Munyori: William Ramirez
Zuva Rekusika: 16 Gunyana 2021
Gadziridza Zuva: 7 Chikumi 2024
Anonim
Understanding Spinal Muscular Atrophy (SMA)
Vhidhiyo: Understanding Spinal Muscular Atrophy (SMA)

Zvemukati

Pfupiso

Chii chinonzi spinal muscular atrophy (SMA)?

Spinal muscular atrophy (SMA) iboka rezvirwere zvemajini zvinokuvadza nekuuraya mota neurons. Motokari mauroni rudzi rwechitokisi sero mumuzongoza uye chikamu chepasi chehuropi. Ivo vanodzora kufamba mumaoko ako, makumbo, kumeso, chifuva, huro, uye rurimi.

Sezvo mota mauroni anofa, mhasuru dzako dzinotanga kushomeka uye atrophy (kupera kure). Iko kukuvara kwemhasuru kunowedzera kuwedzera nekufamba kwenguva uye kunogona kukanganisa kutaura, kufamba, kumedza uye kufema.

Ndeapi marudzi emusana musana atrophy (SMA) uye ndeapi zviratidzo?

Kune mhando dzakasiyana dzeSMA. Izvo zvinoenderana nekukura kwechirwere uye kana zviratidzo zvikatanga:

  • Type l inonzi zvakare chirwere cheWerdnig-Hoffman kana checheche-kutanga SMA. Ndiyo mhando yakaoma kwazvo. Ndiwo zvakare wakajairika. Vacheche vane mhando iyi vanowanzoratidza zviratidzo zvechirwere mwedzi mitanhatu isati yakwana. Muzviitiko zvakakomba, zviratidzo zvinoratidzira kunyangwe pamberi kana mushure mekuberekwa (Mhando 0 kana 1A). Vacheche vanogona kunetseka nekumedza uye kufema uye vanogona kusatenderera zvakanyanya. Vane kupfupika kusingaperi kwemhasuru kana tendon (inonzi contractures). Kazhinji havagone kugara pasi vasina rubatsiro. Pasina kurapwa, vana vazhinji vane mhando iyi vanofa vasati vasvitsa makore maviri ekuberekwa.
  • Tora ll iri mhando ine mwero kusvika kune yakaoma yeSMA. Inowanzo tanga yaona pakati pemwedzi mitanhatu ne18 zera. Vazhinji vana vane mhando iyi vanogona kugara vasina rutsigiro asi havagone kumira kana kufamba vasina rubatsiro. Vangavewo nedambudziko rekufema. Ivo vanowanzo gara mukukura kana kuyaruka.
  • Tora lll inonziwo chirwere cheKugelberg-Welander. Ndiyo mhando yakapfava inobata vana. Zviratidzo zvechirwere zvinowanzo kuratidza mushure memakore gumi nemasere. Vana vane mhando iyi vanogona kufamba vega asi vanogona kunetseka kumhanya, kusimuka pachigaro, kana kukwira masitepisi. Vanogona zvakare kuve ne scoliosis (kupindika kwemuzongoza), zvibvumirano, uye hutachiona hwekufema.Nokurapwa, vana vazhinji vane mhando iyi vanozove neupenyu hwakajairika.
  • Rudzi IV ishoma uye inowanzo nyoro. Inowanzo kukonzera zviratidzo mushure memakore makumi maviri nerimwe ekuberekwa. Zviratidzo zvinosanganisira zvinyoro-nyoro kusvika pagumbo tsandanyama kushaya simba, kudedera, uye zvakapfava matambudziko ekufema. Zviratidzo zvishoma nezvishoma zvinowedzera kuwedzera nekufamba kwenguva. Vanhu vane mhando iyi yeSMA vane hupenyu hwakajairika.

Chii chinokonzeresa musana muscular atrophy (SMA)?

Mazhinji marudzi eSMA anokonzerwa neshanduko mune iyo SMN1 geni. Iri geni rinogadzira kugadzira puroteni iyo iyo motor neurons inoda kuve nehutano uye kushanda. Asi kana chikamu cheiyo SMN1 geni chisipo kana chisina kujairika, hapana puroteni yakaringana yemamota neurons. Izvi zvinoita kuti mota neurons dzife.


Vazhinji vanhu vane makopi maviri eiyo SM1 geni - imwe kubva kumubereki mumwe nemumwe. SMA inowanzoitika kana makopi ese aine shanduko yemagene. Kana imwe chete kopi iine shanduko, kazhinji hapana kana zviratidzo. Asi iro jeni rinogona kupfuudzwa kubva kumubereki kuenda kumwana.

Mimwe yemhando dzisingawanzoitika dzeSMA dzinogona kukonzerwa neshanduko mune mamwe majeni.

Spinal muscular atrophy (SMA) inoonekwa sei?

Wako wekuchengeta hutano anogona kushandisa maturusi mazhinji kuti aongorore SMA:

  • Kuongorora kwepanyama
  • Nhoroondo yezvokurapa, inosanganisira kubvunza nezve nhoroondo yemhuri
  • Genetic kuyedza kuongorora majini kuchinja kunokonzera SMA
  • Electromyography uye nerve conduction zvidzidzo uye mhasuru biopsy inogona kuitwa, kunyanya kana pasina geni shanduko yakawanikwa

Vabereki vane nhoroondo yemhuri yeSMA vangangoda kuita prenatal test kuti vaone kuti mwana wavo ane SMN1 gene change. An amniocentesis kana mune dzimwe nguva chorionic villi sampling (CVS) inoshandiswa kuwana muyedzo wekuyedzwa.


Mune mamwe matunhu, kuongororwa kwemajini kweSMA chikamu chevacheche kuongorora bvunzo.

Ndeapi marapirwo emusana musero atrophy (SMA)?

Iko hakuna mushonga weSMA. Kurapa kunogona kubatsira kubata zviratidzo uye kudzivirira kusagadzikana. Dzinogona kusanganisira

  • Mishonga inobatsira muviri kuti iwedzere mapuroteni anodiwa nema motor neurons
  • Gene kurapa kwevana vari pasi pemakore maviri ezera
  • Panyama, basa, uye kurapa kwekubatsira kubatsira kugadzirisa mamiriro uye kufamba kwemajoini. Aya marapirwo anogona zvakare kuvandudza kuyerera kweropa uye kunonoka mhasuru kushaya simba uye atrophy. Vamwe vanhu vangangodawo kurapwa kwekunetseka kutaura, kutsenga uye kumedza.
  • Zvigadzirwa zvekubatsira zvakadai sekutsigira kana mabhureki, orthotic, mataurirwo ekutaura, uye mawiricheya kubatsira vanhu kuti vagare vakazvimiririra
  • Kudya kwakanaka uye kudya kwakaringana kubatsira kuchengetedza huremu nesimba. Vamwe vanhu vangangoda chubhu yekudyisa kuitira kuti vawane chikafu chavanoda.
  • Kufema kunotsigira kwevanhu vane mhasuru kushaya simba mumutsipa, huro, uye chipfuva. Rutsigiro rungasanganisira zvishandiso zvekubatsira nekufema masikati uye kudzivirira kurara kufema kwemhepo usiku. Vamwe vanhu vangangoda kunge vari pamuchina wekufema.

NIH: National Institute yeNeurological Disorders uye Stroke


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