Duchenne muscular dystrophy. hereditary maʻi

Aia i kekahi mau maʻi he nui loa e hana i loko o na keiki, nānā 'ole o ka noho ana a me' ia o ka hoʻohana. Kēia waeʻano mea o hereditary ka maʻi. Ano, e kamaʻilio pū mākou e pili ana ia i ka pilikia e like me muscular dystrophy Duchenne He aha ka keia maʻi ai, ka mea a kona mau symptoms, a ina paha e hiki ke hana me ia.

terminology

Initially, e pono ai ka mea ka i ike hereditary maʻi. No laila, i kēia mau mea maʻi e hana ana i ka hopena o ka mā ma hereditary i hoʻomākaukauʻia o nā keena. Ia mea, ia mea kekahi hoʻolako 'ole' e ana ma ka aaiaoe kiʻekiʻe.

Duchenne muscular dystrophy - keia mea he hereditary maʻi. Ua akaka loa koke, i ka papa kuhikuhiE symptom ma keia hihia - o ka hoʻomaka koke e holumua ai Muscle nawaliwali. It E e kaulana: e like a pau'ē Muscle maʻi, Duchenne ka maʻi no hoi ke kumu o ka hopena hope loa i ka Muscle atrophy, hoʻohuikau o Hawaii nā mākau, a, o ka papa, ke kīnā. Ma adolescence, keiki me kēiaʻike hou i ka hiki e neʻe kū kaʻawale, a hiki ole ke hana me ke kōkua.

He aha ka hana ma ka aaiaoe kiʻekiʻe

I ua kaulana, Duchenne muscular dystrophy - he aaiaoe maʻi. No ka laʻana, he mutation i loko o ka'ōewe i mea kuleana no ka? Iecaianoaaiiie o kūikawā kumuʻiʻo dystrophin. I ka mea, ua pono no ka maʻamau Muscle olona. He nui ka e hoailona oukou i hiki i kekahi ke aaiaoe mutation e ili paha ana spontaneously.

Ua mea i nui, e hoailona oukou i ka'ōewe ua IIeEeAIEUIeXAIIUE ma chromosome X. Akā, hiki ole na wahine me keia maʻi e iho, e like me ka lēkio leo wale o mutations, mai ia hanauna aku ia hanauna aku. Ia mea, ina o ka makuahine, e hele i ka mutation i kana keiki, oia mea he 50% pahiki o ka maʻi. Inā he kaikamahine, ia ia wale ana i ka ia i ka lawe ana o ka'ōewe, ka lapaʻau hoike ana mai o ka maʻi e makemake ai ole.

Symptomatology: Group

Holo nōhie, ka maʻi ua 'Imi asserting ia iho i loko o kahi o 5-6 makahiki o ka makahiki. Naʻe, ka mea mua symptoms e hana ana i loko o ke keiki ka mea i ole ma ka makahiki o ka ekolu. It E e kaulana ia a pau pathological kāna hana Medco conventionally puunaueia i loko o kekahi mau nui pūʻulu:

1. Muscle me keia poho.
2. Poino i ka naau Muscle.
3. keiki ka skeletal deformity.
4. Ke Kula Kaiapuni 'endocrine kāna hana.
5. Hoʻohuikau o noʻonoʻo haʻawina.

Ka loa e like me ka hoike ana mai o ka maʻi

E hōʻoia i ka hoi pono e kamailio e pili ana pehea e hoike Duchenne maʻi pale. Nā symptoms e like penei:

• Nawaliwali ka hoomaopopo ana. A ua kiʻekiʻe e ulu ana, Hawaiʻi.
• Hoʻomaka e holumua ai Muscle nawaliwali mea i ka lunaʻaoʻao, i kona mau wawae laila, hoopa iho la ia, a wale laila - a pau nā māhele o ke kino a me nā loko.
• Ke keiki haalele i ka hiki e hoʻoneʻe 'ia iho. Ma kahi o 12 makahiki o ka makahiki i nā keiki i mua ihola ia e kaukaʻi ma luna o ka noho huila.
• Nō hoʻi, ma laila nō kāna hana o ka naehana nenoaiu.
• A, o ka papa, he mau paewaewa ma ka cardiac nenoaiu. Ma hope, irreversible hou i loko o ka myocardium.

