Msana Wam'mimba Atrophy

Zamkati

• Chidule
• Kodi msana wamtsempha wam'mimba (SMA) ndi chiyani?
• Kodi mitundu ya spinal muscular atrophy (SMA) ndi yotani ndipo zizindikilo zake ndi ziti?
• Nchiyani chimayambitsa msana atrophy (SMA)?
• Kodi matenda amtsempha wa msana (SMA) amapezeka bwanji?
• Kodi chithandizo chake cha msana musana atrophy (SMA) ndi chiani?

Chidule

Kodi msana wamtsempha wam'mimba (SMA) ndi chiyani?

Spinal muscular atrophy (SMA) ndi gulu la matenda amtundu omwe amawononga ndikupha ma motor neurons. Ma motor neurons ndi mtundu wa minyewa yam'mitsempha yam'mimba ndi mbali yakumunsi ya ubongo. Amawongolera kuyenda mmanja mwanu, miyendo, nkhope, chifuwa, khosi, ndi lilime.

Pamene ma neuron amafa amafa, minofu yanu imayamba kufooka komanso kuperewera (kuwonongeka). Kuwonongeka kwa minofu kumawonjezeka pakapita nthawi ndipo kumatha kukhudza kuyankhula, kuyenda, kumeza, ndi kupuma.

Kodi mitundu ya spinal muscular atrophy (SMA) ndi yotani ndipo zizindikilo zake ndi ziti?

Pali mitundu yosiyanasiyana ya SMA. Amatengera kukula kwa matendawa komanso pomwe zizindikilozo zimayamba:

• Lembani l amatchedwanso matenda a Werdnig-Hoffman kapena SMA. Ndiwo mtundu wovuta kwambiri. Ndichofala kwambiri. Ana omwe ali ndi mtundu uwu nthawi zambiri amawonetsa zizindikiro za matendawa asanakwanitse miyezi 6. Nthawi zovuta kwambiri, zizindikirazo zimawonekera asanabadwe kapena atangobadwa kumene (Mitundu 0 kapena 1A). Ana atha kukhala ndi vuto lakumeza ndikupuma ndipo sangayendeyende kwambiri. Amakhala ndi mafupikitsidwe osatha a minofu kapena tendon (yotchedwa contractures). Nthawi zambiri samatha kukhala pansi popanda thandizo. Popanda chithandizo, ana ambiri omwe ali ndi mtundu uwu amwalira asanakwanitse zaka ziwiri.
• Lembani ll ndi mtundu wochepa kwambiri wa SMA. Nthawi zambiri imazindikira pakati pa miyezi 6 mpaka 18 yakubadwa. Ana ambiri omwe ali ndi mtundu uwu amatha kukhala popanda kuthandizidwa koma sangathe kuyimirira kapena kuyenda popanda thandizo. Angakhalenso ndi vuto lopuma. Nthawi zambiri amatha kukhala achinyamata kapena achikulire.
• Lembani lll amatchedwanso matenda a Kugelberg-Welander. Ndiwo mtundu wofatsa kwambiri womwe umakhudza ana. Zizindikiro za matendawa nthawi zambiri zimawonekera atakwanitsa miyezi 18. Ana omwe ali ndi mtundu uwu amatha kuyenda okha koma atha kukhala ndi vuto lothamanga, kukwera pampando, kapena kukwera masitepe. Amathanso kukhala ndi scoliosis (kupindika kwa msana), mgwirizano, ndi matenda opuma.Ndi chithandizo, ana ambiri amtunduwu amakhala ndi moyo wathanzi.
• Mtundu wachinayi ndi osowa ndipo nthawi zambiri amakhala ofatsa. Nthawi zambiri zimayambitsa zizindikiro pambuyo pa zaka 21. Zizindikiro zake zimaphatikizapo kufooka kwa minofu ya mwendo, kutentha, ndi kupuma pang'ono. Zizindikirozi zimakula pang'onopang'ono pakapita nthawi. Anthu omwe ali ndi mtundu uwu wa SMA amakhala ndi moyo wathanzi.

