ʻO Duchenne muscular dystrophy (mdd)
ʻO kā Duchenne muscular dystrophy kahi o nāʻano maʻamau o kēia maʻi. Hoʻomaopopo ka maʻi i ka makahikiʻelua o ke ola a loaʻa wale i nā keikikāne, e pili ana i kaʻano hoʻohālike o X-linked. ʻO nā hōʻailona o kēia mau mea he mea maʻamau no DMD.
■ Nāwaliwali o ka maʻi. Hiki keʻikea i ka wā o ka heleʻana o ke keiki i ka wāwae a iʻole ka mau lālā. Hiki i ke keiki ke hele holoʻokoʻa, hikiʻole ke piʻi i ke alapiʻi, ke kū i luna i nā wāwae wale nō me ke kōkuaʻana o nā lima. ʻO ka mea hope loa e ulu mai ana mai ka nawaliwali o nā neʻopaʻo pelvic i kapaʻiaʻo ke kaha Gauer.
■ʻOiaiʻaʻole nāwaliwali o nā mumua aʻaʻole heʻeha i kaomiʻia, ua paʻakikī ka mea maʻi i ka hana i kekahi mau hana. Ua nāwaliwali nāʻiʻo i hoʻopiliʻia, akā uaʻike pinepineʻia ka nui - ua kapaʻia kēiaʻano he pseudohypertrophy.
■ Ka hoʻomauʻana i ke kaʻa. Nā mea e hōʻike ana no ka hopena o ka pae o DMD. ʻO ka manawa ma ka manawa e nāwaliwali ai kekahi mauʻiʻo, e ikaika ana nāʻiʻo o ka hakakā, a hoʻomaka nā keiki maʻi, e like me keʻano, e hele ma ke poʻo. He mea paʻakikī ka mālamaʻana i ke kūlana o ke kino, aʻo nā mea maʻi ke koi aku i kahi kaʻa huila.
■ Hoʻokumu ka mea maʻi i ka holomua o ka hoʻololi a me ka loloʻana o nā iwi, nāwaliwali, a ma ka makahiki 10 o ka makahiki, ua lilo ka hapa nui o nā maʻi i meaʻole. ʻO nā maʻi ma mua o ka 20 makahiki. ʻO ke kumu o ka make he maʻi pulmonary, me ka nāwaliwali o nā'ōpū hanu, a iʻole ka hopena āpau.
Nā kūlanaʻole o ka dystrophy muscular
Aia kekahi mauʻano likeʻole o ka dystrophy muscular. ʻO ka dystrophy muscular a Becker kahi maʻi e pili ana i ka X-chromosome,ʻoi aʻe ka maikaʻi ma mua o Duchenne's, e hōʻike ana ma ka 5 a 25 mau makahiki. ʻO nā kānaka me kēiaʻano dystrophy ola lōʻihi ma mua me DMD. Hoʻohālike ka Dystrophy o ke kāʻei poʻohiwi me ke ala like i nā mea o nā wāhineʻelua a ke hōʻike pinepine iā ia iho ma ka makahiki 20-30. Ma kahi o 50% o nā kānaka e loaʻa nei i kēiaʻano dystrophy,ʻikeʻia ka nawaliwali ma ka kāʻei o ka humeral aʻaʻole paha e palahalaha i ke kāʻei o lalo, akā i nā mea'ē aʻe e pilikia mua nā mumū o kaʻeha hope loa, aʻikeʻia ka nawaliwali ma ke kāʻei poʻohiwi ma hope o 10 mau makahiki. ʻO keʻano o kēia maʻi heʻoi aku ka maikaʻi o ka maʻi i kēlā mau maʻi i loaʻa mua i nā lālā luna. Hoʻopiliʻia ka'ōpili āpau o ka'ōlohelohe i keʻano o keʻano o ka wahine a me ka hoʻopili pinepineʻana i nā maka o nā wāhineʻelua. Hiki iā ia ke hana i kekahi mau makahiki, akā,ʻikeʻia keʻano o ka manawa mua i ka poʻe'ōpio. ʻO kēiaʻano dystrophia kahi i kapaʻia e ka "scales" pigegoid. Loaʻa kekahi poʻe i ka liposis ikaika (curvature o ka huelo). ʻO ka nawaliwali o nāʻokoʻa o ke kino e alakaʻi aku ai i kaʻoiaʻiʻoʻaʻole hiki i nā kānaka ke haʻalulu, huki i ko lākou lehelehe a hoʻopiliʻana i ko lākou mau maka. Ma muli o ka hopena o nā puʻupuʻu, hiki ke hōʻemiʻia a me ka liʻiliʻi lima liʻiliʻi iʻole e hiki paha i kahi "pani huki". ʻAʻole he lāʻau lapaʻau no ka dystrophy muscular, akāʻo nā pilikia, e like me nā maʻiʻehā a me nā maʻi urinary, e pono ai i nā lāʻau'alopelo.
