mate Uaua Rippling . Kaua e manukanuka, kia māmā noa iho.

He aha te mate uaua rippling?

He whakarāpopototanga noa iho, he mate onge te Mate Uaua Rippling e pā ana ki tō tātou pūnaha io me ngā uaua. E kiia ana hoki e ngā tākuta he mate io-uaua . I roto i tēnei, ka auau te whakawhāiti o ō tātou uaua, ā, kāore e taea te whakahaere, ka pakari ai, ā, i ētahi wā ka nui rawa te tipu, e kiia nei ko te hypertrophy .

Ka tīmata ēnei tohu i te mutunga o te tamarikitanga, i te tīmatanga rānei o te taiohitanga, engari he mea nui kia mahara ka puta pea te mate i ngā tau katoa.

He aha ngā tohu o tēnei mate? He aha tonu te mea e tupu ana?

E ai ki te ingoa, ko te mate uaua Rippling e pā nui ana ki ō tātou uaua, inā koa ko ngā uaua e tata ana ki waenganui o te tinana (ngā uaua proximal) . Ina koa, ko ngā uaua o ō tātou huha (quadriceps) te mea tino pāngia.

Mena kei a koe te (RMD), ko te tikanga he "whakaohooho" ō uaua, he "tere whakaohooho" rānei. Ko te tikanga he rerekē te tauhohenga a ō uaua ahakoa te pā, te pēhanga rānei.

Ko ngā tohu tino kitea o tēnei mate ko:

• Pukenga uaua: Hei whakamārama, ka huihui ō uaua ki te wāhi kotahi, ka rite ki te "pukenga".
• Te whakakorikori uaua auau: Ka roa pea tēnei mō te 30 hēkona.

Ka puta ēnei tohu e rua ina pā whakarere mai tetahi mea ki tō huha, pērā i te wā e tukinga ana koe ki tetahi mea. Hei tauira, ki te tukinga koe ki tētahi tatau, ka piri, ka mārō pea te uaua o tō huha.

Tata ki te 60% o te hunga whai RMD ka pāngia e te wiri o te uaua. He wiri tēnei o te uaua e rite ana ki te kutukutu e ngokingoki ana i raro i te kiri. E 5 ki te 20 hēkona te roa o tēnei. Ko te nuinga o te wā ka puta tēnei ina totoro koe i te uaua.

Ko ētahi atu tohu ka kitea pea ko:

• Ngenge: Ehara i te ngenge noa iho, engari he ngenge nui rawa e puta mai ana me te kore take.
• Ngā mamae uaua: He mamae uaua ohorere, kino hoki e puta ai te mamae nui.
• Te pakari o te uaua:He uaua ki te whakapiko, ki te wetewete rānei i te mīti.

Ka kino haere pea ēnei tohu i muri i te whakakori tinana kaha, i te makariri rānei. Mō ētahi tāngata, ka nui rawa atu ētahi o ngā uaua (hypertrophy) ā, ka paku rerekē pea te momo hikoi (āhua haere rerekē) .

He mamae tēnei mate?

Ae, ka taea e te (Mate Uaua Rippling) te whakararu i te mamae o te uaua. Ina koa ka whakawhāiti tonu te uaua, ka kaha ake te mamae mena ka roa te mamae. Waihoki, ina hurihuri te uaua (ngā kōroke) ka puta te mamae. Whakaarohia te uaua mena ka piri tonu te uaua o tō waewae.

He aha te take o te mate uaua rippling?

Ko te Mate Uaua Rippling he maha ngā wā ka puta mai i ngā whakarerekētanga o tētahi ira e kiia nei ko CAV3, e riro mai ana i ō tātou mātua. E kī ana te ira CAV3 ki ō tātou tinana kia hanga he pūmua e kiia nei ko te caveolin-3 . Kei roto i te kiriuhi e karapoti ana i ngā pūtau uaua tēnei pūmua. E whakapono ana hoki ngā kairangahau ka āwhina tēnei pūmua ki te whakahaere i ngā taumata konupūmā , e āwhina ana i ngā uaua ki te whakawhāiti me te totoro.

Mō te hunga whai RMD, ka heke te hanga o te pūmua caveolin-3 nā te whakarerekētanga o te ira CAV3. E whakapono ana ngā kairangahau nā te korenga o te pūmua i whakahaeretia ai ngā taumata konupūmā i roto i ngā pūtau uaua. Nō reira, ka mimiti haere ngā uaua i te āhua rerekē i te mea he pana, he tō rānei.

