Duchenne akulu dystrophy. matenda otengera

Pali matenda osiyanasiyana amene amakhalapo pa ana, mosalingalira za kapena malo a ntchito. gulu ili ndi matenda otengera kwa makolo. Tsopano tikambirana za vuto monga akulu dystrophy Duchenne Kodi matendawa ndi choncho, kodi zizindikiro ake ndipo ngati mukhoza kuthana nazo.

terminology

Poyamba, muyenera kudziwa chimene ndi matenda otengera kwa makolo. Choncho zimenezi ndi matenda amene amakhalapo chifukwa cha zopindika zida cholowa cha maselo. Ndiko kuti, ndi zina zolephera wochitika pa mlingo chibadwa.

Duchenne akulu dystrophy - ichi ndi matenda otengera kwa makolo. Zikuoneka mofulumira kwambiri, chizindikiro chachikulu mu nkhani iyi - ndi mofulumira mwapang'onopang'ono minofu kufooka. Tikumbukenso: monga ena onse matenda a minofu, matenda Duchenne nawonso amachititsa chifukwa komaliza kwa minofu ya manja, kusokoneza luso galimoto ndipo, ndithudi, kulumala. Mu unyamata, ana ndi matenda izi alibenso amatha paokha ndipo simungakhoze kuchita popanda thandizo.

Kodi chimachitika pa mlingo majini

Monga tanenera kale, Duchenne akulu dystrophy - ndi matenda chibadwa. Mwachitsanzo, kusintha mu jini amene ali ndi udindo kwa kupanga mapuloteni dystrophin wapadera. Kuti zingamuthandize ulusi yachibadwa minofu. Nkofunika kudziwa kuti kusintha kwa maselo zikhonza kukhala tinatengera kapena zimachitika zokha.

M'pofunikanso kukumbukira kuti jini isanafalikire pa khromozomu X. Koma akazi ndi matenda sangakhale kudwala, monga chopatsilira chokha cha masinthidwe ku mibadwomibadwo. Ndiko kuti, ngati mayi ndidzadutsa pa kusintha kwa mwana wake, ndi 50% Mwina kudwala. Ngati mtsikana, iye anali chabe adzakhala chotengera cha mbewu, ndi mawonetseredwe matenda a matenda iye sadzatero.

Symptomatology: Gulu

Kwenikweni, matendawo mwachangu kunenetsa lokha za 5-6 zaka. Komabe, zizindikiro koyamba kumachitika mu mwana amene sizinawakhudze zaka zitatu. Tikumbukenso kuti onse matenda pathological Medco conventionally m'magulu angapo chachikulu:

1. minofu imfa.
2. Kuwonongeka kwa minofu mtima.
3. mwana chigoba chilema.
4. Various endocrine matenda.
5. Kusokoneza ntchito maganizo.

Mawonetseredwe ambiri matenda

Muzionetsetsa kuti angafune kulankhula za kusonyeza syndrome Duchenne. zizindikiro ziri motere:

• Kufooka. Amene pang'onopang'ono kukula, ikusintha.
• Ayamba mwapang'onopang'ono minofu kufooka ndi malekezero chapamwamba, ndiye anakhudza mapazi ake, ndi pamenepo pokha - Ziwalo zina zonse za thupi ndi ziwalo.
• The mwana wotaya amatha yekha. Pa zaka 12 zakubadwa ana ali kale amadalira wilutcheya.
• Komanso, pali matenda a dongosolo kupuma.
• Ndipo, ndithudi, pali monyanyira mu dongosolo mtima. Kenako, inasinthiratu mu myocardium lapansi.

Pa kugonjetsedwa kwa minofu chigoba

Kuti kuwonongedwa kwa minofu minofu - ndi chizindikiro ambiri, ngati tikulankhula za vuto monga syndrome Duchenne a. Tikumbukenso kuti ana amabadwa opanda zolakwika aliyense mu chitukuko. Ali ana aang'ono ndi layamba ndi mafoni kuposa anzawo. Koma nthawi zambiri amagwirizana ndi makhalidwe komanso khalidwe la mwanayo. Choncho zolakwika kawirikawiri kwambiri anawona. zizindikiro zambiri kwambiri zimachitika kale pa mwana kutali. Ana otere angayende tiptoes, popanda kukhala amasiya zonse. Komanso, kawirikawiri kugwa.

Pamene mnyamata kale kuti nthawi zonse anadandaula kufooka, kupweteka nthambi, kutopa. nyenyeswa izi sindimakonda kuthamanga, kudumpha. katundu zilizonse iwo samakonda, ndipo iwo amayesetsa kupewa izo. "Kunena" kuti mwana Duchenne akulu dystrophy, akhoza kuyenda. Zimakhala ngati bakha. Anyamata, ngati unali transshipped ku phazi mpaka kumapazi.

A chizindikiro chapadera ndi chizindikiro cha Gowers. Kuti ndi mwana kukwera pamwamba kuchokera pansi mwachangu amagwiritsa ntchito manja, ngati kukwera yekha.

Iwo ayenera kukumbukira kuti ndi vuto monga syndrome Duchenne a mwanayo pang'onopang'ono atrophied minofu. Koma nthawi zambiri zimachitika kuti nyenyeswa kunja minofu ngati zotsogola kwambiri. Mnyamatayo kwa vskidku koyamba ngati amawapopa. Koma ichi ndi kuphidikuka kwa diso. Chinthu ndi kuti m'kupita kwa matenda ulusi minofu pang'onopang'ono kuphwanyaphwanya, ndipo malo awo ndi wotanganidwa ndi minofu adipose. Wotereyu maonekedwe ochititsa kaso.

