Spinal Muscular Atrophy - SMA

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Nhoroondo yeSpinal Muscular Atrophy - SMA

Mutsara muscular atrophy (SMA) isingazivikanwi zvirwere zvegenetic zvine chokuita nekudzora mitsetse branching kubva mumutsipa wepelinha ine mishonga yokuzvidira. SMA inonyanya kunetsa vana.

Mwana ane SMA achaona kuora mwoyo kwemabasa anokosha zvakadai sokufema , kuyamwa nekugwinya. Mimwe mimwe mitemo inogona kukura kunze kwekusava nemafungiro akadaro. Semuenzaniso, zvisingawanzoitiki zvepasera dzemumapapiro zvinogona kukura nekuda kwekushaya simba mushure mitezo, zvinowedzera kukanganisa kufema nekugadzirisa mapapu.

Kusati kwauya kwekudyisa tubhu, kukanganisa mukumedza kazhinji kwakakonzera rufu munyaya dzeSMA type 1 (rudzi rwakanyanya kwazvo). Ikozvino kune mazano akawanda ekubatsira kubatsira vana ne SMA vari vapenyu (uye vakagadzikana, zvichienderana nemakore akapfuura). Zvisinei, njodzi dzichiripo. Imwe inogumburwa. Choking inokwanisika nokuti mwana ane SMA ane utera husinganzwisisi uye kucheka misumbu. Imwe njodzi inoshuva kana kufemerwa kwezvokudya. Kutapisa kunogona kudzivirira nzira yepamhepo uye kuva chetachiona.

SMA inozviratidza munzira dzakawanda, iyo ichasiyana zvakanyanya maererano nerudzi. Mune mhando dzose dzeSMA, unogona kutarisira muscle kushaya simba, kuparara, uye atrophy, pamwe nematambudziko ekubatanidza misi. Chikonzero cheizvi chiri muhutano hwechirwere chacho pachako: SMA inobata kutya kwekutya kwemisungo yokuzvidira.

Hakuchina mushonga weSMA. Chirevo chinonyanya kuvimbiswa chinouya pamusoro pechiratidzo chekutanga. Kufambira mberi mumishonga kunogona kubatsira kugadzirisa zvinetso zvinosangana neSMA.

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The Genetics of Spinal Muscular Atrophy - SMA

SMA inonzi rection genetic disease. Kuti uchinzwisise ichi chidzidzo chechidiki chebhaibheri chiri mukugadzirira:

Iko kune zvikamu zveese rimwe mumuviri wemunhu unogamuchira mirayiridzo kubva kumagenjini. Zvikamu zvesekeri iyo inowana mirayiridzo ndeyo, nechisikigo, protien. Kana mirayiridzo iine kukanganisa, izvi zvinonzi kubviswa. MuSMA, mirayiridzo inopiwa kumitsipa iyo inodzora misumbu ine kubviswa kunokonzera kushayikwa kweprotien. Iyo jena rinotarisira kurairirwa kumakumbo emotokari inonzi SMN 1, kana kuti kupona motokari neuron.

Munhu mumwe nomumwe ane mapairi maviri emajini ega yega mirayiridzo inopiwa: imwe geni inotora nhaka kubva kuna amai uye imwe kubva kuna baba. Zvimwe zvirwere zvicharatidzika kana imwe chete yemagenha akaberekwa ine chikanganiso chekudzidzisa. Zvimwe zvirwere, zvakadai saSMA, zvinoda zvose maamai uye baba vane mazita ekuberekwa kuti vave nekanganiso vasati vazozviratidza. SNM 1 (kupona motokari neuron) gene, iro rinotarisirwa SMA, ndeimwe yemhando dzemhando dzejeni. Izvi zvinoreva kuti kuti mwana ave neSMA, vose vabereki vanofanira kunge vakapa SMN 1 nemirairo isina kururama (kubviswa kunotaurwa pamusoro). Kunyange zvakadaro, mukana ndewe 1 pa4 kubva pakuzvitakura kuti mwana achava neSMA. Mumwe muvanhu vakuru makumi mana nevatatu vanotakura geni rinokonzera SMA.

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Mhando dzeSpinal Muscular Atrophy

Mutsipa musimba inrophy inobata 1 pavana 6 000 vacheche. Icho chinotungamirira chikonzero chekufa kwevana vari pasi pezera remakore maviri. SMA haina kusarura kune avo inobata. Kune marudzi akawanda eSMA. Zvimwe zvakabatana naS SMN 1 (kupona motori neuron gene) uye zvinokurukurwa munyaya ino. Kunewo dzimwe mhando dzeSMA, zvakadai seSpinal Bulbar Muscular Atrophy (SBMA). SMA inobatanidza 1-SMA yakarongedzwa nekutsungirira uye makore ekutanga kwezviratidzo; chiyero chekuoma, chiyero cheprotheni kukasikirwa mumotokari yeururoni, uye (pakutanga) makore ekutanga ose anowanzoratidza kuratirana kune mumwe.