He maha ngā momo whakarerekētanga ira i roto i tēnei ira (CAV3). Ko ngā mate e pā ana ki ngā repe mīti i puta mai i ēnei whakarerekētanga ira ka kiia ko ngā (caveolinopathies) . Haunga te (RMD), he maha atu anō ngā mate kei roto i tēnei rōpū:

• (Te mate pūngao uaua o te taha-ringa-ringa autosomal dominant) (i mōhiotia i mua ko LGMD1C)
• (Te mate manawa hypertrophic) (He mate manawa tēnei)
• (HiperCKemia motuhake) (He āhuatanga e piki ake ai te whākōkī creatine kinase i roto i te toto)
• (te myopathy distal e pā ana ki te CAV3) (he mate e pā ana ki ngā uaua o ngā pito distal)

I roto i ēnei āhuatanga, i ētahi wā ka kitea ngā tohu pēnei i te whakahekenga o ngā uaua, pērā i ngā kita, i roto i te (RMD).

Kua pūrongohia hoki tētahi momo mate pūmau o te Rippling Muscle Disease, e pā ana ki te mate pūmau Myasthenia gravis . Kāore he whakarerekētanga ira CAV3 i roto i aua tāngata. Ko te tikanga, ka whakaekea e tō rātou ake pūnaha ārai mate ngā muka uaua.

Me pēhea tātou e whiwhi ai i tēnei (Mate Uaua Rippling)?

I te nuinga o te wā, ka tukuna iho te Mate Uaua Rippling i roto i te tauira autosomal dominant . I te whakarāpopototanga, ko te tikanga ka pāngia koe e te mate mēnā ka riro mai i a koe tētahi kape o te ira CAV3 kua whakarerekētia mai i tō whaea, i tō pāpā rānei. Ka taea tēnei te tupu ahakoa kotahi noa te ira kei a koe.

I ētahi wā onge, ka taea te tuku iho i te RMD i roto i te tauira autosomal recessive . Ko te tikanga me tuku iho e koe ngā tārua e rua o te ira CAV3 kua whakarerekētia, mai i tō whaea me tō pāpā.

Ko te hunga kua pāngia e te Mate Uaua Rippling i te āhua autosomal recessive, tera pea ka paku kino ake ngā tohumate i te hunga kua pāngia e te āhua autosomal dominant.

He tino onge, ka puta te RMD nā ngā whakarerekētanga ira hou, kāore he hītori whānau. Ko te tikanga ka puta ake tēnei hapa ira i roto i te tinana o te tangata mō te wā tuatahi, me te kore e riro mai i ōna mātua.

Me pēhea te tautuhi tika a ngā tākuta i te mate uaua Rippling?

Ka whakamahia e ngā tākuta ēnei whakamātautau me ngā tikanga hei tautuhi i te mate Rippling Muscle Disease, engari kāore e hiahiatia ana e te katoa te mahi i ēnei mea katoa.

• Hītori hauora: Ka pātai te tākuta mō ō tohumate, mehemea rānei kua pāngia tētahi o tō whānau e te RMD, e ētahi atu mate caveolinopathies rānei.
• Ngā whakamātautau tinana me te pūnaha io: Ka tirohia e te tākuta te āhua o ō uaua me te mahi a ō io.
• Whakamātautau toto mō te creatine kinase: Ina pakaru te kiko uaua, ka piki ake tēnei whākōkī (creatine kinase) i roto i te toto.
• Electromyography (EMG): Mā tēnei ka whakamātautau i te ngohe hiko o ngā muka uaua.
• Kohikohi uaua: Ka tangohia he wahi iti o te uaua ka tirotirohia i raro i te karu hiko.
• Ngā whakamātautau paturopi: Ka mahia ēnei whakamātautau hei tirotiro mēnā he mate pūnaha ārai mate te (RMD).
• Whakamātautau ira: Koinei te huarahi pai ki te kimi mēnā he huringa kei roto i te ira (CAV3).

Mā ēnei whakamātautau ka taea te whakakore i ētahi atu mate he rite ngā tohu, ā, ka whakaū hoki i te Mate Uaua Rippling.

I te wā e tirotirohia ana koe, ka tukuna pea koe e tō tākuta ki tētahi tohunga, pērā i te tohunga roro , i te tohunga ira rānei.

He aha ngā maimoatanga mō tēnei?

Ko te maimoatanga mō te Mate Uaua Rippling e whakawhirinaki ana ki te mea he take ira, he take pūnaha ārai mate rānei.

Te maimoatanga ira:

Ko te nuinga o tēnei ko te whakahaere i ngā tohu me te tuku atu ki te tohungatanga ira . Mena he tino kino te hurihuri, te whakaiti rānei o ngā porotiti, tera pea ka āwhina ētahi rongoā. Ko ētahi o ēnei rongoā ko:

• (Dantrolene): He rongoā whakangāwari uaua tēnei.
• (Ngā kaitukino o te hongere konupūmā):He rongoā ēnei e aukati ana i ngā awa konupūmā.
• Benzodiazepines: Ka whakangāwari ēnei i ngā uaua, ka whakaiti hoki i te manukanuka.