Ma ka make ana o skeletal Muscle

I ka make o ka Muscle'aʻaʻa - ka loa, he pono ole symptom, ina mākou e kamailio ana ia i ka pilikia e like me Duchenne ka maʻi pale. It E e kaulana ia mau keiki, i hanau ole i kekahi deviations ma ka ulu ana. I kekahi manawa'ōpio wale nō keiki i emiʻeleu a me ka lawe lima ma mua o na¯. Akā, ka hapanui o pinepine ka mea, ua pili i ka temperament a me ka ano o ke keiki. No ia mea, deviations i loa kākaʻikahi ike. More nui symptoms i ke kamaiki aku ana mamua. Na keiki ke hele ma tiptoes, me ka lilo i ka piha ana. No hoi, ka mea pinepine haule iho.

A hiki i ke keiki ke ano e olelo aku nei ia mau complains o ka nawaliwali,ʻeha i loko o na lala, luhi. Mau hunahuna mai i makemake i ka holo, Jump. ka mea, e mai e like me kekahi physical haawe ana, a me ka mea, ho'āʻo e pale aku ia. "E olelo aku" i ke kamaiki Duchenne muscular dystrophy, hiki e hele. Ua lilo e like me ka Duck. Nā keiki kāne, e like me ka mea i transshipped mai ka wawae a hiki i ka wawae.

A kūikawā anakahi mea no hoi he symptom o Gowers. Ia mea he keiki, e pii mai, mai ka papahele, 'Imi hoʻohana i kona mau lima, me he mea pii mai ia ia iho.

Ua E hoi e kaulana ia me ia i ka pilikia e like me Duchenne ka maʻi pale, i ke keiki i nā atrophied nāʻiʻo. Akā, pinepine ka mea hana i na hunahuna externally nāʻiʻo he loa holomua. Ke keiki a hiki i ka vskidku mua akaka me inā EII ni. Akā, i kēia mea wale nō he'ōnohi illusion. Ka mea o ia i loko o ka papa o ka maʻi Muscle olona, i nā wāwahi ai, a ua noho lākou wahi ma adipose'aʻaʻa. Nolaila, e like me he kilakila kona helehelena.

A wahi o skeletal deformities

Inā i ke keiki i e holumua ai muscular dystrophy, ke kiʻekiʻe, ke keiki e hoʻololi i ke kinona o ka iwi. First pathology e loli ai i ka lumbar māhele 'āina, a laila, ma laila scoliosis, oa thoracic spine curvature ia lŘlŘ. Hope hoike mai kulou, a, o ka papa, e hoʻololi i ka maʻamau kinona o ka wāwae. A pau i kēia symptoms i ka nui loa, e e ukali ma kekahi mea hōʻemi o Hawaii hope o ke keiki.

About ka naau Muscle

Muli o symptom i loko o kēia maʻi mea i poino i ka naau Muscle. No ka 'aʻe' ana o ka naau pāpana, eia ka pololei, ke koko, kulu. Ma keia hihia, no ka naau ulu i loko o ka nui. Akā, kona functionality ma ka mea ku ole, ua hoʻemi. A me ka hopena o ka hoʻokō 'ole' naau ua i nā hana. Inā ka pilikia ua noho hui me ka ÷ naehana hanu ole, aia no he pahiki kiʻekiʻe o ka make.

Aʻe 'ana o ka' imi naʻauao ha awina

It E e hoʻomaopopo i ka Duchenne muscular dystrophy, Becker i ole mau loa ana me ka hoikeia symptoms e like me ka noʻonoʻo 'retardation. Ua hiki e pili ana me ka deficiency o na waiwai me apodistrofin pono no ka lolo kuleana pili i. Imi naʻauao kīnā hiki e loa okoa - mai ka mehana noʻonoʻo retardation e idiocy. Worsening o cognitive hoʻopilikia ka poʻea pau e hiki i ka hikiʻole, e hele kindergartens, kula, i ka laau palau, a me na wahi, kahi keiki. Ke hualoaʻa Ua kaiapili loa.

