Mēmeke uaua Duchenne. mate tuku

He maha mate rerekē e puta i roto i ngā tamariki, ahakoa a huru ranei taiao o te whakamahi. Ko tenei kāwai o mate tuku. Na ka kōrero tatou e pā ana ki te raruraru pērā i Duchenne te mēmeke aha te mea tenei mate pera, he aha ona tohumate me mēnā ka taea e koe te mahi ki a te reira.

kupu

I te tīmatanga, e hiahia ana koe ki te mohio he aha te mea te mate tuku. Na, he mate e puta rite ki te hua o mea kohakore i taputapu tuku o ngā pūtau enei. Ko, ko reira etahi rahunga e puta i te taumata ira.

Mēmeke uaua Duchenne - ko te mate tuku tenei. puta reira rawa hohoro, te tohu matua i roto i tenei take - ko te ngoikore uaua tere ahu whakamua. Me kï hoki: rite atu katoa mate uaua, ai mate a te mēmeke ano te hua whakamutunga ki te uaua atrophy, tauwhatinga o ngā pūkenga nekeneke me, o te akoranga, hauātanga. I roto i te taiohitanga, tamariki ki tenei tātaritanga kore i te kaha ki te neke takitahi me kore e taea te mahi i waho te tauturu.

Eaha te tupu i te taumata iranga

Ka rite ki kua tuhia, te mēmeke uaua Duchenne - he mate ira. Hei tauira, he irakētanga i roto i te ira e te kawenga mō te hanga o te dystrophin pūmua motuhake. E te hiahiatia e ia mo muka uaua noa. He mea nui ki te mōhio e rānei e taea te riro te irakētanga ira puta noa ranei.

He mea nui hoki ki te mōhio e paetata te ira i runga i te pūira X. Ko wahine ki tenei mate e kore e taea e kino, rite anake te tuku o irakētanga i whakatupuranga ki whakatupuranga. Ko, ki te ka tika i te whaea te irakētanga ki tana tama, ko ia he 50% tūponotanga o mate. Ki te he kotiro, ka haere noa ia ki te waiho i te kaikawe o te ira, te mau faaiteraa haumanu o te mate e kore e ia.

Tohutanga: Rōpū

Fele, Kei te kaha whakapuaki te mate ano i roto i pā ana ki 5-6 tau o tau. Heoi, kia puta te tohu tuatahi i roto i te tamaiti e kore nei e tae i te tau o toru. Me kï reira e disorders pathological katoa MEDCO wehea conventionally ki te maha ngā rōpū nui:

1. mate uaua.
2. Tūkino ki te uaua ngakau.
3. hira kōhiwi o tamaiti.
4. Various disorders endocrine.
5. Rangirua o te mahi hinengaro.

Ko te mau faaiteraa tino noa o te mate

Kia tino ki te hiahia hoki ki te kōrero e pā ana ki te pehea, ki te faaite mai te mēmeke syndrome. Ko nga tohu e whai ake:

• Ngoikore. āta te nei tipu, tipu.
• E haamata te ahu whakamua ngoikore uaua ko ki te topito o runga, ka pa ona waewae, a ka anake - te tahi atu wahi katoa o te tinana, i nga okana.
• ngaro te tamaiti te kaha ki te neke ia ia. I pā ana ki 12 tau o te tau e kua te kuao rawa ti'aturi i runga i te tūru wīra.
• Ano, i reira he disorders o te pūnaha romahā.
• A, o te akoranga, i reira he kōtītiti i roto i te pūnaha cardiac. I muri mai, huringa tina heke i roto i te myocardium.

I runga i te hinga o te uaua kōhiwi

E whakangaromanga o te uaua kikokiko - te tohu tino noa, ki te e korero tatou e pā ana ki te raruraru pērā i syndrome o te mēmeke. Me kï reira e whanau pēpi e kahore tetahi ine i roto i te whanaketanga. I te kuao tau e paruparu me te pūkoro atu hoa tamariki. Ko te nuinga o maha e whai pānga ai ki te ngākau, me te huru o te tamaiti. Na reira e tino uaua kitea ine. puta kē atu tino tohu i roto i te tamaiti atu. Ka taea e taua tamariki te haere i runga i atu leva, kahore hoko he mutu tonu. Ano, ratou maha hinga.

A, no te kē e taea te mea i te tamaiti ia tonu amuamu o ngoikore, te mamae i roto i te wahi, rohirohi. e kore e ēnei kongakonga rite ki te rere, te peke. Tetahi kawenga tinana kore ratou e rite, a tamata ratou ki te karo i te reira. "Ki te mea" e te tamaiti te mēmeke uaua Duchenne, i taea e ara te haere. riro te reira i rite te parera. Nga tamariki, pera i transshipped reira i waewae ki waewae.

Ko hoki te tohu motuhake te tohu o Gowers. Ko te tamaiti ki te piki ake i te patunga witi, kaha whakamahi ana ringa, me te mea piki ake ia.

Me mahara hoki käore te reira e ki te raruraru pērā i syndrome o te mēmeke, te tamaiti āta atrophied uaua. Otiia maha tupu te reira e te kongakonga waho mea uaua rawa matatau. Ko te tamaiti noa ki te vskidku tuatahi puta, me te mea mäminga. Ko Ko anake he tokonga whatu tenei. Ko te mea, ko te e i roto i te akoranga o te muka uaua mate āta wahia iho, ka nohoia o ratou wahi e kiko adipose. No reira, he taua ahua faahiahia.

