I-Spinal Muscular Atrophy - i-SMA

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Sibutsetelo se-Spinal Muscular Atrophy - SMA

Umzimba we-spinal muscular atrophy (SMA) isifo esiyingqayizivele sesifo sofuzo esithinta izimbangela zokulawula izinzwa ezisuka emgodini womgogodla unemisipha yokuzithandela. I-SMA ngokuyinhloko ihlupheka izingane.

Ingane ene-SMA izobhekana nokukhubazeka kwemisebenzi ebalulekile njengokuphefumula, ukuswa nokugwinya. Izimo ezingeziwe zingase zivele kulokhu kuphazamiseka. Isibonelo, imigwaqo engavamile yomgogodla ingahlakulela ngenxa yezintuthwane zangemuva ezibuthakathaka, okuqhubeka nokucindezela inqubo yokuphefumula ngokucindezela amaphaphu.

Ngaphambi kokufika kwamatayipi okudla, ukuphazanyiswa ekugwinya kwavame kubangela ukufa ezimweni ze-SMA uhlobo 1 (uhlobo olunzima kakhulu). Kukhona amadivayisi amaningi wokusiza ukusiza ukugcina izingane nge-SMA ziphila (futhi zikhululekile, okungenani zihlobene neminyaka edlule). Nokho, izingozi zikhona. Omunye ukhahlela. Ukukhethwa kungenzeka ngoba ingane ene-SMA inamandla okugwinya nokuhlambalaza. Enye ingozi isifiso noma ukuphazamiseka kokudla. Ukuphefumula kungavimbela umoya womoya kanye nokuba ngumthombo wokutheleleka.

I-SMA ibonisa ngezindlela eziningi, ezohluka ngokukodwa ngohlobo. Kuzo zonke izinhlobo ze-SMA, ungalindela ubuhlungu obuthakathaka, ukuchitheka, kanye ne-atrophy, kanye nezinkinga zokuxhumanisa imisipha. Isizathu salokhu sisezingeni lesifo ngokwayo: I-SMA ithinta ukulawulwa kwezinzwa zemisipha yokuzithandela.

Ayikho ikhambi le-SMA. Isibikezelo esithembisayo kakhulu senziwa ngokutholakala kokuqala. Ukuthuthuka kwezokwelapha kungasiza ekuphatheni izinkinga ezihlobene ne-SMA.

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I-Genetics of Spinal Muscular Atrophy - i-SMA

I-SMA yisifo esithathelwanayo sofuzo. Ukuqonda lokhu isifundo se-biology esifushane senzelwe:

Kukhona izingxenye zeseli emzimbeni womuntu othola imiyalo evela kumagciwane. Izingxenye zeseli ezitholayo imiyalo yilezi, ngokwemvelo, i-protien. Uma imiyalo iqukethe iphutha, lokhu kubizwa ngokuthi kususwa. E-SMA, imiyalo enikezwe izinzwa ezilawula imisipha iqukethe ukususwa okubangela ukuntuleka kwe-protien. Isakhi esiholela ekufundisweni kwe-motor neurons kuthiwa i-SMN 1, noma i-motor neuron yokuphila.

Umuntu ngamunye unezinhlangothi ezimbili zezakhi zofuzo emfundweni ngayinye enikeziwe: isakhi sofuzo esisodwa sizuzwa njengefa kanye nonina kusuka kubaba. Ezinye izifo zizovela uma enye yezakhi zofuzo ezizuze njengefa iqukethe iphutha lokufundisa. Ezinye izifo, ezifana ne-SMA, zidinga izakhi zofuzo zomama kanye nezobaba ezizozuzwa njengefa ngaphambi kokuba lesi sifo sizitholele. I-SNM 1 (i-survival motor neuron) isakhi segciwane, esiphethwe yi-SMA, ingenye yalezo zinhlobo zegciwane. Lokhu kusho ukuthi ukuze ingane ibe ne-SMA, bobabili abazali kumele banikele nge-SMN 1 ngemilayezo engafanele (ukususwa okukhulunywe ngenhla). Ngisho noma kunjalo, ithuba lingu-1 kwabangu-4 ngokukhulelwa ukuthi ingane izoba ne-SMA. Omunye wabantu abadala abangu-40 yizithwali zofuzo oludala i-SMA.

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Izinhlobo ze-Spinal Muscular Atrophy

I-atrophy ye-spinal muscular ithinta 1 kwabangu-6,000 abasha. Yiyona imbangela eholela ekufeni kwezingane ezingaphansi kweminyaka eyi-2. I-SMA ayiyona inbandlululo ngokuthi ngubani othinta yona. Kunezinhlobo eziningana ze-SMA. Ezinye zihlobene no-SMN 1 (i-survival motor neuron gene) futhi kuxoxwa ngakho kulesi sihloko. Kukhona nezinye izinhlobo ze-SMA, njenge-Spinal Bulbar Muscular Atrophy (SBMA). I-SMA ehlobene ne-SMN e-1 ihlukaniswe ngobukhulu nangesikhathi sokuqala kwezimpawu; izinga lokuqinela, inani lamaprotheni ekuntulekeni kwamantombazane, futhi (ekuqaleni) iminyaka yokuqala kuqala ukukhombisa ukulungiswa komunye nomunye.