Te maimoatanga ārai mate:

Ka taea te rongoā i tēnei mā te rongoā ārai mate , ki te mea rānei he thymoma tōu (he pukupuku i roto i te repe thymus), ka taea te mahi pokanga hei tango i te repe thymus (thymectomy) .

Ka taea e tātou te ārai i tēnei whanaketanga (te Mate Uaua Rippling)?

Nā te mea he mea tuku iho te Mate Uaua Rippling, kāore he mea e taea e tātou te mahi hei ārai. Ehara i te mea ka taea e tātou te whakahaere.

Heoi, ki te mea kei te āwangawanga koe mō te tūponotanga o te tuku i te RMD, i ētahi atu mate ira rānei ki tāu tamaiti i mua i te whānautanga o tāu tamaiti, he mea tino nui kia kōrero koe ki tō tākuta mō te tohutohu ira kia mārama ai koe.

Āhea ahau me toro atu ki te tākuta?

• Ki te kino haere ō tohu RMD , ki te puta pinepine rānei , me kōrero koe ki tō tākuta.
• Mena kua tāpaetia tētahi o tō whānau ki te mate Rippling Muscle Disease, pātai atu ki tō tākuta mena kei te mōrearea koe, ētahi atu rānei o tō whānau ki te pāngia e tēnei mate.

He aha ngā pātai me pātai atu e au ki taku tākuta?

Tērā pea ka whai hua te pātai atu ki tō tākuta i ēnei pātai:

• He aha taku e taea ai hei whakahaere i aku tohumate?
• Ko tēhea tikanga maimoatanga te mea pai mōku?
• Ka taea e aku tamariki te whiwhi i te Mate Uaua Rippling mai i ahau?
• Me whakamātauria rānei ētahi atu o tōku whānau mō te Mate Uaua Rippling?

Mā te pātai i ēnei pātai, ka pai ake tō māramatanga ki tēnei āhuatanga.

Ka pāngia te ngākau e te mate uaua ripo?

Kāore te Mate Uaua Rippling e pā tika ki te ngākau. Heoi, ko te RMD me te hypertrophic cardiomyopathy e puta mai ana i ngā whakarerekētanga ira i roto i te ira kotahi (CAV3), nō reira he hononga kei waenganui i ngā mate e rua. Ahakoa he tino onge, ka pā pea ngā whakarerekētanga ira i roto i te ira CAV3 ki te uaua ngākau me ētahi atu kiko uaua o te tinana. Engari he tino onge.

He mate te (Mate Uaua Rippling)?

Ehara te Mate Uaua Rippling i te mea whakamate. Ara, ehara i te mea morearea ki te ora. Heoi, ko ngā tohu o te (RMD) pēnei i te whakahekenga o te uaua pēnei i te kita ka taea hoki te noho hei tohu o ētahi atu mate (caveolinopathies) i puta mai i ngā whakarerekētanga ira kua whakahuatia ake nei (CAV3).

O ngā caveolinopathies, ko ngā take kino o te autosomal dominant limb-girdle muscular dystrophy me te hypertrophic cardiomyopathy ka mōrearea pea i ētahi wā.

He mea noa te pōuri ina kitea he mate ira tōu, inā koa he mate onge. Engari kia maumahara, kei reira tō tīma hauora hei whakamārama i te Mate Uaua Rippling ki a koe, hei kōrero atu ki a koe me pēhea te pānga ki a koe, me te āwhina i a koe ki te kimi i te huarahi pai hei whakahaere i ō tohumate.

Ngā mea tino nui hei maumahara (Karere hei kawe ki te kāinga)

Āe, kua mārama kē koe ki tā tātou i kōrero ai (Te Mate Uaua Rippling). Hei whakarāpopototanga:

• Ko te Mate Uaua Rippling he mate uaua onge e tohuhia ana e te wiri o te uaua, te miro, te pakari, me te piko.
• I te nuinga o te wā, ka puta tēnei i ngā take ira (ira CAV3) . I ētahi wā, tera pea he take ā-pūnaha ārai mate anō hoki.
• Ehara tēnei i te mate whakamate , engari ko ētahi atu mate caveolinopathies e pā ana ki tēnei ka kino pea.
• Ki te pā mai ēnei tohu ki a koe, kaua e mataku, engari me rapu tohutohu hauora . Ko te mea nui ko te kimi i te tautuhi tika me te whiwhi i te maimoatanga me ngā tohutohu e tika ana.
• He tino whai hua te tohutohu ira i roto i ēnei āhuatanga.

Ki te hiahia koe ki te mōhio atu mō tēnei, ki te whakaaro rānei koe kei a koe ēnei tohu, tēnā tirohia he tākuta. Kaua e mataku, he otinga kei reira mō ngā mea katoa.

` Te Mate Uaua Rippling, te wiri o te uaua, te whakaheke uaua, te ira CAV3, te mamae uaua, ngā mate ira, ngā mate pūnaha ārai mate