Hoʻomaʻa i nā hana ma lalo nei:
■ Hoʻolālā kino - hiki ke ho'ēmi i ka uluʻana o ka nāwaliwali a me ka palena o ka neʻeʻana; hana maikaʻi nā papahana ma lalo o ka mākaʻikaʻi o ka physiotherapist.
■ Ke kuʻiʻana i nā kolo, kahi e hoʻopauʻia ai.
■ Me keʻano o nā disformities a me nāʻano o ka'ōiwi, e koiʻia ana nā kinakoki hoʻoponopono.
■ Ke kaʻina hana o nā kakon pokole.
■ He mea koʻikoʻi ke kōkua aʻohonua; kōkua nui no kaʻohana a me ka hoʻomaha home.
Ka hōʻailona a me ka pōʻino
I kekahi mau kumu, aia me Duchenne's dystrophy, he kūponoʻole ka hōʻailona o ka maʻi. Hiki i ke kūpono o ke kīnā ke koʻikoʻi, hiki i ka poʻe maʻi ke haʻalele i ka hele. ʻO ka hapanui o nā maʻi me ka dystrophic o ka pale kāʻei poʻohiwi e hiki ke kōkua i ke alakaʻiʻana i kahi ola piha, i ka liuliu iki i loko o 20-40 mau makahiki, ai kekahi manawa aku. ʻO nā kānaka e hoʻomohala i ka dystrophy muscular i ka hopena o ka'ōpiopio ke loaʻa ka'ōkuhi maikaʻi. ʻAʻole i hiki ke hiki i ka prophylaxis o ka dystrophic muscular, akā naʻe, ua loaʻa i kaʻikeʻana o kahi pūpū hemaʻole ka hikiʻana o ke gene healing.
ʻO ke kūpikipiki o ka maʻi
ʻO ka maʻi dicstrophy he maʻi kūponoʻole, akā, he maʻamau ka honua a puni i nā lāhui o nā lāhui a pau. ʻO keʻano maʻamau - Duchenne muscular dystrophy - e puka me ke alapine o 3 mau helu no nā keiki 10,000.
Nā kumu
ʻO nāʻano a pau o ka dystrophy muscular nā kumu i loaʻa i ke kumu, akāʻaʻoleʻikeʻia ke kumu kumu o ka degeneration o ke kino. Malia paha ke kumu nui o ka hewa i loko o ka membrane cell, a me ka manaʻole e hāʻawi aku i nā kinona calcium i loko o ke kelepona, kahi e hoʻopili ai i nā proteases (enzymes) e kōkua i ka lukuʻiaʻana o nā uala muscle. ʻIke hiki i ka'ikepona prenatal i keʻano o ka huliʻana i ka wai o ka waiwai ma mua o ka hoʻounaʻana. Eia naʻe,ʻo nā mākua i loaʻa i ka maʻi muscular dystrophy, ma mua o ka hānauʻana i kā lākou pēpē, pono lākou i ka'ōlelo aʻo kino.
Nā diagnostics
ʻO keʻano o nā loiloi holomua eʻikeʻia ana i ka maʻi. I nā maʻi,ʻo ia me ka dystrophic Duchenne, aia kahi kiʻekiʻe o ka creatine kinase i loko o ke koko. I mea e wehewehe ai i ka dystrophy mai nā maʻi'ē aʻe, pono paha e hana i ka electromyography. Hōʻoia ka hōʻailona i kahi biopsy; ʻikeʻia nāʻikepili histochemical e wehewehe i ka dystrophy mai nāʻano likeʻole o nā myopathies.