Nchiyani chimayambitsa msana atrophy (SMA)?

Mitundu yambiri ya SMA imayamba chifukwa cha kusintha kwa jini la SMN1. Jini ili ndi udindo wopanga mapuloteni omwe ma motor neurons amayenera kukhala athanzi komanso kuti azigwira ntchito. Koma gawo lina la jini la SMN1 likusowa kapena losazolowereka, sipamakhala mapuloteni okwanira amitsempha yama motor. Izi zimapangitsa kuti ma neuron amagetsi afe.

Anthu ambiri ali ndi mitundu iwiri yamtundu wa SM1 - imodzi kuchokera kwa kholo lililonse. SMA nthawi zambiri imangochitika makope onsewa atasintha. Ngati kope limodzi lokha lili ndi kusintha, nthawi zambiri sipakhala zizindikiro zilizonse. Koma jini imeneyo imatha kupatsidwira kuchokera kwa kholo kupita kwa mwana.

Zina mwa mitundu yodziwika bwino ya SMA imatha chifukwa cha kusintha kwa majini ena.

Kodi matenda amtsempha wa msana (SMA) amapezeka bwanji?

Wothandizira zaumoyo wanu akhoza kugwiritsa ntchito zida zambiri kuti apeze SMA:

• Kuyezetsa thupi
• Mbiri yazachipatala, kuphatikiza kufunsa za mbiri ya banja
• Kuyesedwa kwa majini kuti muwone momwe majini amasinthira omwe amachititsa SMA
• Electromyography ndi maphunziro a mitsempha yopangira mitsempha komanso kutulutsa minofu kumatha kuchitika, makamaka ngati palibe kusintha kwa majini komwe kunapezeka

Makolo omwe ali ndi mbiri yakubanja ya SMA angafune kupita kukayezetsa asanabadwe kuti awone ngati mwana wawo ali ndi kusintha kwa majini a SMN1. Amniocentesis kapena nthawi zina chorionic villi sampling (CVS) imagwiritsidwa ntchito poyesa mayeso.

M'mayiko ena, kuyesa kubadwa kwa SMA ndi gawo la mayeso owunika kumene akhanda.

Kodi chithandizo chake cha msana musana atrophy (SMA) ndi chiani?

Palibe mankhwala a SMA. Mankhwala amathandiza kuthandizira zizindikilo ndikupewa zovuta. Zitha kuphatikizira

• Mankhwala othandiza thupi kupanga mapuloteni ambiri omwe ma neuron amafunikira
• Mankhwala a Gene kwa ana ochepera zaka ziwiri
• Thupi, ntchito, ndi kukonzanso zothandizira kuti zithandizire kukonza magwiridwe antchito am'magulu. Mankhwalawa amathanso kupititsa patsogolo kuthamanga kwa magazi ndikuchepetsa kufooka kwa minofu ndi kuperewera. Anthu ena amafunikiranso chithandizo pakavuta kuyankhula, kutafuna, ndi kumeza.
• Zida zothandizira monga zothandizira kapena zolimba, mafupa, mafotokozedwe olankhula, ndi ma wheelchair kuti athandize anthu kukhala odziyimira pawokha
• Zakudya zabwino komanso chakudya chamagulu kuti zikuthandizireni kukhala wathanzi komanso wamphamvu. Anthu ena angafunike chubu chodyetsera kuti athe kupeza zakudya zoyenera.
• Kuthandizira kupuma kwa anthu omwe ali ndi kufooka kwa minofu m'khosi, pakhosi, ndi pachifuwa. Chithandizocho chingaphatikizepo zida zothandizira kupuma masana komanso kupewa kugona tulo usiku. Anthu ena angafunikire kukhala ndi makina opumira.

NIH: National Institute of Neurological Disorder and Stroke