A pang'ono deformities chigoba

Ngati mwana ali mwapang'onopang'ono akulu dystrophy, pang'onopang'ono, mwanayo kusintha mawonekedwe a mafupa a. kudwala Choyamba amakhudza dera lumbar, ndiye pali kupindika msana, mwachitsanzo thoracic msana kupindika amapezeka. Kenako Chimaonekera kuwerama ndipo, ndithudi, kusintha mawonekedwe yachibadwa phazi. Zizindikiro zonse izi mokulirapo Adzatsagana ndi kuwonongeka kwa ntchito galimoto mwana.

Za minofu mtima

Mokakamizidwa chizindikiro mu matenda ndi kuwonongeka kwa minofu mtima. Ndi kuphwanya kayimbidwe kotani mtima, pali nthawi zonse magazi madontho. Pankhaniyi, mtima umakhala kukula. Koma magwiridwe ake m'malo mwake, utachepa. Ndipo chifukwa cha kulephera mtima pang'onopang'ono anapanga. Ngati vuto ukadali pamodzi ndi kulephera kupuma, pali Mwina mkulu wa imfa.

Kuyan'anila za ntchito aluntha

Tikumbukenso kuti Duchenne akulu dystrophy, Becker sikuti zizindikiro ziwonekera monga retardation maganizo. Mwina chikugwirizana ndi akusowa zinthu monga apodistrofin koyenera kuti ubongo. Aluntha chilema akhoza kukhala osiyana kwambiri - kuchokera wofatsa retardation maganizo idiocy. Akuchuluka cha kuwonongeka chidziwitso kumathandiza kuti ngakhale kulephera kupita ku kindergartens, masukulu, zibonga ndi malo ena kumene ana. Chifukwa ndi chikhalidwe chowasiyanitsa.

Matenda a dongosolo endocrine

Various matenda endocrine zimachitika zosaposa 30-50% odwala onse. Nthawi zambiri ndi owonjezera kulemera, kunenepa. Choncho ana nawonso poyerekeza anthu kukula anzawo.

matenda zotsatira

ndi matenda ndi AIDS makhalidwe a Duchenne akulu dystrophy chiyani? Choncho zochitika za matenda - 3.3 odwala pa wathanzi anthu 100 sauzande. Tikumbukenso kuti minofu ya manja pang'ono ndi pang'ono patsogolo, ndi zaka 15 wazaka mnyamata simungakhoze kuchita popanda thandizo la ena, pokhala kwathunthu kuyenda. Onse, palinso kugwirizana pafupipafupi matenda osiyanasiyana bakiteriya (zambiri monga urogenital ndi kupuma machitidwe), ngati si bwino kusamalira mwana bedsores zimachitika. Ngati mavuto ndi dongosolo kupuma chikugwirizana ndi kulephera mtima, linaopseza imfa. Ngati ife kulankhula ambiri, odwalawo pafupifupi konse kukhala zaka zoposa 30.

matenda a matenda

Kodi mankhwala angathandize amaimira ndi matenda a "Duchenne akulu dystrophy"?

1. Majini kuyezetsa, ndiko kuti, kusanthula DNA.
2. Electromyography, pamene anatsimikizira ndi kusintha kwa minofu chachikulu.
3. Minofu biopsy pamene pali mtima wa kukhalapo kwa mapuloteni dystrophin mu minofu.
4. A magazi kudziwa mlingo wa creatine. Tikumbukenso kuti enzyme amasonyeza imfa ya ulusi minofu.

chithandizo

Kwathunthu achire matenda ndi zosatheka. Limodzi likhoza matenda kuti wodwalayo moyo zosavuta ndi yabwino kwambiri. Choncho, pambuyo kuika mtima matenda amenewa, nthawi zambiri izo Kwalamulidwa mankhwala glyukokortikosterodami kuti tinapangidwa yobwerera patsogolo matenda. Njira zina zimene tingagwiritse ntchito pa vuto ili:

• Zina mpweya wabwino.
• Therapy mankhwala, zomwe cholinga chake ndicho pa normalization wa minofu mtima.
• Kugwiritsa ntchito zipangizo zosiyanasiyana kuti tizikonda sayenda mtima.

M'pofunikanso kukumbukira kuti zikuchitika posachedwapa njira lero kuti zochokera mankhwala jini ndi maselo kupatsidwa zina.

matenda ena akulu

Palinso ena kobadwa nako minofu matenda a ana. matenda monga, kuwonjezera Duchenne dystrophy:

• Becker dystrophy. matenda ndi zofanana kwambiri ndi matenda Duchenne a.
• Akulu dystrophy Dreyfus. Ndi matenda pang'onopang'ono patsogolo imene nzeru awasungira.
• Progressive akulu dystrophy, Erb-kuvunda. Kumaonekera unyamata, kupitirira mofulumira, kulumala amabwera msanga.
• Glenohumeral-nkhope mawonekedwe Landuzi-Dejerine pamene isanafalikire minofu kufooka kwa nkhope, mapewa.

Tikumbukenso kuti pansi pa matenda awa sangosonyeza minofu Kufooka mwa ana akhanda. Zizindikiro zonse kumachitika makamaka unyamata. Kutalika kwa moyo wa odwala zambiri si upambana zaka 30.