Kuvandudza manzwiro uye pfungwa dzakakwana muSMA.

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Mhando dzeSpinal Muscular Atrophy - SMA Type 1

Ita 1 SMA ndiyo yakanyanya kuoma, inosangana nevana vasati vava nemakore maviri. Kuongororwa kwechirongwa 1 SMA inowanzoitwa mumwedzi 6 yekutanga yeupenyu. Vacheche vane rwiyo 1 SMA havakwanise kuwana chimiro chekugadzirwa kwechigadzirwa zvakadai sekuyamwisa kunomedza, kuputika, kugara, uye kutamba. Vana vane SMA rudzi rwekutanga 1 vanofa kufa vasati vava nemakore maviri, kazhinji nekuda kwekunetseka kwekufema kunobatanidza.

Vacheche vane SMA rudzi rwekutanga 1 vanoita kunge vakaremara, vasingatauri uye kunyange floppy. Huru dzavo dzinofamba-famba mufashoni-kufanana nemafungiro uye havagoni kubata musoro wavo pavanenge vakagadzika panzvimbo yakagara. Vanogona kunge vane maziso akangwara akadai sa scoliosis, uye achava nemasimba asina simba, zvikurukuru mumatumbu anowanikwa ari pedyo nepamusoro pemusana. 1, 2

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Mhando dzeSpinal Muscular Atrophy - SMA Type 2

SMA-type 2, iyo inonziwo Intermediate SMA, ndiyo inowanzosiyana yeSMA. Iyo inobvumira hupenyu hurefu hurefu kupfuura SMA Type 1, asi hupenyu hupfupi-kupfuura-hwemazuva ose. Lifespan inogona kusvika kusvika kuma20 kana 30s. Kuvharidzirwa kwekuputira ndiyo inonyanya kukonzera rufu mururimi rwechipiri 2. SMA rudzi rwekutanga runotanga pakati pemwedzi 6 ne18 kana mushure mekunge mwana aratidzira iye kana kuti anogona kugara asingabatsiri (mushure mekunge agadzwa pachigaro).

Zviratidzo zvechimiro chechipiri zvinosanganisira kuora, kupera kwemotokari, kuwedzera mhuru dzenzombe uye kudedera muminwe. Uturu hwakakoshesa huri pedo kusvika kumucheto hunosangana neutera pakutanga; makumbo achava asina simba pamberi pemaoko. Vana vane rudzi rwechipiri SMA havazombokwanisi kufamba pasina rubatsiro. Mashoko akanaka ndeokuti mwana ane SMA angangokwanisa kuita mabasa nemaoko nemaoko, zvakadai se keyboarding, kudya, etc. Zvakaonekwa kuti vana vane SMA rudzi rwechipiri vakangwara zvikuru. Kurapa kwepanyama, zviyero zvinotsigira uye simba remagumbo evanhu vanogona kufamba nenzira yakareba pakupa upenyu hune chinangwa hwevana vane SMA rudzi rwechipiri.

Tarisira kunze 2 Matambudziko makuru neSMA Type 2

• Nhengo dzemuviri dzinogona kukonzera zvirwere
• Scoliosis uye / kana kyphosis inogona kukura nekuda kwekushaya simba kwepamuviri.

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Mhando dzeSpinal Muscular Atrophy - SMA Aina 3 ne4

SMA Type 3, inozivikanwawo seMild SMA, inotanga mushure memwedzi 18, kana mushure mokunge mwana atora matanho mashanu achifamba ivo pachavo. Vanhu vane SMA dzakanaka vanogara kwenguva yakareba uye vanogona kuva nemabasa ekugadzirwa kwepamhizha akashongedzwa nezvakaitwa. Vanhu vane SMA-type 3 vanowanzovimba nemichina yekugadzirisa, uye muupenyu hwavo hwose vanofanira kuramba vachicherechedza kwavari pavari maererano nepamusoro pemapfupa avo ekuputika uye mumigumisiro yepamuviri . Vanowanzorega kurega kufamba mune imwe nguva muupenyu hwavo. Pavanomira kufamba vachisiyana pakati pemakore ekuyaruka nemakore makumi mana.

Kunyange zvazvo vana vane chirwere chemufananidzo 3 SMA vanogona kufamba uye kufamba, kune hutonda hwakashata uye kuparara kwemasimba anokwana, kureva avo avo vari pedyo nepamusoro.