He bit o deformities kōhiwi

Ki te he Duchenne ahu whakamua te tamaiti, māmālie, ka huri i te tamaiti te āhua o te tuahiwi. pānga māuiuitanga Tuatahi te rohe lumbar, ka reira scoliosis, puta ie curvature tuaiwi rei. I muri mai a faaite mai piko me, o te akoranga, ka huri i te āhua noa o te waewae. Ka tenei tohu katoa ki te whānuitanga nui kia haere tahi e te ino o te mahi nekeneke o te tamaiti.

Mō te uaua ngakau

Ko hoki tohumate herea i roto i tenei mate kino ki te uaua ngakau. He he takahi o te manawataki ngakau, i reira e auau pata pēhanga toto. I roto i tenei take, tupu te ngakau i roto i te rahi. Ko tona taumahinga i runga i te anga ke, heke. A, kia rite ki te hua o te kore ngakau te āta i hanga. Ki te te ngā tonu te raruraru ki te kore romahā, i reira te mea he tūponotanga nui o te mate.

Maumaui o mahi hinengaro

Me kï reira e te Duchenne te mēmeke, e Becker kore tonu tohu kitea pērā i te retardation hinengaro. kia hono te reira ki hē o taua matū rite apodistrofin tika mō te mahi roro. Ka taea e hauātanga hinengaro kia tino rerekē - i ngawari retardation hinengaro ki idiocy. Te ähua o te waimaero hinengaro whai wāhi ki te ara i te ngoikore ki te haere kindergarten, kura, ngā karapu, me te tahi atu wahi i reira ngā tamariki. Ko te hua, ko te whakarerenga pāpori.

Disorders o te pūnaha endocrine

Various disorders endocrine puta i roto i kore ake atu i te 30-50% o tūroro katoa. Nuinga maha ko reira te taimaha te taikaha, te mōmonatanga. Ko te kupu e hoki i raro i te hunga tupu hoa pēpi.

mate putanga

He aha te mea te āhuatanga haumanu me te tahumaero o te mēmeke uaua Duchenne? Ko te kupu, ko te pā o te mate - 3.3 tūroro ia 100 mano iwi hauora. Me kï reira e te āta ahu whakamua uaua atrophy, me te tau-tau 15-tau e kore e taea te mahi i te tamaiti, kahore te awhina o etahi, he tino ta'e ngāue. Ki katoa, i reira te mea ano hoki he hononga auau o ngā mate kitakita (maha tika pūnaha urogenital me romahā), ki te kore tika tiaki mo te tamaiti bedsores puta. Ki te raruraru ki te pūnaha romahā hono ki te kore te ngakau, fakamanamanai reira te mate. Ki te kōrero tatou i roto i te whānui, enei tūroro tata kore e ora neke atu i te 30 tau.

tātaritanga o te mate

He aha te maimoatanga e taea tauturu denoted ki te tātaritanga o "te mēmeke uaua Duchenne"?

1. whakamātautau ira, e ko, te tātari DNA.
2. Electromyography, ka whakapumautia e te huringa i roto i te uaua tuatahi.
3. Uaua unuhanga ka reira he faaotiraa o te aroaro o te pūmua dystrophin i roto i te uaua.
4. He whakamātautau toto ki te whakatau i te taumata o te creatine. Me kï reira e tenei whākōkī tohu te mate o nga muka uaua.

maimoatanga

Fully ora i te mate, ko te taea. Ka taea e anake tetahi atawhai tohumate e ka meinga e te manawanui ora te iti māmā me te ake watea. Na, i muri i maka ana i te manawanui he tātaritanga taua, tino maha te whakaritea reira glyukokortikosterodami therapy e kua hangaia ki te pōturi te ahunga whakamua o te mate. Ētahi atu ngā tukanga e kia whakamahia mo tenei raruraru:

• ventilation atu.
• rongoā therapy, e hāngai ana nei te i te māori o te uaua ngakau.
• Ko te whakamahi o ngā whakaaro e whakarei nekeneke manawanui.

He mea nui hoki ki te mōhio e te whanaketanga hou he tikanga i tenei ra e kua i runga i te therapy ira , me te aukati transplantation pūtau.

Ētahi atu mate uaua

He hoki atu mate uaua congenital o ngā tamariki. ngā taua mate, i roto i te tua ki te mēmeke:

• Becker ma'ii'o. Ko te tino rite ki te syndrome o te mēmeke tenei mate.
• Duchenne Dreyfus. Ko te mate āta ahu whakamua i roto i i rongoa i te hinengaro te.
• Duchenne Haere, Erb-pirau. Faaite ake i roto i te taiohitanga, haereraa tere, mai wawe hauātanga.
• puka Glenohumeral-mata Landuzi-Dejerine ka paetata uaua ngoikore o te mata, pokohiwi.

Me kï reira e raro i tetahi o enei mate e kore e whakaatu ngoikore uaua i roto i te whanau hou. tohu katoa puta te nuinga i roto i te taiohi. Ko te roanga o te ora o te tūroro te tikanga e kore e nui ake te 30 tau.