Ukuthuthukiswa kwezinzwa futhi ingqondo ijwayelekile kuSMA.

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Izinhlobo ze-Spinal Muscular Atrophy - I-SMA Type 1

Thayipha i-SMA ye-1 yinkimbinkimbi kakhulu, ethinta izingane ezingaphansi kweminyaka engu-2. Ukuxilongwa ngohlobo lwe-SMA luvame ukwenza ezinyangeni eziyisithupha zokuqala. Izingane ezine-type 1 i-SMA azikwazanga ukuthola okufeziwe okuthuthukiswa kwezimoto ezifana nokuncelisa ukugwinya, ukuguqa, ukuhlala, nokukhahlela. Izingane ezine-SMA hlobo 1 zivame ukufa ngaphambi kweminyaka emibili, ngokuvamile ngenxa yezinkinga zokuphefumula ezihambisanayo.

Izingane ezine-SMA hlobo 1 zivame ukuba zikhukhumezekile, zingapheli ngisho ne-floppy. Ama-tounges abo ahamba ngendlela efana ne-worm futhi abakwazi ukubeka ikhanda phezulu lapho bebekwe endaweni ehlezi. Kungenzeka ukuthi banokukhubazeka okuphawulekayo njenge-scoliosis, futhi bayoba nobuthakathaka obuthakathaka, ikakhulukazi emisipha elandelanayo eseduze nomgogodla. 1, 2

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Izinhlobo ze-Spinal Muscular Atrophy - I-SMA Type 2

I-SMA hlobo 2, ebizwa nangokuthi i-Intermediate SMA, yilona uhlobo oluvame kakhulu lwe-SMA. Ivumela isikhathi eside sokuphila kune-SMA Type 1, kodwa yonke isikhathi esifushane sokuphila. Ukuphila kungase kufike kuze kube ngu-20 noma 30. Ukutheleleka kokuphefumula kuyimbangela evamile yokufa ngohlobo 2. Uhlobo lwe-SMA luqala noma luphakathi kwezinyanga ezingu-6 no-18 noma ngemuva kokuba ingane ibonise ukuthi ingahlala ngaphandle kokusekelwa (ngemuva kokubekwa endaweni ehlezi).

Izimpawu zohlobo lwe-2 zihlanganisa ukukhubazeka, ukubambezeleka kwezimoto, imisipha yamathambo ekhulisiwe nokuthuthumela eminwe. Imisipha ehamba phambili elala eduze nomgogodla ithinteka ebuthakathakeni kuqala; imilenze iyoba buthakathaka ngaphambi kwezandla. Izingane ezinehlobo 2 SMA ngeke zikwazi ukuhamba ngaphandle kosizo. Izindaba ezinhle ukuthi ingane ene-SMA cishe izokwazi ukwenza imisebenzi ngezandla nangezandla zabo, njenge-keyboarding, yokudla, njll. Kuye kwaphawula ukuthi izingane ezine-SMA hlobo 2 zihlakaniphile kakhulu. Ukwelashwa ngokomzimba, amadivaysi okusiza kanye nezihlalo zabakhubazekile angakwazi ukuhamba phambili ekubambeni impilo enenjongo yezingane ezine-SMA type 2.

Qaphela izinkinga ezimbili eziyinhloko nge-SMA Type 2

• Imisipha yokuzibulala ingabangela izifo
• Ukwehla kwesibindi kanye / noma ukukhenyuka kungathuthuka ngenxa yemisipha ebuthakathaka.

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Izinhlobo ze-Spinal Muscular Atrophy - Izinhlobo ze-SMA 3 no-4

I-SMA Type 3, eyaziwa nangokuthi Sild SMA, iqala ngemva kwezinyanga ezingu-18, noma ngemuva kokuba ingane ithathe izinyathelo ezingu-5 ezihambayo ngokwazo. Abantu abane-SMA emnene bahlala isikhathi eside futhi bangaba nemisebenzi yobuchwepheshe ehlotshiswe ngezinto ezifeziwe. Abantu abane-SMA type 3 bavame ukuxhomeka kumadivayisi okusiza, futhi kuzo zonke izimpilo zabo kudingeka baqaphele ukuthi bahlalaphi lapho bebhekene nezingozi zabo zokuphefumula kanye nomgogodla . Bavame ukuyeka ukuhamba isikhathi esithile empilweni yabo. Uma beka ukuhamba kuhlukahluka phakathi kwentsha no-40s.

Ngenkathi izingane ezine-type 3 i-SMA ingahamba futhi zihambe, kunobuthakathaka bemisipha nokubhujiswa kwemisipha ehamba phambili, okungukuthi labo abaseduze nomgogodla.

Kukhona uhlobo lwe-4 lwe-SMA - i-SMA yokuqala kwabantu abadala. Uhlobo lwe-4 luvame ukukhombisa lapho umuntu ekhona noma ku-30s. Njengoba kungenzeka ukuthi ucabange, uhlobo lwe-SMA luhlobo olutheni kunazo zonke ekuhambeni kokuqina kwalesi sifo. Izimpawu zohlobo lwe-4 zifana kakhulu nezohlobo lwe-3.