Kāna hana o ka endocrine'ōnaehana

Ke Kula Kaiapuni 'endocrine kāna hana ana i loko o ole aku ma mua o 30-50% o nā mea a pau nā mea maʻi. Loa pinepine ka mea, o ka oi kaumaha, obesity. Pela keiki i kekahi haʻahaʻa ma mua o ka poe ulu na¯.

maʻi hoʻokūkū

He aha ka ka lapaʻau a me ka epidemiological ano o Duchenne muscular dystrophy? Ke'ī mai, i ka mea hiki wale mai o ka maʻi - 3.3 nā mea maʻi no 100 tausani ola kanaka. It E e kaulana i Muscle atrophy ua kiʻekiʻe o holo pono, a me ka 15-makahiki-wa elemakule i ke keiki hiki ole ke hana me ke kōkua o nā mea e ae, ua pau immobilized. I nā mea a pau, he mea no hoi he pinepine pilina o nā mea koʻohune nā mea palahēhē (pinepine pono urogenital a me ka ÷ naehana hanu nenoai), ināʻaʻole pono malama i ke keiki bedsores ana. Inā pilikia a me ka ÷ naehana hanu'ōnaehana pili me ka naau e hemahema, e Hoʻoweliweli 'o ia i ka make. Inā mākou e'ōlelo i loko o mau, mau hoʻomanawanui iki mai aneane loa e ola oi ma mua o 30 makahiki.

ʻike, o ka maʻi

He aha'āpana hana e hiki ke kōkua denoted me kaʻike, o "Duchenne muscular dystrophy"?

1. Aaiaoe ikea ai, i mea, o ka DNA Ka Ikepili.
2. Electromyography, ka wā hoʻopaʻaʻia ka loli i loko o ka puke Paipala i nāʻiʻo.
3. Muscle biopsy ka wā loaʻa ka manao paa o ke alo aku o ka dystrophin kumuʻiʻo ma Muscle.
4. A koko ho'āʻo e hooholo i ke kiʻekiʻe o ka creatine. It E e kaulana i keia'ūhū Hōʻike i ka make ana o ke Muscle olona.

lapaʻau

Hoopau ai i ke ola, mai ka maʻi mea hiki ole. Kekahi hiki wale höʻike aku symptoms, e hana i ka hoʻomanawanui ola he uuku maʻalahi a oi pono. No laila, ma hope o ka iho a me ka hoʻomanawanui ia i kaʻike,, loa pinepine ka mea, ua hoakaka ia Inc glyukokortikosterodami mea e hoʻololi i ka 'ūlōlohi i ka holomua o ka maʻi. Other kaʻina hana i hiki ke hoʻohana 'ia no kēia pilikia.

• Additional hoʻokomo ea.
• Inc lapaʻauʻia, a ua nona ma ka normalization o ka naau Muscle.
• Ka hoʻohanaʻana i nā mea e hōʻike i ka hōʻoi 'hoʻomanawanui ka hoʻoneʻe.

Ua mea i nui, e hoailona oukou i ka polokalamu Aey? Acaeoey i ano i keia mea i ka nānā 'ana ma luna o 'ōewe Inc a anei i aeea transplantation.

Other muscular maʻi

Aia nō i nā congenital Muscle mai o nā keiki. Oia maʻi nā, ma ka hou e Duchenne dystrophy:

• Becker dystrophy. Kēia maʻi ka mea i like loa ke Duchenne ka maʻi pale.
• Muscular dystrophy Dreyfus. He He lohi i holopono nō maʻi ma i ka intellect ua waiho waho.
• E holumua ai muscular dystrophy, Erb-popoʻole. Hoike mai ai ia ia iho i loko o adolescence, kokololio Holomua, kīnā o ke kino e hiki mai i kakahiaka nui.
• Glenohumeral-maka palapala Landuzi-Dejerine ka wā IIeEeAIEUIeXAIIUE Muscle nawaliwali o ka maka, mau poohiwi.

It E e kaulana ia ma lalo o kekahi o kēia mau maʻi, aole ia i hōʻike Muscle nawaliwali i loko o ke keiki. All symptoms ia lŘlŘʻano nui i loko o adolescence. Ka lōʻihi like 'ole o ke ola ana o ka hoʻomanawanui iki mai pele, aole e oi aku mamua o 30 makahiki.