Iko kune rudzi rwechina rweSMA - SMA-rukadza vanhu vakuru. Rudzi rwechina rinowanzoonekwa kana munhu ari maari kana kuti 30s. Sezvaungave wakambofungidzira, SMA rudzi rwechina ndiyo iyo inonyanya kukurudzira pakuenderera kwekutsungirira kwechirwere ichi. Zviratidzo zvechimiro chechina zvinofanana zvikuru neyechirongwa chechitatu.

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Kuongorora uye Kuongororwa kweMpinal Muscular Atrophy - SMA

Nhanho yekutanga yekuwana kuongororwa ndeyevabereki kana vanochengeta kuchengeta zviratidzo zveSMA mumwana wavo. Zviratidzo izvi zvakatsanangurwa pamapeji apfuura enyaya ino. Chiremba anofanira kutora nhoroondo yakajeka yezvokurapa yemwana, kusanganisira nhoroondo yemhuri uye kuongorora mumuviri.

Kune marudzi akawanda eongororo anoshandiswa kuongorora SMA:

• Kuyera ropa
• Tsvina tsvina
• Genetic tests
• EMG

Nyaya dzakawanda dzinogadzirwa pamusoro pekuedzwa kweSMA kuvana, uyewo kuedza vabereki nekuda kwechitarisiko. Muna 1997, kuongororwa kweDNA, kunonzi kuwanda kwePCR kuongororwa kweGNA SMN1, yakabuda pamusika kubatsira vabereki kuti vaone kana vakatakura mutanhi wechitenderera unokonzera SMA. Muedzo unoitwa nekutora muenzaniso weropa. Kuedza huwandu hwevanhu hwakaoma zvikuru, saka hunochengeterwa avo vane vanhu vane SMA mumhuri yavo.

Kuedza kunogona kuitika pakarepo neamniocenteses kana chorionic villus samples.

Zvigadziriswa chikamu chechikamu chino chine ruzivo pamusoro pekuenda kupi kunoedza

.

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Kurapa kweSpinal Muscular Atrophy - SMA

Kurapa kweSMA kunongororwa kutsigira hupenyu, kukurudzira kuzvimirira uye / kana kuvandudza hupenyu hwehutano hwehutano. Mienzaniso yekutarisira uye kurapwa zvinosanganisira:

• physically therapy
• kushandiswa kwezvigadzirwa zvekusimbisa zvakadai semagadzirirwo, mhepo yekufema uye kudyara mabhuku. Kune zvakawanda zvigadzirwa zvekushandisa zveSMA. Zvakanakisisa kukurukurirana izvi neboka rako rekurapa.
• kuvhiyiwa kwekupererwa kwemupfupa

Vanachiremba vanokurudzira kuti mhuri dzishande pamwe neboka rehutano mune nzira yehutano. Murwere weSMA anofanira kuongororwa muchipatara kakawanda panguva yake kana hupenyu hwake. Mazano ekuberekorora mazano emhuri ndeaakakosha.

Chiito hachifaniri kudziviswa, asi chinoshandiswa nenzira yekudzivirira kuora, kubvumirana, nekuoma uye nekuchengetedza kufamba kwekufamba uye kushanduka; saka, haifaniri kuitwa kusvikira pakupera simba. Chikafu chakanaka chichaita kuti murwere ashandise mishonga yavo.

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Zvinyorwa zveSpinal Muscular Atrophy - SMA

Genetic Testing for SMA

• Molecular Diagnostic Laboratory kuOhio State University
• Molecular Pathology Laboratory paYunivhesiti yePennsylvania Health System

Nokuda kweZvinyorwa Zvekare - Websites & Articles

• Mhuri dzeSpinal Muscular Atrophy
• Muscular Dystrophy Association
• Kuratidzwa kweBreating Process
• ADAM Health Care Center paSpinal Muscular Atrophy

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Spinal Muscular Atrophy - SMA - Mavara

1 Chiremba Gwaro Rekunyora. Kuedza Kutakura Nhasi Kuwanikwa Kwepinal Muscular Atrophy. 6.2.97 Yakadzorerwa musi waAugust 1, 2006.
2 Childrens Hospital yePhililadelphia. Utano Hwemwana Wako - Spinal Muscular Atrophy. Yakadzorerwa musi waAugust 1, 2006.
3 Tsao, Brian, MD, Stojic, Andrey, MD, PhD. eMedicine.com Spinal Muscular Atrophy 6.8.06. Yakadzorerwa musi waAugust 1, 2006.
3 Muscular Dystrophy Association. Chokwadi Pamusoro peSpinal Muscular Atrophy Yakadzorerwa August 1, 2006.
3 Mhuri dzepineti Muscular Atrophy Matambudziko Emishonga Akadzorerwazve musi waAugust 1, 2006.
4 NINDS Spinal Muscular Atrophy Page 6.26.06. Yakadzorerwa musi waAugust 1, 2006.