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Ukuhlola nokuhlola for Spinal Muscular Atrophy - SMA

Isinyathelo sokuqala ekutholeni ukuxilongwa kungenxa yabazali noma abanakekeli ukuqaphela izimpawu ze-SMA kumntanakho. Lezi zimpawu zachazwa emakhasini angaphambilini ale ngxenye. Udokotela kufanele athathe umlando ophelele wezokwelapha wengane, kuhlanganise nomlando womndeni nokuhlolwa ngokomzimba.

Kunezinhlobo eziningana zokuhlolwa okusetshenziselwa ukuxilonga i-SMA:

• Ukuhlolwa kwegazi
• I-muscle biopsy
• Izivivinyo ze-Genetic
• I-EMG

Kunezinkinga eziningi ezikhiqizwa mayelana nokuhlolwa kwe-SMA ezinganeni, kanye nokuhlola abazali ngesimo senethiwekhi. Ngo-1997, i-DNA test, ebizwa ngokuthi i-PCR yokuhlolwa kwegciwane le-SMN1, yaphuma emakethe ukusiza abazali ukuba banqume ukuthi bayathwala isakhi se-mutant esibangela i-SMA. Ukuhlolwa kwenziwa ngokuthatha isampula yegazi. Ukuhlola umphakathi jikelele kunzima kakhulu, ngakho kubhekwe labo abaye baba nabantu abane-SMA emndenini wabo.

Ukuhlolwa kungenwe ngama-amniocenteses noma amasampuli e-chorionic villus.

Isigaba sezinsiza zalesi sihloko sinolwazi lapho ungahamba khona ukuhlolwa

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Ukwelashwa kwe-Spinal Muscular Atrophy - SMA

Ukwelashwa kwe-SMA kugxile ekusekeleni impilo, ukukhuthaza ukuzimela kanye / noma ukuthuthukisa impilo yegulane. Izibonelo zokunakekelwa nokwelashwa zihlanganisa:

• ukwelashwa ngokomzimba
• ukusetshenziswa kwezixhobo zokusiza ezifana nezihlalo zabakhubazekile, imishini yokuphefumula kanye namathole wokudla. Kunezinsiza eziningi zokusiza ze-SMA. Kungcono ukuxoxa ngalokhu neqembu lakho lezokwelapha.
• ukuhlinzwa kokukhubazeka komgogodla

Odokotela batusa ukuthi imindeni isebenze nethimba lezokunakekelwa kwezempilo ngendlela ehlukene yezifundo. Isiguli se-SMA kufanele sihlolwe ngokomzimba kaningi ngesikhathi sakhe noma esikhathini sakhe sokuphila. Ukwelulekwa nge-genetic kumalungu omndeni kubaluleke kakhulu.

Umsebenzi akufanele ugwenywe, kodwa kunalokho usetshenziswe ngendlela yokuvimbela ukubola, ukuvumelanisa, nokuqina nokugcina uhambo lokuhamba nokuguquguquka; Ngakho-ke, akufanele kwenziwe kuze kube sekugcineni kokukhathala. Ukudla okunempilo kuzokwenza isiguli sisebenzise imisipha yawo.

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Izinsiza ze-Spinal Muscular Atrophy - SMA

Ukuhlolwa kwe-Genetic ye-SMA

• I-Laboratory Diagnostic Laboratory e-Ohio State University
• I-Laboratory Molecular Pathology Laboratory eNyuvesi yasePennsylvania yezempilo ePennsylvania

Ukuze uthole ulwazi oluthe xaxa - Amawebhusayithi Nezihloko

• Imindeni ye-Spinal Muscular Atrophy
• I-Muscular Dystrophy Association
• Sibutsetelo senqubo yokuphuza
• I-ADAM Health Care Centre ku-Spinal Muscular Atrophy

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I-spinal muscular atrophy - i-SMA - i-Bibliography

Ukushicilelwa kokuPhatha kweDokotela. Ukuhlolwa Kwezinto Zokuhlinzeka Manje Kuyatholakala Ku-Spinal Muscular Atrophy. 6.2.97 Ukubuyiselwa ku-Agasti 1, 2006.
Isibhedlela sezingane ezimbili saseFiladelphia. Impilo Yengane Yakho - I-Spinal Muscular Atrophy. Ibuyiselwe ngo-Agasti 1, 2006.
3 Tsao, Brian, MD, Stojic, Andrey, MD, PhD. eMedicine.com I-Spinal Muscular Atrophy 6.8.06. Ibuyiselwe ngo-Agasti 1, 2006.
3 I-Muscular Dystrophy Association. Amaqiniso Ngokwe-Spinal Muscular Atrophy Ebuyisiwe ngomhla ka-Agasti 1, 2006.
Imindeni yezinkinga zezokwelapha ze-Atrophy ze-Spinal Muscular Retrieved 1 Agasti 2006.
4 NINDS Umswakama We-Atrophy Emzimbeni Page 6.26.06. Ibuyiselwe ngo-Agasti 1, 2006.